Gene Dossiers

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Gene dossier Disorders Genes
NBAS Related Disorder

Sheffield RGC - 2017

  • Infantile Liver Failure Syndrome 2
    • .
  • Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly
    • .
  • neuroblastoma amplified sequence
    • .
Nephrotic Syndromes including Focal Segmental Glomerulosis 16 Gene Panel

Bristol RGC - 2013

  • Alport Syndrome, Autosomal Dominant
  • Alport Syndrome, Autosomal Recessive
  • Alport Syndrome, X-Linked
    • Alport Syndrome-Like Hereditary Nephritis, Included
    • Nephropathy And Deafness
  • Alstrom Syndrome
    • Alss
  • Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps
  • Arthrogryposis, Renal Dysfunction, And Cholestasis 1
    • Arc Syndrome
    • Arthrogryposis, Renal Dysfunction, And Cholestasis
  • Arthrogryposis, Renal Dysfunction, And Cholestasis 2
  • Autosomal Recessive Steroid-Resistant Nephrotic Syndrome
  • Coenzyme Q10 Deficiency, Primary, 1
    • Coenzyme Q Deficiency 1
    • CoQ Deficiency 1
    • CoQ10 Deficiency, Primary, 1
    • Ubiquinone Deficiency 1
  • Coenzyme Q10 Deficiency, Primary, 5
  • Coenzyme Q10 Deficiency, Primary, 6
  • Coenzyme Q10 Deficiency, Primary, 8
  • Complement Factor H Deficiency
  • Congenital Disorder Of Glycosylation, Type Ia
    • Carbohydrate-Deficient Glycoprotein Syndrome, Type Ia, Formerly
    • Jaeken Syndrome
    • Phosphomannomutase 2 Deficiency
  • Congenital Disorder of Glycosylation, Type Ik
    • 0
  • Corticosterone Methyloxidase Type I Deficiency
    • 18-@hydroxylase Deficiency
    • Aldosterone Deficiency Due To Defect In Steroid 18-Hydroxylase
    • Aldosterone Deficiency I
    • Cmo I Deficiency
    • Hyperreninemic Hypoaldosteronism, Familial, 1
    • Steroid 18-@hydroxylase Deficiency
  • Corticosterone Methyloxidase Type II Deficiency
    • 18-@oxidase Deficiency
    • Aldosterone Deficiency Due To Deficiency Of Steroid 18-Oxidase
    • Aldosterone Deficiency II
    • Cmo II Deficiency
    • Steroid 18-Oxidase Deficiency
  • Dent Disease 2
  • Denys-Drash Syndrome
    • Drash Syndrome
    • Nephropathy, Wilms Tumor, And Genital Anomalies
    • Wilms Tumor And Pseudo- Or True Hermaphroditism
  • Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
  • Epstein Syndrome
    • Macrothrombocytopenia, Nephritis, And Deafness
  • Familial Mediterranean Fever, Autosomal Dominant
    • Fmf, Autosomal Dominant
  • Fechtner Syndrome
    • Alport Syndrome With Macrothrombocytopenia
    • Macrothrombocytopenia, Nephritis, Deafness, And Leukocyte Inclusions
  • Focal Segmental Glomerulosclerosis 1
    • Glomerulosclerosis, Focal Segmental, 1
  • Focal Segmental Glomerulosclerosis 2
    • Glomerulosclerosis, Focal Segmental, 2
  • Focal Segmental Glomerulosclerosis 3, Susceptibility To
    • Glomerulosclerosis, Focal Segmental, 3, Susceptibility To
  • Focal Segmental Glomerulosclerosis 4, Susceptibility To
    • End-Stage Renal Disease, Nondiabetic, Susceptibility To, Included
  • Focal Segmental Glomerulosclerosis 5
    • Glomerulosclerosis, Focal Segmental, 5
  • Focal Segmental Glomerulosclerosis 6
    • Glomerulosclerosis, Focal Segmental, 6
  • Focal Segmental Glomerulosclerosis 7
    • Glomerulosclerosis, Focal Segmental, 7
  • Focal Segmental Glomerulosclerosis 8;
  • Focal Segmental Glomerulosclerosis 9
    • Glomerulosclerosis, Focal Segmental, 9
  • Frasier Syndrome
  • Galloway-Mowat Syndrome 1
    • Cerebellar Ataxia With Mental Retardation, Optic Atrophy, And Skin Abnormalities
    • Galloway Syndrome
    • Microcephaly, Hiatal Hernia, And Nephrotic Syndrome
    • Nephrosis-Microcephaly Syndrome
    • Nephrosis-Neuronal Dysmigration Syndrome
    • Spinocerebellar Ataxia, Autosomal Recessive 5, Formerly; SCAR5, Formerly
  • Hematuria, Benign Familial
    • Thin Membrane Nephropathy
    • Thin-Basement-Membrane Nephropathy
  • Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
    • Ahus, Susceptibility To, 1
  • Interstitial Lung Disease, Nephrotic Syndrome, And Epidermolysis Bullosa, Congenital
  • Lowe Oculocerebrorenal Syndrome
    • Lowe Syndrome
    • OCRL1
    • Phosphatidylinositol 4,5-Bisphosphate 5-Phosphatase, Deficiency Of
