Gene Dossiers

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Gene dossier Disorders Genes
Deafness, X-linked 2

London North East RGC GOSH - 2012

  • Deafness, X-Linked 2
    • Deafness, Conductive, With Stapes Fixation
    • Deafness, Mixed, With Perilymphatic Gusher
    • Nance Deafness
    • Perilymphatic Gusher-Deafness Syndrome
    • Sensorineural Deafness, Profound, With Or Without A Conductive Component, Associated With A Unique Developmental Abnormality Of The Ear
  • POU class 3 homeobox 4
    • POU domain class 3, transcription factor 4
Dementia Disorders 16 Gene Panel

London Institute of Neurology - 2013

  • Alzheimer Disease 3
    • Alzheimer Disease 3, Early-Onset
    • Alzheimer Disease, Familial, 3
  • Alzheimer Disease 4
    • Alzheimer Disease, Familial, 4
  • Amyotrophic Lateral Sclerosis 10, With Or Without Frontotemporal Dementia
    • Frontotemporal Dementia With Tdp43 Inclusions, Tardbp-Related, Included
    • Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Tardbp-Related, Included
    • Ftld-Tdp, Tardbp-Related, Included
  • Amyotrophic Lateral Sclerosis 14, With Or Without Frontotemporal Dementia
  • Amyotrophic Lateral Sclerosis 6, With Or Without Frontotemporal Dementia
  • Cerebral Amyloid Angiopathy, ITM2B-Related, 1
    • Cerebral Amyloid Angiopathy, British Type
    • Dementia, Familial British
    • Presenile Dementia With Spastic Ataxia
  • Cerebral Amyloid Angiopathy, ITM2B-Related, 2
    • Cerebellar Ataxia, Cataract, Deafness, And Dementia Or Psychosis
    • Dementia, Familial Danish
    • Familial Danish Dementia
    • Heredopathia Ophthalmootoencephalica
  • Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy
    • Casil
    • Dementia, Hereditary Multi-Infarct Type
  • Cerebral Arteriopathy, Autosomal Recessive, With Subcortical Infarcts And Leukoencephalopathy
    • Cerebrovascular Disease With Thin Skin, Alopecia, And Disc Disease
    • MAEDA Syndrome
    • Subcortical Vascular Encephalopathy, Progressive
  • Creutzfeldt-Jakob Disease
    • Creutzfeldt-Jakob Disease, Familial
  • Fatal Familial Insomnia
    • Insomnia, Fatal Familial
  • Frontotemporal Dementia
    • Dementia, Frontotemporal, With Parkinsonism
    • Disinhibition-Dementia-Parkinsonism-Amyotrophy Complex
    • Frontotemporal Dementia With Parkinsonism
    • Frontotemporal Dementia-Amyotrophic Lateral Sclerosis
    • Frontotemporal Lobar Degeneration
    • Frontotemporal Lobe Dementia
    • Ftdp17
    • Multiple System Tauopathy With Presenile Dementia
    • Pick Complex, Included
    • Wilhelmsen-Lynch Disease
  • Frontotemporal Dementia, Chromosome 3-Linked
    • Dementia, Familial Nonspecific
  • Frontotemporal Lobar Degeneration With TDP43 Inclusions, GRN-Related
    • Dementia, Hereditary Dysphasic Disinhibition
    • Frontotemporal Dementia With TDP43 Inclusions, Grn-Related
    • Frontotemporal Dementia, Ubiquitin-Positive
    • Frontotemporal Lobar Degeneration With Ubiquitin-Positive Inclusions
    • FTLD-TDP, GRN-Related
  • Huntington Disease-Like 1
    • Huntington-Like Neurodegenerative Disorder 1
    • Huntington-Like Neurodegenerative Disorder, Autosomal Dominant
    • Prion Disease, Early-Onset, With Prominent Psychiatric Features
  • Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1
    • Lower Motor Neuron Degeneration With Paget-Like Bone Disease
    • Multisystem Proteinopathy 1
    • Muscular Dystrophy, Limb-Girdle, With Paget Disease Of Bone
    • Pagetoid Amyotrophic Lateral Sclerosis
    • Pagetoid Neuroskeletal Syndrome
  • Kuru, Susceptibility To
  • Leukoencephalopathy, Diffuse Hereditary, With Spheroids
    • Dementia, Familial, Neumann Type
    • Gliosis, Familial Progressive Subcortical
    • Leukoencephalopathy With Neuroaxonal Spheroids, Autosomal Dominant
    • Subcortical Gliosis Of Neumann
  • Parkinson-Dementia Syndrome
    • Steele-Richardson-Olszewski Syndrome, Atypical, Included
    • Supranuclear Palsy, Progressive, 1, Atypical, Included
  • Pick Disease Of Brain
    • Dementia With Lobar Atrophy And Neuronal Cytoplasmic Inclusions
    • Lobar Atrophy Of Brain
  • Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy
    • Brain-Bone-Fat Disease
    • Dementia, Prefrontal, With Bone Cysts
    • Dementia, Progressive, With Lipomembranous Polycystic
    • Nasu-Hakola Disease
    • Osteodysplasia
    • Presenile Dementia With Bone Cysts
  • Spongiform Encephalopathy With Neuropsychiatric Features
  • Supranuclear Palsy, Progressive, 1
    • Steele-Richardson-Olszewski Syndrome
  • amyloid beta precursor protein
    • alzheimer disease 1, included
    • amyloid beta (A4) precursor protein
    • amyloid of aging and alzheimer disease
    • cerebral vascular amyloid peptide
    • protease nexin II, included
  • charged multivesicular body protein 2B
    • charged multivesicular body protein 2B
    • chromatin modifying protein 2B
    • chromatin-modifying protein 2B
    • vacuolar protein sorting 2, yeast, homolog of, B
  • colony stimulating factor 1 receptor
    • CD115 antigen
    • McDonough feline sarcoma viral (v-fms) oncogene homolog
    • oncogene fms
    • v-fms mcdonough feline sarcoma viral oncogene homolog, formerly
  • FUS RNA binding protein
    • fused in sarcoma
    • heterogeneous nuclear ribonucleoprotein p2
    • translocated in liposarcoma
  • granulin precursor
  • HTRA serine peptidase 1
    • Htra, e. coli, homolog of
    • protease, serine, 11
    • protease, serine, 11 (IGF binding)
  • integral membrane protein 2B
  • microtubule associated protein TAU
    • microtubule-associated protein TAU
    • tauopathy and respiratory failure, included
  • notch 3
    • notch homolog 3 (drosophila)
    • notch, drosophila, homolog of, 3
  • presenilin 1
    • presenilin 1 (alzheimer disease 3)
    • ps1
    • s182
  • presenilin 2
    • presenilin 2
    • presenilin 2 (alzheimer disease 4)
  • prion protein
    • prion protein (p27-30)
    • prion-related protein
  • TAR DNA binding protein
  • triggering receptor expressed on myeloid cells 2
    • triggering receptor expressed on myeloid cells 2a
  • TYRO protein tyrosine kinase binding protein
    • DNAX-activation protein 12
    • killer activating receptor associated protein
  • valosin containing protein
    • CDC48, yeast, homolog of
    • valosin-containing protein
Dermatology 265 Gene Exome Panel (consisting of 8 tests)

London North East RGC GOSH - 2017

  • Brittle Cornea Syndrome 1
    • Corneal Fragility, Keratoglobus, Blue Sclerae, Joint Hyperextensibility
    • Dysgenesis Mesodermalis Corneae Et Sclerae
    • Ehlers-Danlos Syndrome, Type VIB
    • Fragilitas Oculi With Joint Hyperextensibility
  • Brittle Cornea Syndrome 2
  • Buschke-Ollendorff Syndrome
    • Dermatofibrosis Lenticularis Disseminata With Osteopoikilosis
    • Dermatofibrosis, Disseminated, With Osteopoikilosis
    • Dermatoosteopoikilosis
    • Osteopathia Condensans Disseminata
  • Cutis Laxa, Autosomal Dominant 1
  • Cutis Laxa, Autosomal Dominant 2
  • Cutis Laxa, Autosomal Recessive, Type IA
  • Cutis Laxa, Autosomal Recessive, Type IB
  • Cutis Laxa, Autosomal Recessive, Type IIA
  • Cutis Laxa, Autosomal Recessive, Type IIB
    • Cutis Laxa With Progeroid Features
  • Cutis Laxa, Autosomal Recessive, Type IIIA
    • Cutis Laxa, Corneal Clouding, And Mental Retardation
    • De Barsy Syndrome A
    • Progeroid Syndrome Of De Barsy
  • Cutis Laxa, Autosomal Recessive, Type IIIB
    • De Barsy Syndrome B
  • Ehlers-Danlos Syndrome Due To Tenascin-X Deficiency
  • Ehlers-Danlos Syndrome With Progressive Kyphoscoliosis, Myopathy, And Hearing Loss
  • Ehlers-Danlos Syndrome With Short Stature And Limb Anomalies
    • Dermatan Sulfate Proteoglycan
    • Ehlers-Danlos Syndrome, Progeroid Type, 1
    • Galactosyltransferase I Deficiency
    • PDS, Defective Biosynthesis Of
    • Proteodermatan Sulfate, Defective Biosynthesis Of
    • XGPT Deficiency
    • Xylosylprotein 4-Beta-Galactosyltransferase Deficiency
  • Ehlers-Danlos Syndrome, Autosomal Recessive, Cardiac Valvular Form
  • Ehlers-Danlos Syndrome, Classic Type
    • Eds I
    • Ehlers-Danlos Syndrome, Gravis Type
    • Ehlers-Danlos Syndrome, Severe Classic Type
    • Ehlers-Danlos Syndrome, Type I
  • Ehlers-Danlos Syndrome, Musculocontractural Type, 2
  • Ehlers-Danlos Syndrome, Progeroid Type, 2
  • Ehlers-Danlos Syndrome, Type IV, Autosomal Dominant
    • Eds IV
    • Ehlers-Danlos Syndrome, Arterial Type
    • Ehlers-Danlos Syndrome, Ecchymotic Type
    • Ehlers-Danlos Syndrome, Sack-Barabas Type
    • Ehlers-Danlos Syndrome, Vascular Type
  • Ehlers-Danlos Syndrome, Type VI
    • Eds VI
    • Ehlers-Danlos Syndrome, Kyphoscoliotic Type
    • Ehlers-Danlos Syndrome, Ocular-Scoliotic Type
    • Ehlers-Danlos Syndrome, Type VIa, Formerly
  • Ehlers-Danlos Syndrome, Type VII, Autosomal Dominant
    • Arthrochalasis Multiplex Congenita EDS VII, Mutant Procollagen Type
    • EDS VIIB, Included
    • EDS7B, Included
    • Ehlers-Danlos Syndrome, Arthrochalasia Type Eds VIIA
  • Ehlers-Danlos Syndrome, Type VII, Autosomal Recessive
    • Dermatosparaxis
    • Ehlers-Danlos Syndrome, Dermatosparaxis Type
  • Hutchinson-Gilford Progeria Syndrome
    • Myopathy, Early-Onset, With Progeroid Features, Included
    • Progeria
  • Lipodystrophy, Familial Partial, Type 2
    • Fpl2
    • Lipoatrophic Diabetes
    • Lipodystrophy, Familial Partial, Dunnigan Type
    • Lipodystrophy, Familial, Of Limbs And Lower Trunk
    • Lipodystrophy, Reverse Partial
  • Lipoid Proteinosis Of Urbach And Wiethe
  • Loeys-Dietz Syndrome 1
    • Aortic Aneurysm, Familial Thoracic 5
    • Furlong Syndrome
    • Loeys-Dietz Aortic Aneurysm Syndrome
    • Loeys-Dietz Syndrome, type 1
  • Loeys-Dietz Syndrome 2
    • Loeys-Dietz Syndrome, Type 2
  • MACS Syndrome
    • Macrocephaly, Alopecia, Cutis Laxa, And Scoliosis
    • Tall Forehead, Sparse Hair, Skin Hyperextensibility, And Scoliosis
  • Mandibuloacral Dysplasia With Type B Lipodystrophy
    • Lipodystrophy, Type B, Associated With Mandibuloacral Dysplasia
  • Nestor-Guillermo Progeria Syndrome
    • Progeria Syndrome, Childhood-Onset, With Osteolysis
  • Polyarteritis Nodosa, Childhood-Onset
    • ADA2 Deficiency
  • Pseudoxanthoma Elasticum
    • Gronblad-Strandberg Syndrome
  • Restrictive Dermopathy, Lethal
    • Fetal Hypokinesia Sequence Due To Restrictive Dermopathy
    • Hyperkeratosis-Contracture Syndrome
    • Tight Skin Contracture Syndrome, Lethal
  • Spondylocheirodysplasia, Ehlers-Danlos Syndrome-Like
    • SCD-EDS
  • Stiff Skin Syndrome
  • ADAM metallopeptidase with thrombospondin type 1 motif, 2
    • a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 2
  • adenosine deaminase 2
    • cat eye syndrome chromosome region, candidate 1
  • aldehyde dehydrogenase 18 family, member A1
    • pyrroline-5-carboxylate synthetase (glutamate gamma-semialdehyde synthetase)
  • ATP-binding cassette, sub-family C, member 6
    • anthracycline resistance-associated protein
    • ATP-binding cassette, sub-family C (CFTR/MRP), member 6
    • multidrug resistance-associated protein 6
    • pseudoxanthoma elasticum
  • ATPase H+ transporting V0 subunit A2
    • ATPase, H+ transporting, lysosomal V0 subunit a isoform 2
    • ATPase, H+ transporting, lysosomal V0 subunit A2
    • infantile malignant osteopetrosis
  • barrier to autointegration factor 1
    • BAF
  • beta-1,3-galactosyltransferase 6
  • beta-1,4-galactosyltransferase 7
    • xylosylprotein beta 1,4-galactosyltransferase, polypeptide 7
  • carbohydrate sulfotransferase 14
    • carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 14
    • dermatan 4 sulfotransferase 1
  • collagen, type I, alpha 1
    • COL1A1/PDGFB fusion gene, included
    • collagen of skin, tendon, and bone, alpha-1 chain
    • collagen, type I, alpha-1
  • collagen, type I, alpha 2 chain
    • collagen of skin, tendon, and bone, alpha-2 chain
    • collagen, type I, alpha 2
    • collagen, type I, alpha-2
  • collagen, type III, alpha 1 chain
    • collagen, type III, alpha 1 ehlers-danlos syndrome type IV, autosomal dominant
  • collagen, type V, alpha 1
    • alpha 1 type v collagen
  • collagen, type V, alpha 2 chain
    • ab collagen
    • collagen, fetal membrane, a polypeptide
    • collagen, type V, alpha 2
  • dermatan sulfate epimerase
    • DS-Epi1
    • DSEPI
  • EGF containing fibulin-like extracellular matrix protein 2
    • EGF-containing fibulin-like extracellular matrix protein 2
  • elastin
  • extracellular matrix protein 1
    • 0
  • fibrillin 1
    • fibrillin
    • fibrillin 1 (marfan syndrome)
  • fibulin 5
  • FK506 binding protein 14
    • FK506 binding protein 14 (22 kDa)
    • FK506 binding protein 14, 22 kDa
  • lamin A/C
    • lamin A
    • lamin C
    • prelamin A
  • LEM domain containing 3
    • integral inner nuclear membrane protein
    • man antigen 1
  • PR/SET domain 5
    • PR domain containing 5
  • procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1
    • lysine hydroxylase
    • lysyl hydroxylase
    • lysyl hydroxylase 1
    • procollagen-lysine 1, 2-oxoglutarate 5-dioxygenase 1
  • pyrroline-5-carboxylate reductase 1
  • Ras and Rab interactor 2
  • solute carrier family 39 member 13
    • solute carrier family 39 (metal ion transporter), member 13
    • solute carrier family 39 (zinc transporter) member 13
  • tenascin XB
  • transforming growth factor, beta receptor 1
    • activin a receptor type II-like kinase, 53kda
  • transforming growth factor, beta receptor 2
    • colorectal cancer, hereditary nonpolyposis type 6
    • transforming growth factor, beta receptor II (70-80kd)
  • zinc finger protein 469
  • zinc metallopeptidase STE24
Dermatology 265 Gene Exome Panel (consisting of 8 tests)