  • Mandibuloacral Dysplasia With Type B Lipodystrophy
    • Lipodystrophy, Type B, Associated With Mandibuloacral Dysplasia
  • Medullary Cystic Kidney Disease 1
  • Megaloblastic Anemia 1
  • Nail-Patella Syndrome
    • Fong Disease
    • Nps1
    • Onychoosteodysplasia
    • Turner-Kieser Syndrome
  • Nephronophthisis 12
  • Nephronophthisis 16
  • Nephropathy With Pretibial Epidermolysis Bullosa And Deafness
  • Nephrotic Syndrome 15
  • Nephrotic Syndrome 16
  • Nephrotic Syndrome, Type 1
    • Finnish Congenital Nephrosis
    • Nephrotic Syndrome, Congenital
  • Nephrotic Syndrome, Type 11
  • Nephrotic Syndrome, Type 12
  • Nephrotic Syndrome, Type 13
  • Nephrotic Syndrome, Type 2
    • Nephrotic Syndrome, Idiopathic
    • Nephrotic Syndrome, Idiopathic, Included
    • Nephrotic Syndrome, Steroid-Resistant, Autosomal Recessive
  • Nephrotic Syndrome, Type 3
    • Nephrotic Syndrome, Early-Onset, Type 3
  • Nephrotic Syndrome, Type 4
  • Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities
  • Nephrotic Syndrome, Type 6
  • Nephrotic Syndrome, Type 7
  • Nephrotic Syndrome, Type 8
  • Nephrotic Syndrome, Type 9
  • Papillorenal Syndrome
    • Cakut With Or Without Ocular Abnormalities
    • Coloboma Of Optic Nerve With Renal Disease
    • Congenital Anomalies Of The Kidney And Urinary Tract With Or Without Ocular Abnormalities
    • Optic Coloboma, Vesicoureteral Reflux, And Renal Anomalies
    • Optic Nerve Coloboma With Renal Disease
    • Renal-Coloboma Syndrome
    • Renal-Coloboma Syndrome With Macular Abnormalities
  • Pierson Syndrome
  • Schimke Immunoosseous Dysplasia
    • Immunoosseous Dysplasia, Schimke Type
  • Senior-Loken Syndrome 4
  • Ventriculomegaly With Cystic Kidney Disease;
  • Wilms Tumor 1
    • Nephroblastoma
  • actinin, alpha 4
    • actinin-4
    • focal segmental glomerulosclerosis 1
  • ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase
    • ALG1, YEAST, HOMOLOG OF; ALG1
    • HMT-1, HMAT1
  • ALMS1, centrosome and basal body associated protein
    • ALMS1 gene
    • Alstrom syndrome 1
  • anillin actin binding protein
    • "anillin (Drosophila Scraps homolog), actin binding protein", "anillin, actin binding protein (scraps homolog, Drosophila)"
  • ankyrin repeat and sterile alpha motif domain containing 6
  • apolipoprotein L1
    • apolipoprotein L, 1
    • apolipoprotein L-I
  • CD151 molecule (Raph blood group)
    • PETA-3
    • RAPH
    • SFA-1
    • TSPAN24
  • CD2-associated protein
    • CAS ligand with multiple SH3 domains
  • coenzyme Q2, polyprenyltransferase
    • coenzyme Q2 4-hydroxybenzoate polyprenyltransferase
    • parahydroxybenzoate-polyprenyltransferase, mitochondrial
  • coenzyme Q6, monooxygenase
    • coenzyme Q10 monooxygenase 6
    • coenzyme Q6 homolog (yeast)
    • coenzyme Q6 homolog, monooxygenase (S. cerevisiae)
    • coenzyme Q6 homolog, monooxygenase (yeast)
  • coenzyme Q7, hydroxylase
    • "coenzyme Q, 7 (rat, yeast) homolog", "coenzyme Q7 homolog, ubiquinone (yeast)"
  • coenzyme Q8B
    • aarF domain containing kinase 4"
  • coenzyme Q9
    • DKFZP434K046
  • collagen, type IV, alpha 1 chain
    • collagen of basement membrane, alpha-1 chain
    • collagen, type IV, alpha 1
  • collagen, type IV, alpha 3 chain
    • collagen of basement membrane, alpha-3 chain
    • collagen, type IV, alpha 3 (goodpasture antigen)
    • tumstatin
  • collagen, type IV, alpha 4 chain
    • collagen of basement membrane, alpha-4 chain
    • collagen, type IV, alpha 4
  • collagen, type IV, alpha 5 chain
    • alport syndrome
    • collagen of basement membrane, alpha-5 chain
    • collagen, type IV, alpha 5
    • collagen, type IV, alpha-5
  • complement factor H
    • age-related maculopathy susceptibility 1
    • beta-1H
    • complement factor H
    • factor H
    • factor H and factor H-like 1, combined deficiency of, included
    • factor H-like 1, included
    • H factor 1
    • H factor 2 (complement)
  • crumbs 2, cell polarity complex component
    • "crumbs family member 2", "crumbs homolog 2 (Drosophila)"
  • cubilin
  • cytochrome P450, family 11, subfamily B, member 2
    • aldosterone deficiency due to deficiency of 18-hydroxysteroid dehydrogenase, included
    • aldosterone deficiency II, included
    • aldosterone synthase
    • CMO II deficiency, included
    • corticosterone methyl oxidase type II deficiency, included
    • cytochrome P450, family 11, subfamily B, polypeptide 2
    • cytochrome p450, subfamily XIB, polypeptide 2
    • hyperreninemic hypoaldosteronism, familial, 1, included
    • steroid 11-beta-hydroxylase
  • decaprenyl diphosphate synthase subunit 2
    • prenyl (decaprenyl) diphosphate synthase, subunit 2
  • diacylglycerol kinase epsilon
  • E2F transcription factor 3
  • epithelial membrane protein 2
  • exportin 5
  • FAT atypical cadherin 1
    • FAT, "FAT tumor suppressor (Drosophila) homolog", "FAT tumor suppressor homolog 1 (Drosophila)"
  • galactosidase, alpha
    • alpha-galactosidase a deficiency
  • integrin subunit alpha 3
  • integrin subunit beta 4
    • integrin, beta 4
  • inverted formin, FH2 and WH2 domain containing
    • chromosome 14 open reading frame 151
    • chromosome 14 open reading frame 173
    • formin, inverted, 2
    • inverted formin 2
  • KN motif and ankyrin repeat domains 1
    • KANK
    • KIAA0172
  • KN motif and ankyrin repeat domains 2
    • KIAA1518
  • KN motif and ankyrin repeat domains 4
    • ANKRD38, "ankyrin repeat domain 38"
  • lamin A/C
    • lamin A
    • lamin C
    • prelamin A
  • laminin subunit beta 2
    • laminin s
    • laminin, beta 2 (laminin S)
    • laminin, beta-2
  • LIM homeobox transcription factor 1, beta
  • mediator complex subunit 28
    • "mediator of RNA polymerase II transcription, subunit 28 homolog (S. cerevisiae)"
  • MEFV, pyrin innate immunity regulator
    • familial mediterranean fever gene
    • marenostrin
    • Mediterranean fever
    • pyrin
  • membrane associated guanylate kinase, WW and PDZ domain containing 2
    • atrophin 1-interacting protein 1
  • mucin 1, cell surface associated
  • myosin heavy chain 9
    • myosin, heavy chain 9, non-muscle
    • myosin, heavy polypeptide 9, non-muscle
  • myosin IE
    • myosin IC
  • nei like DNA glycosylase 1
  • nephrocystin 4
    • nephronophthisis 4
  • NPHS1, nephrin
    • nephrosis 1, congenital, Finnish type (nephrin)
    • renal glomerulus-specific cell adhesion receptor
  • NPHS2, podocin
    • nephrosis 2, idiopathic, steroid-resistant (podocin)
    • nephrosis 2, idiopathic, steroid-resistant podocin
  • nuclear RNA export factor 5
  • nucleoporin 107
    • nucleoporin 107kDa"
  • nucleoporin 205
    • C7orf14, "chromosome 7 open reading frame 14", "nucleoporin 205kDa"
  • nucleoporin 93
    • "nucleoporin 93kDa"
  • OCRL, inositol polyphosphate-5-phosphatase
    • Lowe oculocerebrorenal syndrome
    • Lowe syndrome
    • ocrl gene
    • oculocerebrorenal syndrome of Lowe
    • phosphatidylinositol 4,5-bisphosphate 5-phosphatase, deficiency of
  • paired box 2
  • phospholipase C, epsilon 1
  • phosphomannomutase 2
  • podocalyxin like
    • "podocalyxin-like"
  • protein tyrosine phosphatase, receptor type O
    • glomerular epithelial protein 1
    • protein tyrosine phosphatase PTP-U2
  • Rho GDP dissociation inhibitor alpha
    • GDIA1, "Rho GDP dissociation inhibitor (GDI) alpha"
  • Rho GTPase activating protein 24
    • filamin A-associated RHOGAP
    • RAC1- and CDC42-specific GTPase-activating protein, 72-kD
  • scavenger receptor class B member 2
  • SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily A-like 1
  • synaptopodin
  • tetratricopeptide repeat domain 21B
    • tetratricopeptide repeat domain-containing protein 21B
    • tetratricopeptide repeat-containing hedgehog modulator 1
  • transient receptor potential cation channel, subfamily C, member 6
    • transient receptor potential, drosophila, homolog of, 6
  • VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog
    • hSPE-39
    • SPE-39
    • SPE39
    • VIPAR
    • VPS16B
  • VPS33B, late endosome and lysosome associated
    • vacuolar protein sorting 33 homolog B (yeast)
  • WD repeat domain 73
  • Wilms tumor 1
    • wilms tumor 1 gene
  • zinc metallopeptidase STE24
Netherton Syndrome