London North East RGC GOSH - 2017

  • Angioedema, Hereditary, Type III
    • Angioneurotic Edema, Hereditary, With Normal C1 Inhibitor Concentration And Function
    • Estrogen-Related HAE
    • Estrogen-Sensitive HAE
    • HAE With Normal C1 Inhibitor Concentration And Function
    • Hereditary Angioedema With Normal C1 Inhibitor Activity
  • Ataxia-Telangiectasia
    • AT, Complementation Group A, Included
    • AT, Complementation Group C, Included
    • AT, Complementation Group D, Included
    • At, Complementation Group E, Included
    • ATaxia-Telangiectasia Variant, Included
    • Louis-Bar Syndrome
  • Capillary Malformation-Arteriovenous Malformation
  • Cerebral Cavernous Malformations
    • Cavernous Angioma, Familial
    • Cavernous Angiomatous Malformations
    • Cavernous Malformations Of Cns And Retina, Included
    • Cerebral Capillary Malformations
    • Cerebral Cavernous Malformations 1, Included; Ccm1, Included
    • Hemangioma, Cavernous, Of Brain
    • Hyperkeratotic Cutaneous Capillary-Venous Malformations Associated With Cerebral Capillary Malformations, Included
  • Cutaneous Telangiectasia And Cancer Syndrome, Familial
    • Telangiectasia, Cutaneous, And Cancer Syndrome, Familial
  • Erythermalgia, Primary
    • Erythromelalgia, Familial
    • Erythromelalgia, Primary
  • Glomuvenous Malformations
    • Glomangiomas, Multiple
    • Glomus Tumors, Multiple
    • Venous Malformations With Glomus Cells
  • Hemangioma, Capillary Infantile
  • Hennekam Lymphangiectasia-Lymphedema Syndrome 1
    • Lymphatic Dysplasia, Generalized
  • Hypotrichosis-Lymphedema-Telangiectasia Syndrome
  • Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
  • Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome
    • JP/HHT Syndrome
    • Juvenile Polyposis With Hereditary Hemorrhagic Telangiectasia
    • Polyposis, Generalized Juvenile, With Pulmonary Arteriovenous Malformation
    • Telangiectasia, Hereditary Hemorrhagic, With Juvenile Polyposis Coli
  • Keratosis, Seborrheic
  • Lymphedema, Hereditary, IA
    • Lymphedema, Early-Onset
    • Lymphedema, Hereditary, I
    • Milroy Disease
    • Nonne-Milroy Lymphedema
    • Primary Congenital Lymphedema
  • Lymphedema-Distichiasis Syndrome
    • Lymphedema With Distichiasis
  • Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
    • Macrocephaly-Capillary Malformation
    • Macrocephaly-Cutis Marmorata Telangiectatica Congenita
    • Megalencephaly-Capillary Malformation Syndrome
    • Megalencephaly-Cutis Marmorata Telangiectatica Congenita
  • Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
    • MEG-PMG-MEGACC Syndrome
    • Megalencephaly, Mega Corpus Callosum, And Complete Lack Of Motor Development
    • Megalencephaly, Polymicrogyria, Mega Corpus Callosum Syndrome
  • Nevus, Epidermal
    • Nevus, Keratinocytic, Nonepidermolytic
    • Pigmented Moles
  • STING-Associated Vasculopathy, Infantile-Onset
    • 0
  • Sturge-Weber Syndrome
  • Telangiectasia, Hereditary Hemorrhagic, Of Rendu, Osler, And Weber
    • Orw Disease
    • Osler-Rendu-Weber Disease
    • Telangiectasia, Hereditary Haemorrhagic, Of Rendu, Osler, And Weber
    • Telangiectasia, Hereditary Hemorrhagic, Type 1
  • Venous Malformations, Multiple Cutaneous And Mucosal
    • Vmcm1
  • ATM serine/threonine kinase
    • ataxia telangiectasia mutated
    • tel1, telomere maintenance 1, homolog (s. cerevisiae)
  • ATR serine/threonine kinase
    • ataxia telangiectasia and RAD3 related
    • ATR gene
    • FRAP-related protein 1
  • coagulation factor XII
    • coagulation factor XII (Hageman factor)
    • Hageman factor
  • collagen and calcium binding EGF domains 1
  • endoglin
    • osler-rendu-weber syndrome 1
  • fms related tyrosine kinase 4
    • FMS-like tyrosine kinase 4
    • vascular endothelial growth factor receptor 3
  • forkhead box C2
    • forkhead box C2 (MFH-1, mesenchyme forkhead 1)
    • forkhead, drosophila, homolog-like 14
    • mesenchyme forkhead 1
  • G protein subunit alpha 11
    • FBH
    • FBH2
    • FHH2
    • guanine nucleotide binding protein (G protein), alpha 11 (Gq class)
  • G protein subunit alpha q
    • G-ALPHA-q
    • GAQ
  • glomulin, FKBP associated protein
    • FAP48
    • FKBPAP
    • GLML
    • GVM
  • kinase insert domain receptor
    • CD309
    • FLK1
    • VEGFR
    • VEGFR2
  • KRIT1, ankyrin repeat containing
    • CCM1 gene
    • KREV interaction trapped 1
  • phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha
    • p110-alpha
    • phosphatidylinositol 3-kinase, catalytic, 110-kD, alpha
    • phosphoinositide-3-kinase, catalytic, alpha polypeptide
    • PI3K-alpha
    • PIK3-alpha
  • phosphoinositide-3-kinase, regulatory subunit 2
  • RAS p21 protein activator 1
  • SMAD family member 4
    • deleted in pancreatic carcinoma 4
    • mothers against decapentaplegic, drosophila, homolog of, 4
    • SMA- and MADrelated protein 4
    • SMAD, mothers against DPP homolog 4 (drosophila)
  • sodium voltage-gated channel alpha subunit 9
    • neuroendocrine sodium channel
    • peripheral sodium channel 1
    • sodium channel, voltage-gated, type IX, alpha subunit
  • SRY-box 18
    • 0
  • TEK receptor tyrosine kinase
    • CD202b
    • TIE-2
    • TIE2
    • VMCM1
  • transmembrane protein 173
    • stimulator of interferon genes
    • STING
Dermatology 265 Gene Exome Panel (consisting of 8 tests)

London North East RGC GOSH - 2017

  • Ablepharon-Macrostomia Syndrome
  • Acrokeratosis Verruciformis
  • Adermatoglyphia
    • Fingerprints, Absence Of
  • ADULT Syndrome
    • Acro-Dermato-Ungual-Lacrimal-Tooth Syndrome
  • Amelogenesis Imperfecta, Type IA
    • Amelogenesis Imperfecta, Hypoplastic Type IA
  • Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
    • Aec Syndrome
    • Hay-Wells Syndrome
  • Arrhythmogenic Right Ventricular Dysplasia, Familial, 11
    • Arrhythmogenic Right Ventricular Cardiomyopathy 11
    • Arrhythmogenic Right Ventricular Dysplasia, Familial, 11, And Mild Palmoplantar Keratoderma With Or Without Woolly Hair, Included
  • Barber-Say Syndrome
  • Chondrodysplasia Punctata 1, X-Linked Recessive
    • Chondrodysplasia Punctata, Brachytelephalangic
    • Cpxr
  • Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
    • Cleft Lip With Or Without Cleft Palate, Nonsyndromic, 7, Included
    • Ectodermal Dysplasia, Cleft Lip And Palate, Mental Retardation, And Syndactyly
    • Ectodermal Dysplasia, Margarita Island Type
    • Ectodermal Dysplasia, Type 4
    • Orofacial Cleft 7, Included
    • Zlotogora-Ogur Syndrome
  • Clouston Syndrome
    • Clouston Hidrotic Ectodermal Dysplasia
    • Ectodermal Dysplasia 2, Hidrotic
    • Ectodermal Dysplasia, Hidrotic
    • Ectodermal Dysplasia, Hidrotic, Autosomal Dominant
  • Cutaneous Telangiectasia And Cancer Syndrome, Familial
    • Telangiectasia, Cutaneous, And Cancer Syndrome, Familial
  • Darier-White Disease
  • Dermatopathia Pigmentosa Reticularis
  • Dowling-Degos Disease 1
  • Dowling-Degos Disease 2
    • .
  • Dowling-Degos Disease 4
  • Dyskeratosis Congenita, X-Linked
    • Zinsser-Cole-Engman Syndrome
  • Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
    • Christ-Siemens-Touraine Syndrome
    • CST Syndrome
    • Ectodermal Dysplasia 1
    • Ectodermal Dysplasia 1, Anhidrotic
    • Ectodermal Dysplasia, Anhidrotic
    • Ectodermal Dysplasia, Hypohidrotic
    • Ectodermal Dysplasia, Hypohidrotic, 1
    • Ectodermal Dysplasia, Hypohidrotic, X-Linked
  • Ectodermal Dysplasia 10A, Hypohidrotic/Hair/Nail Type, Autosomal Dominant
    • Ectodermal Dysplasia 3, Anhidrotic
    • Ectodermal Dysplasia, Hypohidrotic, Autosomal Dominant
  • Ectodermal Dysplasia 10B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive
    • Ectodermal Dysplasia, Anhidrotic
    • Ectodermal Dysplasia, Hypohidrotic, Autosomal Recessive
  • Ectodermal Dysplasia 11A, Hypohidrotic/Hair/Tooth Type, Autosomal Dominant
    • Ectodermal Dysplasia, Hypohidrotic, Autosomal Dominant
  • Ectodermal Dysplasia 11B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive
    • Ectodermal Dysplasia, Anhidrotic
    • Ectodermal Dysplasia, Hypohidrotic
  • Ectodermal Dysplasia 4, Hair/Nail Type
    • Ectodermal Dysplasia, 'Pure' Hair/Nail Type
  • Ectodermal Dysplasia 9, Hair/Nail Type
  • Ectodermal Dysplasia, Anhidrotic, With Immunodeficiency, Osteopetrosis, And Lymphedema
  • Ectodermal Dysplasia, Anhidrotic, With T-Cell Immunodeficiency, Autosomal Dominant
  • Ectodermal Dysplasia, Ectrodactyly, And Macular Dystrophy Syndrome
  • Ectodermal Dysplasia, Hypohidrotic, With Immune Deficiency
  • Ectodermal Dysplasia-Syndactyly Syndrome 1
  • Ectodermal Dysplasia/Short Stature Syndrome
  • Ectodermal Dysplasia/Skin Fragility Syndrome
    • McGrath Syndrome
  • Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
    • Eec Syndrome 3
  • Epidermolytic Hyperkeratosis
    • Bullous Congenital Ichthyosiform Erythroderma
    • Bullous Erythroderma Ichthyosiformis Congenita Of Brocq
    • Bullous Ichthyosiform Erythroderma
    • Epidermolytic Hyperkeratosis
    • Epidermolytic Hyperkeratosis, Late-Onset, Included
  • Erythroderma, Congenital, with Palmoplantar Keratoderma, Hypotrichosis, and Hyper IgE
    • Severe Dermatitis, Multiple Allergies, and Metabolic Wasting Syndrome
  • Erythrokeratodermia Variabilis Et Progressiva
    • Erythrokeratodermia Figurata, Congenital Familial, In Plaques
    • Erythrokeratodermia Variabilis
    • Erythrokeratodermia Variabilis With Erythema Gyratum Repens
    • Erythrokeratodermia, Progressive Symmetric
  • Focal Dermal Hypoplasia
    • Fodh|Goltz Syndrome
    • Goltz-Gorlin Syndrome
  • Focal Facial Dermal Dysplasia 3, Setleis Type
  • Histiocytosis-Lymphadenopathy Plus Syndrome
    • Histiocytosis And Lymphadenopathy With Or Without Cutaneous, Cardiac, And/Or Endocrine Features, Joint Contractures, And/Or Deafness|Hyperpigmentation, Cutaneous, With Hypertrichosis, Hepatosplenomegaly, Heart Anomalies, And Hypogonadism With Or Without H
  • Hypotrichosis 2
    • .
  • Hypotrichosis 4
    • Hypotrichosis, Marie Unna Type, 1
    • Marie Unna Hereditary Hypotrichosis 1
  • Hypotrichosis 6
  • Hypotrichosis 7
    • Hypotrichosis, Autosomal Recessive
    • Hypotrichosis, Localized, Autosomal Recessive 2
    • Hypotrichosis, Total, Mari Type
  • Hypotrichosis 8
    • Hypotrichosis, Localized, Autosomal Recessive 3
  • Hypotrichosis And Recurrent Skin Vesicles
  • Hypotrichosis-Lymphedema-Telangiectasia Syndrome
  • Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
  • Ichthyosis Hystrix, Curth-Macklin Type
  • Ichthyosis, Cyclic, With Epidermolytic Hyperkeratosis
  • Ichthyosis, Hystrix-Like, With Deafness
    • HID Syndrome
    • Hystrix-like Ichthyosis With Deafness
  • IFAP Syndrome With Or Without BRESHECK Syndrome
    • Ichthyosis Follicularis, Atrichia, And Photophobia With Or Without Brain Anomalies, Retardation, Ectodermal Dysplasia, Skeletal Malformations, Hirschsprung Disease, Ear/Eye Anomalies, Cleft Palate/Cryptorchidism, And Kidney Dysplasia/Hypoplasia
  • Incontinentia Pigmenti
    • Bloch-Sulzberger Syndrome
    • Incontinentia Pigmenti, Familial Male-Lethal Type
    • Incontinentia Pigmenti, Type II, Formerly
  • Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant
    • KID Syndrome, Autosomal Dominant
  • Keratoderma, Palmoplantar, With Deafness
    • 0
  • Keratosis Follicularis Spinulosa Decalvans, X-Linked
  • Keratosis Palmoplantaris Striata II
    • Keratoderma, Palmoplantar, Striate Form II
    • Striate Palmoplantar Keratoderma II
  • Keratosis Palmoplantaris Striata III
    • .
  • Knuckle Pads, Leukonychia, And Sensorineural Deafness
    • Bart-Pumphrey syndrome
  • Laryngoonychocutaneous Syndrome
  • MACS Syndrome
    • Macrocephaly, Alopecia, Cutis Laxa, And Scoliosis
    • Tall Forehead, Sparse Hair, Skin Hyperextensibility, And Scoliosis
  • Menkes Disease
    • Copper Transport Disease
    • Kinky Hair Disease
    • Menkes Syndrome
    • Steely Hair Disease
  • Naegeli-Franceschetti-Jadassohn Syndrome
    • Naegeli Syndrome
    • NFJ Syndrome
  • Naxos Disease
    • Cardiomyopathy, Arrhythmogenic Right Ventricular, With Skin, Hair, And Nail Abnormalities
    • Keratosis Palmoplantaris With Arrhythmogenic Cardiomyopathy
    • Mal De Naxos
    • Palmoplantar Keratoderma With Arrhythmogenic Right Ventricular Cardiomyopathy And Woolly Hair
    • Woolly Hair, Palmoplantar Keratoderma, And Cardiac Abnormalities
  • Noonan Syndrome-Like Disorder With Loose Anagen Hair
    • Tosti Syndrome
  • Odontoonychodermal Dysplasia
  • Omenn Syndrome
    • Reticuloendotheliosis, Familial, With Eosinophilia
    • Severe Combined Immunodeficiency With Hypereosinophilia
  • Pachyonychia Congenita 1
    • Jadassohn-Lewandowsky Syndrome
    • Pachyonychia Congenita, Jadassohn-Lewandowsky Type
    • Pachyonychia Congenita, Type 1
  • Pachyonychia Congenita 2
    • Pachyonychia Congenita, Jackson-Lawler Type
    • Pachyonychia Congenita, Type 2
  • Pachyonychia Congenita 3
    • 0
  • Pachyonychia Congenita 4
    • 0
  • Palmoplantar Keratoderma And Woolly Hair
  • Palmoplantar Keratoderma I, Striate, Focal, Or Diffuse
  • Palmoplantar Keratoderma With Congenital Alopecia
    • Keratoderma-Hypotrichosis-Leukonychia
    • PPKCA, Stevanovic Type
    • Totalis Syndrome
  • Palmoplantar Keratoderma, Epidermolytic
    • Hyperkeratosis, Localized Epidermolytic
    • Keratoderma, Epidermolytic Palmoplantar
    • Keratosis Of Greither
    • Keratosis Palmaris Et Plantaris Familiaris
    • Palmoplantar Keratoderma, Epidermolytic, With Knuckle Pads, Included
    • Palmoplantar Keratoderma, Vorner Type
    • Tylosis
    • Unilateral Palmoplantar Verrucous Nevus, Included
    • Unna-Thost Disease, Epidermolytic
  • Palmoplantar Keratoderma, Mutilating, With Periorificial Keratotic Plaques, X-Linked
  • Palmoplantar Keratoderma, Nonepidermolytic
  • Palmoplantar Keratoderma, Nonepidermolytic, Focal 1
  • Peeling Skin Syndrome 1
  • Peeling Skin With Leukonychia, Acral Punctate Keratoses, Cheilitis, And Knuckle Pads
  • Poikiloderma With Neutropenia
    • Poikiloderma With Neutropenia, Clericuzio-Type
  • Rapp-Hodgkin Syndrome
    • Ectodermal Dysplasia, Anhidrotic, With Cleft Lip/palate
  • Reticulate Acropigmentation Of Kitamura
  • Rothmund-Thomson Syndrome
    • Poikiloderma Atrophicans And Cataract
  • Schopf-Schulz-Passarge Syndrome
    • Eccrine Tumors With Ectodermal Dysplasia
    • Keratosis Palmoplantaris With Cystic Eyelids, Hypodontia, And Hypotrichosis
  • Steatocystoma Multiplex
  • Tooth Agenesis, Selective, 4
  • Witkop Syndrome
    • Dysplasia Of Nails With Hypodontia
    • Tooth-And-Nail Syndrome
  • ADAM metallopeptidase domain 10
    • a disintegrin and metalloproteinase domain 10
    • CD156c
    • HsT18717
    • kuz
  • arylsulfatase E (chondrodysplasia punctata 1)
  • ATPase copper transporting alpha
    • ATPase, Cu++ transporting, alpha polypeptide
  • ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2
    • SERCA2
  • ATR serine/threonine kinase
    • ataxia telangiectasia and RAD3 related
    • ATR gene
    • FRAP-related protein 1
  • cadherin 3
  • calpastatin
    • 0
  • corneodesmosin
    • D6S586E
  • desmocollin 2
    • desmocollin 3, formerly
    • desmosomal glycoprotein II/III
  • desmocollin 3
    • CDHF3
    • DSC
    • DSC1
    • DSC2
  • desmoglein 1
    • CDHF4
  • desmoglein 4
    • CDHF13
    • LAH
  • desmoplakin
    • desmoplakin I
    • desmoplakin II
  • DNA cross-link repair 1C
    • DNA cross-link repair 1c (PSO2 homolog, s. cerevisiae)
  • dyskerin pseudouridine synthase 1
    • dyskeratosis congenita 1, dyskerin
    • dyskerin
    • NOPP140-associated protein, 57-KD
  • ectodysplasin A
    • ectodysplasin
    • ectodysplasin A
    • ectodysplasin A1 isoform, included
    • ectodysplasin A2 isoform, included
    • ED1 gene
    • EDA-A1, included
    • EDA-A2, included
    • EDA1 gene
  • ectodysplasin A receptor
    • downless, mouse, homolog of
    • ectodysplasin 1, anhidrotic receptor
    • ectodysplasin A1 isoform receptor
    • ectodysplasin receptor
    • EDA-A1 receptor
    • EDA-A1R
  • ectodysplasin A2 receptor
    • 0
  • EDAR associated death domain
  • gap junction protein, alpha 1
    • gap junction protein, alpha 1, 43kDa
    • gap junction protein, alpha 1, 43kDa (connexin 43)
    • gap junction protein, alpha-like
  • gap junction protein, beta 2
    • connexin 26
    • gap junction protein, 26-kd
    • gap junction protein, beta 2, 26kDa
    • gap junction protein, beta 2, 26kda (connexin 26)
    • gap junction protein, beta-2
  • gap junction protein, beta 3
    • erythrokeratodermia variabilis
    • gap junction protein, beta 3, 31kD (connexin 31)
    • gap junction protein, beta 3, 31kDa
    • gap junction protein, beta 3, 31kDa (connexin 31)
  • gap junction protein, beta 4
    • CX30.3
  • gap junction protein, beta 6
    • connexin 30
    • gap junction protein, beta 6 (connexin 30)
    • gap junction protein, beta 6, 30kDa
    • gap junction protein, beta-6
  • grainyhead-like transcription factor 2
    • deafness, autosomal dominant 28
    • grainyhead-like 2 (Drosophila)
    • transcription factor CP2-like 3
  • homeobox C13
    • 0
  • HR, lysine demethylase and nuclear receptor corepressor
    • AU
    • hair growth associated
  • inhibitor of nuclear factor kappa B kinase subunit gamma
    • IKK-gamma
    • incontinentia pigmenti
    • inhibitor of kappa light polypeptide gene enhancer in B cells, kinase of, gamma
    • inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma
    • NF-KAPPA-B Essential Modulator
  • junction plakoglobin
    • catenin (cadherin-associated protein), gamma 80kDa
    • catenin, gamma
    • desmoplakin III
    • plakoglobin
  • keratin 1
    • cytokeratin 1
    • epidermolytic hyperkeratosis
    • keratin 1
  • keratin 14
    • cytokeratin 14
    • keratin 14
    • keratin 14(epidermolysis bullosa simplex, dowling-meara, koebner)
  • keratin 16
    • cytokeratin 16
    • focal non-epidermolytic palmoplantar keratoderma
    • keratin 16
  • keratin 17
    • cytokeratin 17
  • keratin 5
    • epidermolysis bullosa simplex, dowling-meara/kobner/weber-cockayne types
    • keratin 5
  • keratin 6A
    • keratin, epidermal type II, K6A
  • keratin 6B
    • keratin, epidermal type II, K6B
  • keratin 85
    • keratin 85, type II
    • keratin, hair, basic, 5
  • KN motif and ankyrin repeat domains 2
    • KIAA1518
  • laminin subunit alpha 3
    • BM600-150kDa
    • epiligrin, k
    • kalinin-165kDa
    • laminin, alpha 3
    • laminin, alpha 3 (nicein (150kD), kalinin (165kD), BM600 (150kD), epilegrin)
    • nicein-150kDa
  • laminin subunit beta 3
    • BM600-125kDa
    • kalinin-140kDa
    • laminin, beta 3
    • laminin, beta 3 (nicein (125kD), kalinin (140kD), BM600 (125kD))
    • nicein-125kDa
  • lipase H
    • lipase, member H
  • lysophosphatidic acid receptor 6
    • purinergic receptor P2Y, G-protein coupled, 5
  • membrane bound transcription factor peptidase, site 2
    • keratosis follicularis spinulosa decalvans
    • membrane-bound transcription factor protease, site 2
  • msh homeobox 1
    • homeobox 7
    • msh homeo box homolog 1 (drosophila)
    • msh, drosophila, homolog of, 1
    • muscle segment homeobox, drosophila, homolog of, 1
  • nectin cell adhesion molecule 1
    • ED4
    • HVEC
    • PVRL1
  • nectin cell adhesion molecule 4
    • LNIR
    • nectin-4
    • PRR4
  • NFKB inhibitor alpha
    • IkappaBalpha
    • IKBA
    • MAD-3
  • plakophilin 1
    • plakophilin 1 (ectodermal dysplasia/skin fragility syndrome)
  • porcupine O-acyltransferase
    • MG61
    • por
    • PORC
    • porcupine homolog (Drosophila)
    • PPN
  • protein O-fucosyltransferase 1
    • FUT12
    • KIAA0180
    • O-FUT, O-Fuc-T
  • protein O-glucosyltransferase 1
    • 9630046K23Rik
    • hCLP46
    • KDELCL1
    • MDS010
    • MDSRP
    • MGC32995
    • Rumi
  • Ras and Rab interactor 2
  • recombination activating 1
    • recombination activating gene 1
    • recombination-activating gene 1
  • recombination activating 2
    • recombination activating gene 2
    • recombination-activating gene 2
  • RecQ-like helicase 4
    • DNA helicase, RECQ-like, type 4
    • RecQ protein-like 4
  • SHOC2, leucine-rich repeat scaffold protein
    • RAS-binding protein SUR8, c. elegans, homolog of
    • soc-2 (suppressor of clear, C.elegans) homolog
    • soc-2 suppressor of clear homolog (C. elegans)
  • solute carrier family 29 member 3
    • ENT3
    • FLJ11160
  • SRY-box 18
    • 0
  • SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily A, containing DEAD/H box 1
    • 0
  • tumor protein p63
    • tumor protein P53-competing protein
    • tumor protein P53-like
    • tumor protein P73-like
  • twist family bHLH transcription factor 2
  • U6 snRNA biogenesis phosphodiesterase 1
    • FLJ13154
    • HVSL1
    • Mpn1
  • Wnt family member 10A
    • wingless-type MMTV integration site family, member 10A
Dermatology 265 Gene Exome Panel (consisting of 8 tests)