London North East RGC GOSH - 2012

  • Netherton Syndrome
    • ERYTHRODERMA, ICHTHYOSIFORM, WITH HYPOTRICHOSIS AND HYPER-IgE|NS|NETHERTON DISEASE|COMEL-NETHERTON SYNDROME
  • serine peptidase inhibitor, Kazal type 5
    • serine protease inhibitor, Kazal type 5
Neuraminidase Deficiency

London South East RGC GSTT - 2014

  • Neuraminidase Deficiency
    • Glycoprotein Neuraminidase Deficiency
    • Lipomucopolysaccharidosis
    • ML I
    • Mucolipidosis I
    • NEU Deficiency
    • NEU1 Deficiency
    • NEUG Deficiency
    • Neuraminidase 1 Deficiency
    • Sialidase Deficiency
    • Sialidosis, Type II
  • sialidase 1 (lysosomal sialidase)
    • sialidase 1
    • sialidase, lysosomal
Neurodegeneration With Brain Iron Accumulation 1

Liverpool RGC - 2008

  • Neurodegeneration With Brain Iron Accumulation 1
    • Hallervorden-Spatz Disease
    • Pantothenate Kinase-Associated Neurodegeneration
    • Pkan Neuroaxonal Dystrophy, Juvenile-Onset
  • pantothenate kinase 2
    • neurodegeneration with brain iron accumulation 1 (hallervorden-spatz syndrome)
    • pantothenate kinase 2
Neurodegeneration With Brain Iron Accumulation 2A