London North East RGC GOSH - 2017

  • Amelogenesis Imperfecta, Type IA
    • Amelogenesis Imperfecta, Hypoplastic Type IA
  • Arrhythmogenic Right Ventricular Dysplasia, Familial, 11
    • Arrhythmogenic Right Ventricular Cardiomyopathy 11
    • Arrhythmogenic Right Ventricular Dysplasia, Familial, 11, And Mild Palmoplantar Keratoderma With Or Without Woolly Hair, Included
  • Dermatopathia Pigmentosa Reticularis
  • Dowling-Degos Disease 1
  • Ectodermal Dysplasia/Skin Fragility Syndrome
    • McGrath Syndrome
  • Epidermolysis Bullosa Dystrophica, Autosomal Dominant
    • .
  • Epidermolysis Bullosa Dystrophica, Autosomal Recessive
  • Epidermolysis Bullosa Junctionalis With Pyloric Atresia
    • Aplasia Cutis Congenita With Gastrointestinal Atresia
    • Carmi Syndrome
    • Eb-Pa-Acc
    • Epidermolysis Bullosa, Junctional, With Pyloric Atresia
    • Epidermolysis Bullosa, Junctional, With Pyloric Atresia And Aplasia Cutis Congenita
    • Jeb-Pa
    • Junctional Epidermolysis Bullosa With Pyloric Atresia
  • Epidermolysis Bullosa Simplex With Migratory Circinate Erythema
  • Epidermolysis Bullosa Simplex With Mottled Pigmentation
  • Epidermolysis Bullosa Simplex With Muscular Dystrophy
    • Epidermolysis Bullosa Simplex And Limb-Girdle Muscular Dystrophy
    • MD-EBS
  • Epidermolysis Bullosa Simplex With Pyloric Atresia
    • EBS With Pyloric Atresia
  • Epidermolysis Bullosa Simplex, Autosomal Recessive 1
  • Epidermolysis Bullosa Simplex, Autosomal Recessive 2
  • Epidermolysis Bullosa Simplex, Dowling-Meara Type
    • Epidermolysis Bullosa Herpetiformis, Dowling-Meara Type
  • Epidermolysis Bullosa Simplex, Generalized
    • Ebs, Generalized
    • Epidermolysis Bullosa Simplex, Koebner Type
  • Epidermolysis Bullosa Simplex, Localized
    • Ebs, Acral Form
    • Epidermolysis Bullosa Of Hands And Feet
    • Weber-Cockayne Type Epidermolysis Bullosa Simplex
  • Epidermolysis Bullosa Simplex, Ogna Type
  • Epidermolysis Bullosa, Junctional, Herlitz Type
  • Epidermolysis Bullosa, Junctional, Non-Herlitz Type
  • Epidermolysis Bullosa, Lethal Acantholytic
    • Lethal Acantholytic Epidermolysis Bullosa
  • Epidermolysis Bullosa, Nonspecific, Autosomal Recessive
  • Epithelial Recurrent Erosion Dystrophy
  • Erythroderma, Congenital, with Palmoplantar Keratoderma, Hypotrichosis, and Hyper IgE
    • Severe Dermatitis, Multiple Allergies, and Metabolic Wasting Syndrome
  • Hypotrichosis 2
    • .
  • Hypotrichosis 6
  • Hypotrichosis And Recurrent Skin Vesicles
  • Interstitial Lung Disease, Nephrotic Syndrome, And Epidermolysis Bullosa, Congenital
  • Kindler Syndrome
  • Laryngoonychocutaneous Syndrome
  • Naegeli-Franceschetti-Jadassohn Syndrome
    • Naegeli Syndrome
    • NFJ Syndrome
  • Naxos Disease
    • Cardiomyopathy, Arrhythmogenic Right Ventricular, With Skin, Hair, And Nail Abnormalities
    • Keratosis Palmoplantaris With Arrhythmogenic Cardiomyopathy
    • Mal De Naxos
    • Palmoplantar Keratoderma With Arrhythmogenic Right Ventricular Cardiomyopathy And Woolly Hair
    • Woolly Hair, Palmoplantar Keratoderma, And Cardiac Abnormalities
  • Nephropathy With Pretibial Epidermolysis Bullosa And Deafness
  • Palmoplantar Keratoderma I, Striate, Focal, Or Diffuse
  • Peeling Skin Syndrome 1
  • Peeling Skin Syndrome 2
    • Acral Peeling Skin Syndrome
    • Peeling Skin Syndrome, Acral Type
    • Peeling Skin Syndrome, Type A
  • Peeling Skin Syndrome 4
    • Ichthyosis Bullosa Of Siemens-Like
    • Ichthyosis, Exfoliative, Autosomal Recessive
  • Peeling Skin With Leukonychia, Acral Punctate Keratoses, Cheilitis, And Knuckle Pads
  • Skin Fragility-Woolly Hair Syndrome
  • calpastatin
    • 0
  • CD151 molecule (Raph blood group)
    • PETA-3
    • RAPH
    • SFA-1
    • TSPAN24
  • collagen, type VII, alpha 1 chain
    • 0
  • collagen, type XVII, alpha 1 chain
    • collagen, type XVII, alpha 1
  • corneodesmosin
    • D6S586E
  • cystatin A
    • 0
  • desmocollin 2
    • desmocollin 3, formerly
    • desmosomal glycoprotein II/III
  • desmocollin 3
    • CDHF3
    • DSC
    • DSC1
    • DSC2
  • desmoglein 1
    • CDHF4
  • desmoglein 4
    • CDHF13
    • LAH
  • desmoplakin
    • desmoplakin I
    • desmoplakin II
  • dystonin
  • exophilin 5
    • SLAC2-B
  • fermitin family member 1
    • FLJ20116
    • KIND1
    • UNC112A
    • URP1
  • integrin subunit alpha 3
  • integrin subunit alpha 6
    • CD49f
  • integrin subunit beta 4
    • integrin, beta 4
  • junction plakoglobin
    • catenin (cadherin-associated protein), gamma 80kDa
    • catenin, gamma
    • desmoplakin III
    • plakoglobin
  • keratin 14
    • cytokeratin 14
    • keratin 14
    • keratin 14(epidermolysis bullosa simplex, dowling-meara, koebner)
  • keratin 5
    • epidermolysis bullosa simplex, dowling-meara/kobner/weber-cockayne types
    • keratin 5
  • laminin subunit alpha 3
    • BM600-150kDa
    • epiligrin, k
    • kalinin-165kDa
    • laminin, alpha 3
    • laminin, alpha 3 (nicein (150kD), kalinin (165kD), BM600 (150kD), epilegrin)
    • nicein-150kDa
  • laminin subunit beta 3
    • BM600-125kDa
    • kalinin-140kDa
    • laminin, beta 3
    • laminin, beta 3 (nicein (125kD), kalinin (140kD), BM600 (125kD))
    • nicein-125kDa
  • laminin subunit gamma 2
    • BM600-100kDa, ,
    • kalinin-105kDa
    • laminin, gamma 2
    • laminin, gamma 2 (nicein (100kD), kalinin (105kD), BM600 (100kD), Herlitz junctional epidermolysis bullosa))
    • nicein-100kDa
  • plakophilin 1
    • plakophilin 1 (ectodermal dysplasia/skin fragility syndrome)
  • plectin
  • transglutaminase 5
Dermatology 265 Gene Exome Panel (consisting of 8 tests)