Liverpool RGC - 2012

  • Neurodegeneration With Brain Iron Accumulation 2A
    • Neuroaxonal Dystrophy, Infantile
    • Neurodegeneration, PLA2G6-Associated
    • Seitelberger Disease
  • phospholipase A2, group VI
    • phospholipase A2, group VI (cytosolic, calcium-independent)
Neurodegeneration With Brain Iron Accumulation 2A

Birmingham RGC - 2012

  • Neurodegeneration With Brain Iron Accumulation 2A
    • Neuroaxonal Dystrophy, Infantile
    • Neurodegeneration, PLA2G6-Associated
    • Seitelberger Disease
  • phospholipase A2, group VI
    • phospholipase A2, group VI (cytosolic, calcium-independent)
Neurogenetic Disorders 96 Gene Panel (consisting of 5 tests)

Sheffield RGC - 2014

  • Allan-Herndon-Dudley Syndrome
    • Allan-Herndon Syndrome
    • Mental Retardation And Muscular Atrophy
    • Mental Retardation, X-Linked, With Hypotonia
    • Monocarboxylate Transporter 8 Deficiency
    • T3 Resistance
    • Triiodothyronine Resistance
  • Anaemia, Sideroblastic, And Spinocerebellar Ataxia
    • Anemia, Sideroblastic, And Spinocerebellar Ataxia
  • Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
    • Ataxia-Oculomotor Apraxia 1
    • Ataxia-Oculomotor Apraxia Syndrome
    • Ataxia-Telangiectasia-Like Syndrome
    • Cerebellar Ataxia, Early-Onset, With Hypoalbuminemia
  • 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
  • Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, And Sensorineural Hearing Loss
  • Cerebrotendinous Xanthomatosis
    • Cerebral Cholesterinosis
  • Dystonia 12
    • Dystonia-Parkinsonism, Rapid-Onset
  • Dystonia 9
    • Choreoathetosis, Kinesigenic, With Episodic Ataxia And Spasticity
    • Choreoathetosis/Spasticity, Episodic
    • CSE Choreoathetosis, Paroxysmal, With Episodic Ataxia
  • Episodic Ataxia, Type 1
    • Ataxia, Episodic, With Myokymia
    • Continuous Muscle Fiber Activity, Hereditary, Included
    • Episodic Ataxia With Myokymia
    • Isaacs-Mertens Syndrome, Included
    • Myokymia With Periodic Ataxia
    • Myokymia, Included
    • Paroxysmal Ataxia With Neuromyotonia, Hereditary
  • Episodic Ataxia, Type 2
    • Acetazolamide-Responsive Hereditary Paroxysmal Cerebellar Ataxia
    • Apca
    • Ataxia, Episodic, With Nystagmus
    • Ataxia, Familial Paroxysmal
    • Cacna1a-Related Episodic Ataxia Type 2
    • Cerebellar Ataxia, Paroxysmal, Acetazolamide-Responsive
    • Cerebellopathy, Hereditary Paroxysmal
    • Episodic Ataxia, Nystagmus-Associated
  • Episodic Ataxia, Type 5
  • Episodic Ataxia, Type 6
  • Episodic Kinesigenic Dyskinesia 1
    • Dystonia 10
    • Dystonia, Familial Paroxysmal
    • Paroxysmal Kinesigenic Choreoathetosis
    • Paroxysmal Kinesigenic Dyskinesia
  • Friedreich Ataxia 1
    • Fa
    • Frda1
    • Friedreich Ataxia With Retained Reflexes, Included
  • Gaucher Disease, Type I
    • Acid Beta-Glucosidase Deficiency
    • Gaucher Disease, Noncerebral Juvenile
    • Gba Deficiency
    • Gd I
    • Glucocerebrosidase Deficiency
  • Migraine, Familial Hemiplegic, 1
    • Familial Hemiplegic Migraine
    • Familial Hemiplegic Migraine With Progressive Cerebellar Ataxia
    • Migraine, Familial Hemiplegic 1, With Progressive Cerebellar Ataxia, Included
    • Migraine, Sporadic Hemiplegic, Included
    • Sporadic Hemiplegic Migraine
  • Mitochondrial DNA Depletion Syndrome 7 (Hepatocerebral Type);
    • OHAHA Syndrome
    • Ophthalmoplegia, Hypotonia, Ataxia, Hypacusis, And Athetosis
    • Spinocerebellar Ataxia 8
    • Spinocerebellar Ataxia, Infantile, With Sensory Neuropathy
    • Spinocerebellar Ataxia, Infantile-Onset
  • Neurodegeneration With Brain Iron Accumulation 3
    • Basal Ganglia Disease, Adult-Onset
    • Neuroferritinopathy
  • Parkinson Disease, Late-Onset
    • Parkinson Disease