London North East RGC GOSH - 2017

  • Acrodermatitis Enteropathica, Zinc-Deficiency Type
  • Aicardi-Goutieres Syndrome 1
    • Encephalopathy, Familial Infantile, With Calcification Of Basal Ganglia And Chronic Cerebrospinal Fluid Lymphocytosis
  • Aicardi-Goutieres Syndrome 5
  • Amyloidosis, Primary Localized Cutaneous, 1
  • Chilblain Lupus 1
  • Chilblain Lupus 2
  • Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
    • Christ-Siemens-Touraine Syndrome
    • CST Syndrome
    • Ectodermal Dysplasia 1
    • Ectodermal Dysplasia 1, Anhidrotic
    • Ectodermal Dysplasia, Anhidrotic
    • Ectodermal Dysplasia, Hypohidrotic
    • Ectodermal Dysplasia, Hypohidrotic, 1
    • Ectodermal Dysplasia, Hypohidrotic, X-Linked
  • Ectodermal Dysplasia, Anhidrotic, With Immunodeficiency, Osteopetrosis, And Lymphedema
  • Ectodermal Dysplasia, Hypohidrotic, With Immune Deficiency
  • Epidermolytic Hyperkeratosis
    • Bullous Congenital Ichthyosiform Erythroderma
    • Bullous Erythroderma Ichthyosiformis Congenita Of Brocq
    • Bullous Ichthyosiform Erythroderma
    • Epidermolytic Hyperkeratosis
    • Epidermolytic Hyperkeratosis, Late-Onset, Included
  • Erythroderma, Ichthyosiform, Congenital Reticular
  • Erythrokeratodermia Variabilis Et Progressiva
    • Erythrokeratodermia Figurata, Congenital Familial, In Plaques
    • Erythrokeratodermia Variabilis
    • Erythrokeratodermia Variabilis With Erythema Gyratum Repens
    • Erythrokeratodermia, Progressive Symmetric
  • Hyper-IgE Recurrent Infection Syndrome, Autosomal Dominant
    • Hies, Autosomal Dominant
    • Hyper-IgE Syndrome, Autosomal Dominant
    • Job Syndrome
  • Hyper-IgE Recurrent Infection Syndrome, Autosomal Recessive
    • HIES, Autosomal Recessive
    • Hyper-IgE Syndrome, Autosomal Recessive
  • Ichthyosis Hystrix, Curth-Macklin Type
  • Ichthyosis Vulgaris
    • Ichthyosis Simplex
  • Ichthyosis, Cyclic, With Epidermolytic Hyperkeratosis
  • Incontinentia Pigmenti
    • Bloch-Sulzberger Syndrome
    • Incontinentia Pigmenti, Familial Male-Lethal Type
    • Incontinentia Pigmenti, Type II, Formerly
  • Keratosis Palmoplantaris Striata II
    • Keratoderma, Palmoplantar, Striate Form II
    • Striate Palmoplantar Keratoderma II
  • Mast Cell Disease
  • Omenn Syndrome
    • Reticuloendotheliosis, Familial, With Eosinophilia
    • Severe Combined Immunodeficiency With Hypereosinophilia
  • Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis
  • Palmoplantar Keratoderma With Congenital Alopecia
    • Keratoderma-Hypotrichosis-Leukonychia
    • PPKCA, Stevanovic Type
    • Totalis Syndrome
  • Palmoplantar Keratoderma, Epidermolytic
    • Hyperkeratosis, Localized Epidermolytic
    • Keratoderma, Epidermolytic Palmoplantar
    • Keratosis Of Greither
    • Keratosis Palmaris Et Plantaris Familiaris
    • Palmoplantar Keratoderma, Epidermolytic, With Knuckle Pads, Included
    • Palmoplantar Keratoderma, Vorner Type
    • Tylosis
    • Unilateral Palmoplantar Verrucous Nevus, Included
    • Unna-Thost Disease, Epidermolytic
  • Palmoplantar Keratoderma, Nonepidermolytic
  • Peeling Skin Syndrome 4
    • Ichthyosis Bullosa Of Siemens-Like
    • Ichthyosis, Exfoliative, Autosomal Recessive
  • Piebald Trait
    • Piebaldism
  • Pityriasis Rubra Pilaris
  • Polyarteritis Nodosa, Childhood-Onset
    • ADA2 Deficiency
  • Psoriasis 14, Pustular
    • Interleukin 36 Receptor Antagonist Deficiency|Generalized Pustular Psoriasis|Psorp|Acrodermatitis Continua Of Hallopeau|Palmoplantar Pustulosis
  • Psoriasis 2
    • 0
  • STING-Associated Vasculopathy, Infantile-Onset
    • 0
  • adenosine deaminase 2
    • cat eye syndrome chromosome region, candidate 1
  • caspase recruitment domain family member 14
    • BIMP2
    • CARMA2
  • cystatin A
    • 0
  • cytochrome b-245 beta chain
    • chronic granulomatous disease
    • cytochrome b(558), beta subunit
    • cytochrome b-245, beta chain
    • cytochrome b-245, beta polypeptide
    • NADPH oxidase 2
  • dedicator of cytokinesis 8
  • DNA cross-link repair 1C
    • DNA cross-link repair 1c (PSO2 homolog, s. cerevisiae)
  • ectodysplasin A
    • ectodysplasin
    • ectodysplasin A
    • ectodysplasin A1 isoform, included
    • ectodysplasin A2 isoform, included
    • ED1 gene
    • EDA-A1, included
    • EDA-A2, included
    • EDA1 gene
  • filaggrin
  • gap junction protein, alpha 1
    • gap junction protein, alpha 1, 43kDa
    • gap junction protein, alpha 1, 43kDa (connexin 43)
    • gap junction protein, alpha-like
  • gap junction protein, beta 3
    • erythrokeratodermia variabilis
    • gap junction protein, beta 3, 31kD (connexin 31)
    • gap junction protein, beta 3, 31kDa
    • gap junction protein, beta 3, 31kDa (connexin 31)
  • gap junction protein, beta 4
    • CX30.3
  • inhibitor of nuclear factor kappa B kinase subunit gamma
    • IKK-gamma
    • incontinentia pigmenti
    • inhibitor of kappa light polypeptide gene enhancer in B cells, kinase of, gamma
    • inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma
    • NF-KAPPA-B Essential Modulator
  • interleukin 1 receptor antagonist
  • interleukin 36 receptor antagonist
    • FIL1
    • FIL1(DELTA)
    • FIL1D
    • IL-1F5
    • IL1HY1
    • IL1L1
    • IL1RP3
    • IL36RA
    • MGC29840
  • keratin 1
    • cytokeratin 1
    • epidermolytic hyperkeratosis
    • keratin 1
  • keratin 10
    • (epidermolytic hyperkeratosis
    • cytokeratin 10
    • keratin 10
    • keratosis palmaris et plantaris
  • KIT proto-oncogene receptor tyrosine kinase
    • piebald trait
    • v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog
  • oncostatin M receptor
    • OSMRB
  • recombination activating 1
    • recombination activating gene 1
    • recombination-activating gene 1
  • recombination activating 2
    • recombination activating gene 2
    • recombination-activating gene 2
  • SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1
    • Aicardi-Goutieres syndrome 5
  • signal transducer and activator of transcription 3
    • acute-phase response factor
    • signal transducer and activator of transcription 3 (acute-phase response factor)
  • solute carrier family 39 member 4
    • AWMS2
    • ZIP4
  • three prime repair exonuclease 1
    • aicardi gourieres syndrome 1
  • transmembrane protein 173
    • stimulator of interferon genes
    • STING
Dermatology 265 Gene Exome Panel (consisting of 8 tests)

London North East RGC GOSH - 2017

  • Arrhythmogenic Right Ventricular Dysplasia, Familial, 11
    • Arrhythmogenic Right Ventricular Cardiomyopathy 11
    • Arrhythmogenic Right Ventricular Dysplasia, Familial, 11, And Mild Palmoplantar Keratoderma With Or Without Woolly Hair, Included
  • Arthrogryposis, Renal Dysfunction, And Cholestasis 1
    • Arc Syndrome
    • Arthrogryposis, Renal Dysfunction, And Cholestasis
  • Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratoderma Syndrome
    • Cednik Syndrome
  • Chanarin-Dorfman Syndrome
    • Chanarin-Dorfman Disease
    • Dorfman-Chanarin Syndrome
    • Ichthyosiform Erythroderma With Leukocyte Vacuolation
    • Ichthyotic Neutral Lipid Storage Disease
    • Neutral Lipid Storage Disease With Ichthyosis
    • Triglyceride Storage Disease With Impaired Long-Chain Fatty Acid Oxidation
  • Chondrodysplasia Punctata 1, X-Linked Recessive
    • Chondrodysplasia Punctata, Brachytelephalangic
    • Cpxr
  • Chondrodysplasia Punctata 2, X-Linked Dominant
    • Conradi-Hunermann Syndrome
    • Conradi-Hunermann-Happle Syndrome
    • Happle Syndrome
  • Ectodermal Dysplasia/Skin Fragility Syndrome
    • McGrath Syndrome
  • Epidermolytic Hyperkeratosis
    • Bullous Congenital Ichthyosiform Erythroderma
    • Bullous Erythroderma Ichthyosiformis Congenita Of Brocq
    • Bullous Ichthyosiform Erythroderma
    • Epidermolytic Hyperkeratosis
    • Epidermolytic Hyperkeratosis, Late-Onset, Included
  • Erythroderma, Congenital, with Palmoplantar Keratoderma, Hypotrichosis, and Hyper IgE
    • Severe Dermatitis, Multiple Allergies, and Metabolic Wasting Syndrome
  • Erythroderma, Ichthyosiform, Congenital Reticular
  • Hypotrichosis 2
    • .
  • Hypotrichosis 6
  • Hypotrichosis And Recurrent Skin Vesicles
  • Ichthyosis Bullosa Of Siemens
    • Ichthyosis Exfoliativa, Included
    • Ichthyosis, Bullous Type
  • Ichthyosis Hystrix, Curth-Macklin Type
  • Ichthyosis Prematurity Syndrome
    • Ichthyosis Congenita Iv
  • Ichthyosis Vulgaris
    • Ichthyosis Simplex
  • Ichthyosis, Congenital, Autosomal Recessive 1
    • Collodion Baby, Self-Healing
    • Collodion Fetus
    • Desquamation Of Newborn
    • Ichthyosis Congenita
    • Ichthyosis Congenita II
    • Ichthyosis, Congenital, Autosomal Recessive 1, With Bathing Suit Distribution
    • Ichthyosis, Lamellar, 1
    • Lamellar Exfoliation Of Newborn
  • Ichthyosis, Congenital, Autosomal Recessive 10
    • 0
  • Ichthyosis, Congenital, Autosomal Recessive 11
  • Ichthyosis, Congenital, Autosomal Recessive 2
    • Collodion Baby, Self-Healing
    • Ichthyosiform Erythroderma, BROCQ Congenital, Nonbullous Form
    • Ichthyosiform Erythroderma, Nonbullous Congenital, 1
  • Ichthyosis, Congenital, Autosomal Recessive 3
    • Collodion Baby, Self-Healing
    • Ichthyosis, Lamellar, 5, Formerly; LI5, Formerly
  • Ichthyosis, Congenital, Autosomal Recessive 4a
  • Ichthyosis, Congenital, Autosomal Recessive 4b
  • Ichthyosis, Congenital, Autosomal Recessive 5
    • Ichthyosis Congenita III
    • Ichthyosis, Lamellar, 3, Formerly; LI3, Formerly
    • Ichthyosis, Nonlamellar And Nonerythrodermic, Congenital, Autosomal Recessive
  • Ichthyosis, Congenital, Autosomal Recessive 6
    • Ichthyosis, Congenital, Autosomal Recessive, NIPAL4-Related
  • Ichthyosis, Congenital, Autosomal Recessive 8
    • Ichthyosis, Lamellar, 4, Formerly
    • Lamellar Ichthyosis, Late-Onset
  • Ichthyosis, Congenital, Autosomal Recessive 9
  • Ichthyosis, Cyclic, With Epidermolytic Hyperkeratosis
  • Ichthyosis, Hystrix-Like, With Deafness
    • HID Syndrome
    • Hystrix-like Ichthyosis With Deafness
  • Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
  • Ichthyosis, Spastic Quadriplegia, And Mental Retardation
  • Ichthyosis, X-Linked
    • Arsc, S Form, Included
    • Arylsulfatase C, Isozyme S, Included
    • Placental Steroid Sulfatase Deficiency
    • Steroid Sulfatase Deficiency
    • Steroid Sulfatase Deficiency Disease
  • IFAP Syndrome With Or Without BRESHECK Syndrome
    • Ichthyosis Follicularis, Atrichia, And Photophobia With Or Without Brain Anomalies, Retardation, Ectodermal Dysplasia, Skeletal Malformations, Hirschsprung Disease, Ear/Eye Anomalies, Cleft Palate/Cryptorchidism, And Kidney Dysplasia/Hypoplasia
  • Inflammatory Skin And Bowel Disease, Neonatal, 1
  • Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant
    • KID Syndrome, Autosomal Dominant
  • Keratoderma, Palmoplantar, With Deafness
    • 0
  • Keratosis Follicularis Spinulosa Decalvans, X-Linked
  • Keratosis Palmoplantaris Striata II
    • Keratoderma, Palmoplantar, Striate Form II
    • Striate Palmoplantar Keratoderma II
  • Keratosis Palmoplantaris Striata III
    • .
  • Knuckle Pads, Leukonychia, And Sensorineural Deafness
    • Bart-Pumphrey syndrome
  • Mal De Meleda
    • .
  • Mend Syndrome
  • Mental Retardation, Enteropathy, Deafness, Peripheral Neuropathy, Ichthyosis, And Keratoderma
  • Naxos Disease
    • Cardiomyopathy, Arrhythmogenic Right Ventricular, With Skin, Hair, And Nail Abnormalities
    • Keratosis Palmoplantaris With Arrhythmogenic Cardiomyopathy
    • Mal De Naxos
    • Palmoplantar Keratoderma With Arrhythmogenic Right Ventricular Cardiomyopathy And Woolly Hair
    • Woolly Hair, Palmoplantar Keratoderma, And Cardiac Abnormalities
  • Netherton Syndrome
    • ERYTHRODERMA, ICHTHYOSIFORM, WITH HYPOTRICHOSIS AND HYPER-IgE|NS|NETHERTON DISEASE|COMEL-NETHERTON SYNDROME
  • Palmoplantar Keratoderma And Woolly Hair
  • Palmoplantar Keratoderma I, Striate, Focal, Or Diffuse
  • Palmoplantar Keratoderma, Bothnian Type
    • .
  • Palmoplantar Keratoderma, Epidermolytic
    • Hyperkeratosis, Localized Epidermolytic
    • Keratoderma, Epidermolytic Palmoplantar
    • Keratosis Of Greither
    • Keratosis Palmaris Et Plantaris Familiaris
    • Palmoplantar Keratoderma, Epidermolytic, With Knuckle Pads, Included
    • Palmoplantar Keratoderma, Vorner Type
    • Tylosis
    • Unilateral Palmoplantar Verrucous Nevus, Included
    • Unna-Thost Disease, Epidermolytic
  • Palmoplantar Keratoderma, Mutilating, With Periorificial Keratotic Plaques
    • Olmsted Syndrome
  • Palmoplantar Keratoderma, Mutilating, With Periorificial Keratotic Plaques, X-Linked
  • Palmoplantar Keratoderma, Nonepidermolytic
  • Palmoplantar Keratoderma, Nonepidermolytic, Focal Or Diffuse
  • Palmoplantar Keratoderma, Punctate Type Ia
  • Papillon-Lefevre Syndrome
    • Pls|Keratosis Palmoplantaris With Periodontopathia
  • Peeling Skin Syndrome 1
  • Peeling Skin Syndrome 4
    • Ichthyosis Bullosa Of Siemens-Like
    • Ichthyosis, Exfoliative, Autosomal Recessive
  • Peroxisome Biogenesis Disorder 9b
    • Peroxisome Biogenesis Disorder, PEX7-Related, Atypical
    • Refsum Disease, Adult, 2
  • Refsum Disease, Classic
    • Hereditary Motor And Sensory Neuropathy IV
    • Heredopathia Atactica Polyneuritiformis
    • Phytanic Acid Oxidase Deficiency
    • Refsum Disease, Adult, 1
  • Sjogren-Larsson Syndrome
    • Faldh Deficiency
    • Fatty Alcohol:Nad+ Oxidoreductase Deficiency
    • Fatty Aldehyde Dehydrogenase Deficiency
    • Ichthyosis, Spastic Neurologic Disorder, And Oligophrenia
  • Tylosis With Esophageal Cancer
    • Keratosis Palmaris Et Plantaris With Esophageal Cancer
    • Palmoplantar Keratoderma With Esophageal Cancer
  • Vohwinkel Syndrome, Variant Form
  • abhydrolase domain containing 5
    • CGI-58
    • NCIE2
  • ADAM metallopeptidase domain 17
    • tumor necrosis factor, alpha, converting enzyme
  • adaptor related protein complex 1 sigma 1 subunit
    • AP19
    • SIGMA1A
    • WUGSC:H_DJ0747G18.2
  • aldehyde dehydrogenase 3 family, member A2
    • FALDH
  • alpha and gamma adaptin binding protein
  • aquaporin 5
    • 0
  • arachidonate 12-lipoxygenase, 12R type
  • arachidonate lipoxygenase 3
  • arylsulfatase E (chondrodysplasia punctata 1)
  • ATP-binding cassette, sub-family A, member 12
    • ATP-binding cassette, sub-family A (ABC1), member 12
    • ichthyosis congenita II, lamellar ichthyosis B
  • cathepsin C
    • DPP1
  • ceramide synthase 3
    • MGC27091
  • claudin 1
    • ILVASC
    • SEMP1
  • corneodesmosin
    • D6S586E
  • cystatin A
    • 0
  • cytochrome P450, family 4, subfamily F, member 22
    • cytochrome P450, family 4, subfamily F, polypeptide 22
    • cytochrome P450, subfamily IVF, polypeptide 22
  • desmocollin 2
    • desmocollin 3, formerly
    • desmosomal glycoprotein II/III
  • desmocollin 3
    • CDHF3
    • DSC
    • DSC1
    • DSC2
  • desmoglein 1
    • CDHF4
  • desmoglein 4
    • CDHF13
    • LAH
  • desmoplakin
    • desmoplakin I
    • desmoplakin II
  • ELOVL fatty acid elongase 4
    • elongation of very long chain fatty acids (FEN1/Elo2, SUR4/Elo3, yeast)-like 4
    • elongation of very long chain fatty acids-like 4
  • emopamil binding protein (sterol isomerase)
    • 3-@beta-hydroxysteroid-delta-8,delta-7 isomerase
    • emopamil-binding protein
  • filaggrin
  • gap junction protein, beta 2
    • connexin 26
    • gap junction protein, 26-kd
    • gap junction protein, beta 2, 26kDa
    • gap junction protein, beta 2, 26kda (connexin 26)
    • gap junction protein, beta-2
  • junction plakoglobin
    • catenin (cadherin-associated protein), gamma 80kDa
    • catenin, gamma
    • desmoplakin III
    • plakoglobin
  • keratin 1
    • cytokeratin 1
    • epidermolytic hyperkeratosis
    • keratin 1
  • keratin 10
    • (epidermolytic hyperkeratosis
    • cytokeratin 10
    • keratin 10
    • keratosis palmaris et plantaris
  • keratin 2
    • keratin 2a
    • keratin 2a (epidermal ichthyosis bullosa of siemens)
    • keratin 2e
  • keratin 6C
    • 0
  • keratin 9
    • epidermolytic palmoplantar keratoderma
    • keratin 9
  • KN motif and ankyrin repeat domains 2
    • KIAA1518
  • lipase family member N
    • bA186O14.3
  • loricrin
    • 0
  • membrane bound transcription factor peptidase, site 2
    • keratosis follicularis spinulosa decalvans
    • membrane-bound transcription factor protease, site 2
  • NIPA-like domain containing 4
    • NIPA-like 4
  • patatin-like phospholipase domain containing 1
    • dJ50J22.1
    • FLJ38755
  • peroxisomal biogenesis factor 7
    • peroxin 7
    • peroxisomal pts2 receptor
    • peroxisome biogenesis factor 7
  • phytanoyl-CoA 2-hydroxylase
    • phytanoyl-CoA hydroxylase
    • phytanoyl-CoA hydroxylase (Refsum disease)
  • plakophilin 1
    • plakophilin 1 (ectodermal dysplasia/skin fragility syndrome)
  • rhomboid 5 homolog 2
    • rhomboid 5 homolog 2 (Drosophila)
    • rhomboid, veinlet-like 6 (Drosophila)
    • tylosis with oesophageal cancer
  • SAM and SH3 domain containing 1
    • dJ323M4.1
    • KIAA0790
    • SH3D6A
  • secreted LY6/PLAUR domain containing 1
    • ANUP
    • ARS
    • ArsB
    • LY6LS
    • MDM
  • serine peptidase inhibitor, Kazal type 5
    • serine protease inhibitor, Kazal type 5
  • solute carrier family 27 member 4
    • ACSVL4
    • FATP4
  • steroid sulfatase
    • ARSC, S form, included
    • arylsulfatase C, isozyme S, included
    • ichthyosis, X-linked
    • placental steroid sulfatase deficiency
    • steroid sulfatase (microsomal), arylsulfatase C, isozyme S
    • steroid sulfatase (microsomal), isozyme S
    • steroid sulfatase deficiency
    • steroid sulfatase deficiency disease
  • suppression of tumorigenicity 14
    • HAI
    • MT-SP1
    • SNC19
    • TMPRSS14
  • synaptosome associated protein 29
    • CEDNIK
    • SNAP-29
  • transglutaminase 1
    • transglutaminase 1 (K polypeptide epidermal type I, protein-glutamine-gamma-glutamyltransferase)
  • transient receptor potential cation channel, subfamily V, member 3
    • VRL3
  • VPS33B, late endosome and lysosome associated
    • vacuolar protein sorting 33 homolog B (yeast)
Dermatology 265 Gene Exome Panel (consisting of 8 tests)

London North East RGC GOSH - 2017

  • Cerebrooculofacioskeletal Syndrome 1
    • COFS Syndrome
    • Pena-Shokeir Syndrome, Type II
  • Cerebrooculofacioskeletal Syndrome 2
  • Cerebrooculofacioskeletal Syndrome 3
  • Dyskeratosis Congenita, X-Linked
    • Zinsser-Cole-Engman Syndrome
  • Ehlers-Danlos Syndrome With Short Stature And Limb Anomalies
    • Dermatan Sulfate Proteoglycan
    • Ehlers-Danlos Syndrome, Progeroid Type, 1
    • Galactosyltransferase I Deficiency
    • PDS, Defective Biosynthesis Of
    • Proteodermatan Sulfate, Defective Biosynthesis Of
    • XGPT Deficiency
    • Xylosylprotein 4-Beta-Galactosyltransferase Deficiency
  • Ehlers-Danlos Syndrome, Progeroid Type, 2
  • Hutchinson-Gilford Progeria Syndrome
    • Myopathy, Early-Onset, With Progeroid Features, Included
    • Progeria
  • Nestor-Guillermo Progeria Syndrome
    • Progeria Syndrome, Childhood-Onset, With Osteolysis
  • Restrictive Dermopathy, Lethal
    • Fetal Hypokinesia Sequence Due To Restrictive Dermopathy
    • Hyperkeratosis-Contracture Syndrome
    • Tight Skin Contracture Syndrome, Lethal
  • Rothmund-Thomson Syndrome
    • Poikiloderma Atrophicans And Cataract
  • XFE Progeroid Syndrome
    • XPF-ERCC1 Progeroid Syndrome
  • barrier to autointegration factor 1
    • BAF
  • beta-1,3-galactosyltransferase 6
  • beta-1,4-galactosyltransferase 7
    • xylosylprotein beta 1,4-galactosyltransferase, polypeptide 7
  • dyskerin pseudouridine synthase 1
    • dyskeratosis congenita 1, dyskerin
    • dyskerin
    • NOPP140-associated protein, 57-KD
  • ERCC excision repair 2, TFIIH core complex helicase subunit
    • DNA repair defect EM9 of chinese hamster ovary cells, complementation of
    • excision repair cross-complementing rodent repair deficiency, complementation group 2
    • excision-repair, complementing defective, in chinese hamster, 2
    • xeroderma pigmentosum complementary group D
    • XPD gene
  • ERCC excision repair 4, endonuclease catalytic subunit
    • excision repair cross-complementing rodent repair deficiency, complementation group 4
    • excision-repair, complementing defective, in chinese hamster
  • ERCC excision repair 5, endonuclease
    • excision repair cross-complementing rodent repair deficiency, complementation group 5
    • RAD2, yeast, homolog of
    • uv damage, excision repair of, UV-135
    • xeroderma pigmentosum, complementation group G
    • xeroderma pigmentosum, group g correcting protein
    • XPG gene
  • ERCC excision repair 6, chromatin remodeling factor
    • excision repair cross-complementing rodent repair deficiency, complementation group 6
  • lamin A/C
    • lamin A
    • lamin C
    • prelamin A
  • RecQ-like helicase 4
    • DNA helicase, RECQ-like, type 4
    • RecQ protein-like 4
Dermatology 265 Gene Exome Panel (consisting of 8 tests)