  • Spastic Ataxia 1, Autosomal Dominant
  • Spastic Ataxia 4, Autosomal Recessive
  • Spastic Ataxia 5, Autosomal Recessive
  • Spastic Ataxia, Charlevoix-Saguenay Type
    • Autosomal Recessive Spastic Ataxia Of Charlevoix-Saguenay
    • Charlevoix-Saguenay Spastic Ataxia
    • Spastic Ataxia 6, Autosomal Recessive
  • Spastic Paraplegia 46, Autosomal Recessive
  • Spastic Paraplegia 7, Autosomal Recessive
  • Spinocerebellar Ataxia 11
  • Spinocerebellar Ataxia 13
  • Spinocerebellar Ataxia 14
  • Spinocerebellar Ataxia 15
  • Spinocerebellar Ataxia 18
    • Sensorimotor Neuropathy With Ataxia, Autosomal Dominant
  • Spinocerebellar Ataxia 19
    • Spinocerebellar Ataxia 22
  • Spinocerebellar Ataxia 23
  • Spinocerebellar Ataxia 26
  • Spinocerebellar Ataxia 27
    • Cerebellar Ataxia, Autosomal Dominant, FGF14-Related
  • Spinocerebellar Ataxia 28
  • Spinocerebellar Ataxia 29
    • Aplasia Of Cerebellar Vermis
    • Cerebellar Ataxia, Congenital Nonprogressive, Autosomal Dominant
    • Cerebellar Vermis Aplasia
  • Spinocerebellar Ataxia 35
  • Spinocerebellar Ataxia 5
  • Spinocerebellar Ataxia, Autosomal Recessive 1
    • Ataxia-Ocular Apraxia 2
    • Ataxia-Oculomotor Apraxia 2
  • Spinocerebellar Ataxia, Autosomal Recessive 14
    • Cerebellar Ataxia, Autosomal Recessive, Spectrin-Associated, 1
  • Vitamin E, Familial Isolated Deficiency Of
    • Ataxia, Friedreich-Like, With Selective Vitamin E Deficiency
    • Friedreich-Like Ataxia
  • Wilson Disease
    • Hepatolenticular Degeneration
    • Wnd
  • AFG3 like matrix AAA peptidase subunit 2
    • AFG3 (ATPase family gene 3, yeast)-like 2
    • AFG3 ATPase family gene 3-like 2 (S. cerevisiae)
    • AFG3 ATPase family gene 3-like 2 (yeast)
    • AFG3 ATPase family member 3-like 2 (S. cerevisiae)
    • AFG3-like AAA ATPase 2
    • spinocerebellar ataxia 28
  • alpha tocopherol transfer protein
    • ataxia (Friedreich-like) with vitamin E deficiency
    • tocopherol (alpha) transfer protein
  • aprataxin
    • ataxia 1, early onset with hypoalbuminemia
  • ATM serine/threonine kinase
    • ataxia telangiectasia mutated
    • tel1, telomere maintenance 1, homolog (s. cerevisiae)
  • ATP-binding cassette, sub-family B, member 7
    • ABC transporter 7
    • ATP-binding cassette 7
    • ATP-binding cassette transporter 7
    • ATP-binding cassette, sub-family B (MDR/TAP), member 7
  • ATPase copper transporting beta
    • ATPase, Cu++ transporting, beta polypeptide
    • ATPase, cu++ transporting, beta polypeptide (wilson disease)
  • ATPase Na+/K+ transporting subunit alpha 3
    • ATPase, Na+/K+ transporting, alpha 3 polypeptide
    • dystonia 12
    • sodium-potassium-ATPase, alpha-3 polypeptide
  • calcium voltage-gated channel auxiliary subunit beta 4
    • calcium channel, voltage-dependent, beta 4 subunit
  • calcium voltage-gated channel subunit alpha 1A
    • calcium channel, l type, alpha-1 polypeptide, isoform 4
    • calcium channel, voltage-dependent, P/Q type, alpha 1A subunit
    • calcium channel, voltage-dependent, P/Q type, alpha-1A subunit
  • cytochrome P450, family 27, subfamily A, member 1
    • cytochrome P450, family 27, subfamily A, polypeptide 1
    • cytochrome P450, subfamily XXVIIA (steroid 27-hydroxylase, cerebrotendinous xanthomatosis), polypeptide 1
    • cytochrome P450, subfamily XXVIIA, polypeptide 1
    • sterol 27-hydroxylase
  • eukaryotic translation elongation factor 2
  • ferritin light chain
    • ferritin, light polypeptide
  • fibroblast growth factor 14
    • fibroblast growth factor homologous factor 4
  • frataxin
    • frataxin
    • frda gene
    • x25
  • glucosylceramidase beta
    • glucocerebrosidase
    • glucocerebrosidase beta
    • glucosidase, acid beta
    • glucosidase, beta, acid
    • glucosidase, beta; acid (includes glucosylceramidase)
  • glucosylceramidase beta 2
    • beta-glucosidase, bile acid
    • bile acid beta-glucosidase
    • glucosidase, beta (bile acid) 2
    • glucosidase, beta, acid 2
    • glucosylceramidase, nonlysosomal
    • spastic paraplegia 46 (autosomal recessive)
  • inositol 1,4,5-trisphosphate receptor, type 1
    • spinocerebellar ataxia 15
    • spinocerebellar ataxia 16
    • spinocerebellar ataxia 29
  • interferon-related developmental regulator 1
  • mitochondrial poly(A) polymerase
    • PAP associated domain containing 1
    • poly(A) polymerase, mitochondrial
    • poly(A) polymerase-associated domain-containing protein 1
  • potassium voltage-gated channel subfamily A member 1
    • kv1.1
    • mk1, mouse, homolog of
    • potassium channel, voltage-gated, shaker-related subfamily, member 1
    • potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia)
  • potassium voltage-gated channel subfamily C member 3
    • potassium channel, voltage gated Shaw related subfamily C, member 3
    • potassium voltage-gated channel, Shaw-related subfamily, member 3
    • spinocerebellar ataxia 13
  • potassium voltage-gated channel subfamily D member 3
    • potassium voltage-gated channel, Shal-related subfamily, member 3
    • spinocerebellar ataxia 19
    • spinocerebellar ataxia 22
  • prodynorphin
    • enkephalin B
    • preproenkephalin B
    • spinocerebellar ataxia 23
  • proline-rich transmembrane protein 2
  • protein kinase C gamma
  • sacsin molecular chaperone
    • sacsin
    • spastic ataxia of Charlevoix-Saguenay (sacsin)
  • senataxin
    • amyotrophic lateral sclerosis 4
    • spinocerebellar ataxia, recessive, non-Friedreich type 1
  • SIL1 nucleotide exchange factor
    • BIP-associated protein
    • Marinesco-Sjogren syndrome
    • SIL1 homolog, endoplasmic reticulum chaperone (S. cerevisiae)
    • SIL1, s. cerevisiae, homolog of
  • solute carrier family 1 member 3
    • excitatory amino acid transporter 1
    • glial high affinity glutamate transporter
    • glutamate/aspartate transporter, high affinity, sodium-dependent
    • solute carrier family 1 (glial high affinity glutamate transporter), member 3
  • solute carrier family 16 member 2
    • allan-herndon-dudley syndrome
    • solute carrier family 16 (monocarboxylic acid transporters), member 2
    • solute carrier family 16 (monocarboxylic acid transporters), member 2 (putative transporter)
    • solute carrier family 16, member 2 (monocarboxylic acid transporter 8)
    • solute carrier family 16, member 2 (thyroid hormone transporter)
  • solute carrier family 2 member 1
    • erythrocyte/hepatoma glucose transporter
    • glucose transporter 1
    • solute carrier family 2 (facilitated glucose transporter), member 1
  • spectrin, beta, non-erythrocytic 2
    • glutamate transporter EAAT4-associated protein 41
    • spectrin, beta-III
    • spinocerebellar ataxia 5
  • SPG7, paraplegin matrix AAA peptidase subunit
    • cell adhesion regulator
    • cell matrix adhesion regulator
    • paraplegin
    • spastic paraplegia 7 (pure and complicated autosomal recessive)
  • TAU tubulin kinase 2
    • spinocerebellar ataxia 11
  • transglutaminase 6
    • transglutaminase 3-like
    • transglutaminase Y
  • twinkle mtDNA helicase
    • chromosome 10 open reading frame 2
    • infantile onset spinocerebellar ataxia (autosomal recessive)
    • progressive external ophthalmoplegia 1
    • t7 gene 4-like protein with intramitochondrial nucleoid localization
    • twinkle
  • vesicle associated membrane protein 1
    • synaptobrevin 1
    • vesicle-associated membrane protein 1 (synaptobrevin 1)
Neurogenetic Disorders 96 Gene Panel (consisting of 5 tests)