London North East RGC GOSH - 2017

  • Albinism, Oculocutaneous, Type Ia
    • Albinism I
    • Oculocutaneous Albinism, Type I
    • Oculocutaneous Albinism, Tyrosinase-Negative
  • Albinism, Oculocutaneous, Type Ib
  • Albinism, Oculocutaneous, Type II
  • Albinism, Oculocutaneous, Type III
    • Albinism III
    • Oculocutaneous Albinism, Type III
    • Rufous Oculocutaneous Albinism
    • Xanthism
  • Albinism, Oculocutaneous, Type IV
  • Albinism, Oculocutaneous, Type VI
  • Amyloidosis, Primary Localized Cutaneous, 1
  • Bannayan-Riley-Ruvalcaba Syndrome
    • Bannayan-Zonana Syndrome
    • Macrocephaly, Multiple Lipomas, And Hemangiomata
    • Macrocephaly, Pseudopapilledema, And Multiple Hemangiomata
    • Riley-Smith Syndrome, Included
    • Ruvalcaba-Myhre-Smith Syndrome
  • Cardiofaciocutaneous Syndrome 1
    • CFC Syndrome
  • Cardiofaciocutaneous Syndrome 3
  • Cardiofaciocutaneous Syndrome 4
  • Carney Complex, Type 1
    • Carney Myxoma-Endocrine Complex
    • Carney Syndrome
    • Lamb Syndrome
    • Myxoma, Spotty Pigmentation, And Endocrine Overactivity
    • Name Syndrome
  • Chediak-Higashi Syndrome
  • Chondrodysplasia Punctata 1, X-Linked Recessive
    • Chondrodysplasia Punctata, Brachytelephalangic
    • Cpxr
  • Cole Disease
  • Costello Syndrome
    • Faciocutaneoskeletal Syndrome
    • Fcs Syndrome
  • Cowden Syndrome 1
    • Cerebellar Granule Cell Hypertrophy And Megalencephaly, Included
    • Cerebelloparenchymal Disorder VI, Included
    • Cowden Disease
    • Cowden Syndrome
    • Cowden-Like Syndrome, Included
    • Dysplastic Gangliocytoma Of The Cerebellum, Included
    • Lhermitte-Duclos Disease, Included
    • Multiple Hamartoma Syndrome
  • Dermatopathia Pigmentosa Reticularis
  • Dowling-Degos Disease 1
  • Dowling-Degos Disease 2
    • .
  • Dowling-Degos Disease 4
  • Dyschromatosis Symmetrica Hereditaria
    • Dyschromatosis Symmetrica Hereditaria 1
    • Reticulate Acropigmentation Of Dohi
    • Symmetric Dyschromatosis Of The Extremities
  • Dyschromatosis Universalis Hereditaria 3
  • Dyskeratosis Congenita, Autosomal Dominant, 1
    • Dyskeratosis Congenita, Scoggins Type
  • Dyskeratosis Congenita, Autosomal Dominant, 2
  • Dyskeratosis Congenita, Autosomal Dominant, 3
  • Dyskeratosis Congenita, Autosomal Recessive, 1
  • Dyskeratosis Congenita, Autosomal Recessive, 3
  • Dyskeratosis Congenita, X-Linked
    • Zinsser-Cole-Engman Syndrome
  • Epidermolysis Bullosa Simplex With Migratory Circinate Erythema
  • Epidermolysis Bullosa Simplex With Mottled Pigmentation
  • Erythrokeratodermia Variabilis Et Progressiva
    • Erythrokeratodermia Figurata, Congenital Familial, In Plaques
    • Erythrokeratodermia Variabilis
    • Erythrokeratodermia Variabilis With Erythema Gyratum Repens
    • Erythrokeratodermia, Progressive Symmetric
  • Fanconi Anemia, Complementation Group N
    • Fanconi Anaemia, Complementation Group N
  • Fanconi Anemia, Complementation Group P
    • Fanconi Anaemia, Complementation Group P
  • Focal Dermal Hypoplasia
    • Fodh|Goltz Syndrome
    • Goltz-Gorlin Syndrome
  • Griscelli Syndrome, Type 1
    • Griscelli Syndrome with Neurologic Impairment
    • Griscelli Syndrome, Cutaneous and Neurologic Type
    • Partial Albinism and Primary Neurologic Disease without Hemophagocytic Syndrome
  • Griscelli Syndrome, Type 2
    • Griscelli Syndrome With Hemophagocytic Syndrome
    • Paid Syndrome
    • Partial Albinism And Immunodeficiency Syndrome
  • Hermansky-Pudlak Syndrome 1
    • Albinism With Hemorrhagic Diathesis And Pigmented Reticuloendothelial Cells
  • Hermansky-Pudlak Syndrome 2
  • Histiocytosis-Lymphadenopathy Plus Syndrome
    • Histiocytosis And Lymphadenopathy With Or Without Cutaneous, Cardiac, And/Or Endocrine Features, Joint Contractures, And/Or Deafness|Hyperpigmentation, Cutaneous, With Hypertrichosis, Hepatosplenomegaly, Heart Anomalies, And Hypogonadism With Or Without H
  • Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive
  • Hypotrichosis-Lymphedema-Telangiectasia Syndrome
  • Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
  • Keratosis, Seborrheic
  • Legius Syndrome
    • Neurofibromatosis, Type 1-Like Syndrome
  • Leopard Syndrome 1
    • Lentiginosis, Cardiomyopathic
    • Multiple Lentigines Syndrome
  • Leopard Syndrome 2
  • Mast Cell Disease
  • McCune-Albright Syndrome
  • Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
    • Macrocephaly-Capillary Malformation
    • Macrocephaly-Cutis Marmorata Telangiectatica Congenita
    • Megalencephaly-Capillary Malformation Syndrome
    • Megalencephaly-Cutis Marmorata Telangiectatica Congenita
  • Melanocytic Nevus Syndrome, Congenital
  • Melanoma, Cutaneous Malignant, Susceptibility To, 3
  • Melanoma, Cutaneous Malignant, Susceptibility To, 5
  • Melanoma-Astrocytoma Syndrome
    • Melanoma And Neural System Tumor Syndrome
  • Melanosis, Neurocutaneous
  • Mismatch Repair Cancer Syndrome
    • Brain Tumor-Polyposis Syndrome 1
    • Btp1 Syndrome
    • Childhood Cancer Syndrome
    • Mismatch Repair Deficiency
    • Mmr Deficiency
    • Turcot Syndrome
  • Naegeli-Franceschetti-Jadassohn Syndrome
    • Naegeli Syndrome
    • NFJ Syndrome
  • Neurofibromatosis, Type I
    • Neurofibromatosis
    • Neurofibromatosis, Type I, With Glioma, Included
    • Neurofibromatosis, Type I, With Leukemia, Included
    • Neurofibromin, Included
    • Von Recklinghausen Disease
  • Neurofibromatosis, Type II
    • Acoustic Neurinoma, Bilateral
    • Acoustic Schwannomas, Bilateral
    • Bilateral Acoustic Neurofibromatosis
    • Neurofibromatosis, Central Type
  • Nevus, Epidermal
    • Nevus, Keratinocytic, Nonepidermolytic
    • Pigmented Moles
  • Noonan Syndrome 1
    • Female Pseudo-Turner Syndrome
    • Male Turner Syndrome
    • Noonan Syndrome
    • Pterygium Colli Syndrome, Included
    • Turner Phenotype With Normal Karyotype
  • Noonan Syndrome 3
  • Noonan Syndrome 4
  • Noonan Syndrome 5
  • Noonan Syndrome 6
  • Noonan Syndrome 8
  • Noonan Syndrome-Like Disorder With Loose Anagen Hair
    • Tosti Syndrome
  • Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia
    • CBL Mutation-Associated Syndrome
    • CBL Syndrome
  • Palmoplantar Keratoderma With Congenital Alopecia
    • Keratoderma-Hypotrichosis-Leukonychia
    • PPKCA, Stevanovic Type
    • Totalis Syndrome
  • Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, and Hirschsprung Disease
    • Waardenburg-Shah Syndrome, Neurologic Variant
  • Peutz-Jeghers Syndrome
    • Polyposis, Hamartomatous Intestinal
    • Polyps-And-Spots Syndrome
  • Piebald Trait
    • Piebaldism
  • Pigmented Nodular Adrenocortical Disease, Primary, 1
    • Adrenocortical Nodular Dysplasia, Primary
    • Cushing Syndrome, Adrenal, Due to PPNAD1
    • Pigmented Micronodular Adrenocortical Disease, Primary, 1
  • Poikiloderma With Neutropenia
    • Poikiloderma With Neutropenia, Clericuzio-Type
  • Reticulate Acropigmentation Of Kitamura
  • Revesz Syndrome
    • Dyskeratosis Congenita, Autosomal Dominant, 5
    • Exudative Retinopathy With Bone Marrow Failure
  • Rothmund-Thomson Syndrome
    • Poikiloderma Atrophicans And Cataract
  • Schimmelpenning-Feuerstein-Mims Syndrome
    • Epidermal Nevus Syndrome
    • Jadassohn Nevus Phakomatosis
    • Linear Sebaceous Nevus Syndrome
    • Nevus Sebaceus Of Jadassohn
    • Organoid Nevus Phakomatosis
    • Sebaceous Nevus Syndrome, Linear
    • SFM Syndrome
  • Sturge-Weber Syndrome
  • Terminal Osseous Dysplasia
    • ODPF Syndrome
    • Osseous Dysplasia, Digital, With Facial Pigmentary Defects And Multiple Frenula
    • Terminal Osseous Dysplasia And Pigmentary Defects
  • Tietz Albinism-Deafness Syndrome
    • Albinism-Deafness Of Tietz
    • Hypopigmentation/Deafness Of Tietz
    • Tietz Syndrome
  • Tuberous Sclerosis 1
    • Tuberose Sclerosis
    • Tuberous Sclerosis Complex
  • Tuberous Sclerosis 2
    • Tsc2 Angiomyolipomas, Renal, Modifier Of, Included
  • Tumor Predisposition Syndrome
  • Tumoral Calcinosis, Hyperphosphatemic, Familial
    • Calcinosis, Tumoral, With Hyperphosphatemia
    • Lipocalcinogranulomatosis
    • Morbus Teutschlaender
    • Teutschlaender Disease, Familial
    • Tumoral Calcinosis, Primary Hyperphosphatemic
  • Tumoral Calcinosis, Normophosphatemic, Familial
    • Calcinosis, Tumoral, With Normophosphatemia
  • Waardenburg Syndrome, Type 1
    • Waardenburg Syndrome With Dystopia Canthorum
  • Waardenburg Syndrome, Type 2A
    • Waardenburg Syndrome Without Dystopia Canthorum
    • Waardenburg Syndrome, Type IIA
  • Waardenburg Syndrome, Type 2D
    • Waardenburg Syndrome, Type IID
  • Waardenburg Syndrome, Type 2E
    • Hypogonadotropic Hypogonadism With Anosmia And Deafness, With Or Without Hypopigmentation
    • Waardenburg Syndrome, Type 2E, With Or Without Neurologic Involvement
    • Waardenburg Syndrome, Type IIE
    • WS2E, With Or Without Neurologic Involvement
  • Waardenburg Syndrome, Type 3
    • Klein-Waardenburg Syndrome
    • Waardenburg Syndrome With Upper Limb Anomalies
    • Waardenburg Syndrome, Type III
  • Waardenburg Syndrome, Type 4A
    • Shah-Waardenburg Syndrome
    • Waardenburg Syndrome With Hirschsprung Disease, Type 4A
    • Waardenburg Syndrome, Type IVA
    • Waardenburg-Shah Syndrome
  • Waardenburg Syndrome, Type 4B
    • Waardenburg Syndrome, Type 4B, With Hirschsprung Disease
    • Waardenburg Syndrome, Type IVB
  • Waardenburg Syndrome, Type 4C
    • Waardenburg Syndrome With Hirschsprung Disease, Type 4C
    • Waardenburg Syndrome, Type IVC
  • ADAM metallopeptidase domain 10
    • a disintegrin and metalloproteinase domain 10
    • CD156c
    • HsT18717
    • kuz
  • adaptor related protein complex 3, beta 1 subunit
    • ADTB3A
    • HPS2
  • adenosine deaminase, RNA-specific
    • interferon-induced protein 4
  • arylsulfatase E (chondrodysplasia punctata 1)
  • ATP-binding cassette, sub-family B, member 6 (Langereis blood group)
    • EST45597
    • MTABC3
    • umat
  • ATP-binding cassette, sub-family D, member 4
  • B-Raf proto-oncogene, serine/threonine kinase
    • oncogene BRAF
    • v-raf murine sarcoma viral oncogene homolog B
    • v-raf murine sarcoma viral oncogene homolog B1
  • BRCA1 associated protein 1
    • BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)
  • CBL proto-oncogene
    • Cas-Br-M (murine) ecotropic retroviral transforming sequence
    • casitas B-lineage lymphoma protooncogene
    • CBL proto-oncogene, E3 ubiquitin protein ligase
    • oncogene CBL
    • oncogene CBL2
  • cyclin-dependent kinase 4
    • cell division kinase 4
  • cyclin-dependent kinase inhibitor 2A
    • CDK4 inhibitor
    • cyclin-dependent kinase inhibitor 2A
    • cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4)
    • multiple tumor suppressor 1
  • dyskerin pseudouridine synthase 1
    • dyskeratosis congenita 1, dyskerin
    • dyskerin
    • NOPP140-associated protein, 57-KD
  • ectonucleotide pyrophosphatase/phosphodiesterase 1
    • alkaline phosphodiesterase i
    • ly41, mouse, homolog of
    • membrane component, chromosome 6, surface marker 1
    • nucleotide pyrophosphatase
    • phosphodiesterase i/nucleotide pyrophosphatase 1
    • plasma cell membrane glycoprotein pc-1
  • endothelin 3
  • endothelin receptor type B
    • ETB
  • fibroblast growth factor 23
  • filamin A
    • actin-binding protein 280
    • alpha (actin binding protein 280)
    • filamin 1
    • filamin A
    • filamin A alpha
    • filamin, alpha
  • G protein subunit alpha 11
    • FBH
    • FBH2
    • FHH2
    • guanine nucleotide binding protein (G protein), alpha 11 (Gq class)
  • G protein subunit alpha q
    • G-ALPHA-q
    • GAQ
  • gap junction protein, alpha 1
    • gap junction protein, alpha 1, 43kDa
    • gap junction protein, alpha 1, 43kDa (connexin 43)
    • gap junction protein, alpha-like
  • gap junction protein, beta 3
    • erythrokeratodermia variabilis
    • gap junction protein, beta 3, 31kD (connexin 31)
    • gap junction protein, beta 3, 31kDa
    • gap junction protein, beta 3, 31kDa (connexin 31)
  • gap junction protein, beta 4
    • CX30.3
  • GNAS complex locus
    • 1
    • adenylate cyclase stimulatory protein, alpha subunit
    • GS, alpha subunit
    • guanine nucleotide-binding protein, alpha-stimulating activity polypeptide
    • neuroendocrine secretory protein 55, included
    • secretogranin VI
    • stimulatory g protein
    • XI-alpha-s, included
  • HPS1, biogenesis of lysosomal organelles complex 3, subunit 1
    • Hermansky-Pudlak syndrome
    • Hermansky-Pudlak syndrome 1
    • HPS1 gene
    • pale ear, mouse, homolog of
  • HRas proto-oncogene, GTPase
    • v-Ha-ras harvey rat sarcoma viral oncogene homolog
  • keratin 14
    • cytokeratin 14
    • keratin 14
    • keratin 14(epidermolysis bullosa simplex, dowling-meara, koebner)
  • keratin 5
    • epidermolysis bullosa simplex, dowling-meara/kobner/weber-cockayne types
    • keratin 5
  • KIT ligand
    • DFNA69
    • FPH2
    • Kitl
    • KL-1
    • SCF
    • SF
    • SLF
  • KIT proto-oncogene receptor tyrosine kinase
    • piebald trait
    • v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog
  • KRAS proto-oncogene, GTPase
    • kirsten murine sarcoma VIrus 2
    • kirsten ras1, included
    • oncogene kras1, included
    • oncogene kras2
    • v-Ki-ras1 pseudogene, included
    • v-Ki-ras2 kirsten rat sarcoma viral oncogene homolog
  • lysosomal trafficking regulator
    • Chediak-Higashi syndrome 1
  • mechanistic target of rapamycin kinase
    • mechanistic target of rapamycin
    • mechanistic target of rapamycin (serine/threonine kinase)
  • melanocortin 1 receptor
    • MSH-R
  • melanogenesis-associated transcription factor
    • bHLHe32
    • MI
    • microphthalmia-associated transcription factor
    • Waardenburg syndrome, type 2A
  • mitogen-activated protein kinase kinase 1
    • MAPK/ERK kinase 1
    • protein kinase, mitogen-activated, kinase 1
  • mitogen-activated protein kinase kinase 2
    • MAPK/ERK kinase 2
    • protein kinase, mitogen-activated, kinase 2
  • mutL homolog 1
    • colorectal cancer, hereditary nonpolyposis, type 2
    • mutL homolog 1, colon cancer, nonpolyposis type 2 (e. coli)
    • mutL homolog 1, colon cancer, nonpolyposis type 2 (e. coli)
    • mutL, e. coli, homolog of, 1, included
    • mutlL(e. coli) homolog 1 (colon cancer, nonpolyposis type 2)
  • mutS homolog 2
    • coca1
    • colon cancer, familial nonpolyposis, type 1
    • colorectal cancer, hereditary nonpolyposis, type 1
    • mutS (e. coli) homolog 2 (colon cancer, nonpolyposis type 1)
    • mutS homolog 2, colon cancer, nonpolyposis type 1 (e. coli)
    • mutS, e. coli, homolog of, 2, included
  • mutS homolog 6
    • colorectal cancer, hereditary nonpolyposis, type 5, included
    • G/T mismatch-binding protein
    • mutS homolog 6 (e. coli)
    • mutS, e. coli, homolog of, 6
  • myosin VA
    • GS1
    • MYO5
    • MYR12
  • neurofibromin 1
    • neurofibromatosis
    • neurofibromatosis, type i
    • neurofibromatosis, type i, with glioma, included
    • neurofibromatosis, type i, with leukemia, included
    • neurofibromin, included
    • von recklinghausen disease
  • neurofibromin 2
    • merlin
    • moesin-ezrin-radixin like
    • neurofibromin 2
    • neurofibromin 2 (bilateral acoustic neuroma)
    • neurofibromin 2 (merlin)
    • schwannomin
  • NOP10 ribonucleoprotein
    • NOP10 ribonucleoprotein homolog (yeast)
    • NOP10, s. cerevisiae, homolog of
    • nucleolar protein family A, member 3
    • nucleolar protein family A, member 3 (H/ACA small nucleolar RNPs)
  • NRAS proto-oncogene, GTPase
    • neuroblastoma RAS viral (v-ras) oncogene homolog
    • neuroblastoma RAS viral oncogene homolog
    • oncogene NRAS
  • OCA2 melanosomal transmembrane protein
    • BEY
    • BEY1
    • BEY2
    • EYCL
  • oncostatin M receptor
    • OSMRB
  • paired box 3
    • paired domain gene hup2
  • partner and localizer of BRCA2
    • fanconi anaemia, complementation group N
    • fanconi anemia, complementation group N
  • phosphatase and tensin homolog
    • mutated in multiple advanced cancers 1
    • phosphatase and tensin homolog
    • phosphatase and tensin homolog deleted on chromosome 10
  • phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha
    • p110-alpha
    • phosphatidylinositol 3-kinase, catalytic, 110-kD, alpha
    • phosphoinositide-3-kinase, catalytic, alpha polypeptide
    • PI3K-alpha
    • PIK3-alpha
  • PMS1 homolog 2, mismatch repair system component
    • PMS2 postmeiotic segregation increased 2 (S. cerevisiae)
  • polypeptide N-acetylgalactosaminyltransferase 3
    • GALNAC transferase 3
    • UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 3 (GALNAC-T3)
  • porcupine O-acyltransferase
    • MG61
    • por
    • PORC
    • porcupine homolog (Drosophila)
    • PPN
  • protein kinase cAMP-dependent type I regulatory subunit alpha
    • protein kinase cAMP-dependent, regulatory, type I, alpha
    • protein kinase, cAMP-dependent, regulatory, type I, alpha (tissue specific extinguisher 1)
    • tissue-specific extinguisher 1
  • protein O-fucosyltransferase 1
    • FUT12
    • KIAA0180
    • O-FUT, O-Fuc-T
  • protein O-glucosyltransferase 1
    • 9630046K23Rik
    • hCLP46
    • KDELCL1
    • MDS010
    • MDSRP
    • MGC32995
    • Rumi
  • protein tyrosine phosphatase, non-receptor type 11
    • noonan syndrome 1
    • protein-tyrosine phosphatase 2c
    • protein-tyrosine phosphatase, nonreceptor-type, 11
    • tyrosine phosphatase shp2
  • RAB27A, member RAS oncogene family
  • Raf-1 proto-oncogene, serine/threonine kinase
    • oncogene mil
    • oncogene raf1
    • transforming replication-defective murine retrovirus 3611-msv
    • v-raf-1 murine leukemia viral oncogene homolog 1
  • ras-like without CAAX 1
    • MGC125864
    • MGC125865
    • RIBB
    • ROC1
  • RecQ-like helicase 4
    • DNA helicase, RECQ-like, type 4
    • RecQ protein-like 4
  • SAM and SH3 domain containing 1
    • dJ323M4.1
    • KIAA0790
    • SH3D6A
  • serine/threonine kinase 11
    • serine/threonine kinase 11 (peutz-jeghers syndrome)
    • serine/threonine protein kinase 11
  • SHOC2, leucine-rich repeat scaffold protein
    • RAS-binding protein SUR8, c. elegans, homolog of
    • soc-2 (suppressor of clear, C.elegans) homolog
    • soc-2 suppressor of clear homolog (C. elegans)
  • SLX4 structure-specific endonuclease subunit
    • BTB (POZ) domain containing 12
    • BTB/POZ domain-containing protein 12
    • MUS312, drosophila, homolog of
    • SLX4 structure-specific endonuclease subunit homolog (S. cerevisiae)
    • structure-specific endonuclease subunit SLX4
  • snail family transcriptional repressor 2
    • slug homolog, zinc finger protein (chicken)
    • snail family zinc finger 2
    • snail homolog 2 (Drosophila)
  • solute carrier family 24 member 5
    • JSX
    • OCA6
  • solute carrier family 29 member 3
    • ENT3
    • FLJ11160
  • solute carrier family 45 member 2
    • AIM-1
    • OCA4
  • SOS Ras/Rac guanine nucleotide exchange factor 1
    • son of sevenless homolog 1 (drosophila)
  • sprouty-related, EVH1 domain containing 1
  • SRY-box 10
    • SRY (sex determining region Y)-box 10
  • SRY-box 18
    • 0
  • sterile alpha motif domain containing 9
  • telomerase reverse transcriptase
    • telomerase catalytic subunit
  • telomerase RNA component
    • telomerase RNA candidate 3
  • TERF1 interacting nuclear factor 2
    • TERF1 (TRF1)-interacting nuclear factor 2
    • TRF1-interacting nuclear factor 2
  • TSC complex subunit 1
    • hamartin
    • tsc1 gene
    • tuberous sclerosis 1
  • TSC complex subunit 2
    • TSC2 gene
    • TSC4 gene, formerly
    • tuberin
    • tuberous sclerosis 2
  • tyrosinase
    • OCA1
    • OCA1A
    • OCAIA
  • tyrosinase related protein 1
    • b-PROTEIN
    • CATB
    • GP75
    • OCA3
    • TRP
  • U6 snRNA biogenesis phosphodiesterase 1
    • FLJ13154
    • HVSL1
    • Mpn1
  • WD repeat containing, antisense to TP53
    • WD repeat domain 79

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