Sheffield RGC - 2014

  • Alternating Hemiplegia Of Childhood 1
  • Dystonia 9
    • Choreoathetosis, Kinesigenic, With Episodic Ataxia And Spasticity
    • Choreoathetosis/Spasticity, Episodic
    • CSE Choreoathetosis, Paroxysmal, With Episodic Ataxia
  • Episodic Ataxia, Type 6
  • Episodic Kinesigenic Dyskinesia 1
    • Dystonia 10
    • Dystonia, Familial Paroxysmal
    • Paroxysmal Kinesigenic Choreoathetosis
    • Paroxysmal Kinesigenic Dyskinesia
  • Migraine, Familial Hemiplegic, 1
    • Familial Hemiplegic Migraine
    • Familial Hemiplegic Migraine With Progressive Cerebellar Ataxia
    • Migraine, Familial Hemiplegic 1, With Progressive Cerebellar Ataxia, Included
    • Migraine, Sporadic Hemiplegic, Included
    • Sporadic Hemiplegic Migraine
  • Migraine, Familial Hemiplegic, 2
  • Migraine, Familial Hemiplegic, 3
  • ATPase Na+/K+ transporting subunit alpha 2
    • ATPase, Na+/K+ transporting, alpha 2 (+) polypeptide
    • ATPase, Na+/K+ transporting, alpha 2 polypeptide
    • migraine, hemiplegic 2
    • Na,K-ATPase, alpha-a(+) catalytic polypeptide
    • Na,K-ATPase, alpha-b polypeptide
    • sodium-potassium-ATPase, alpha-2 polypeptide
  • calcium voltage-gated channel subunit alpha 1A
    • calcium channel, l type, alpha-1 polypeptide, isoform 4
    • calcium channel, voltage-dependent, P/Q type, alpha 1A subunit
    • calcium channel, voltage-dependent, P/Q type, alpha-1A subunit
  • proline-rich transmembrane protein 2
  • sodium voltage-gated channel alpha subunit 1
    • sodium channel, brain type i, alpha subunit
    • sodium channel, voltage-gated, type I, alpha subunit
  • solute carrier family 1 member 3
    • excitatory amino acid transporter 1
    • glial high affinity glutamate transporter
    • glutamate/aspartate transporter, high affinity, sodium-dependent
    • solute carrier family 1 (glial high affinity glutamate transporter), member 3
  • solute carrier family 2 member 1
    • erythrocyte/hepatoma glucose transporter
    • glucose transporter 1
    • solute carrier family 2 (facilitated glucose transporter), member 1
Neurogenetic Disorders 96 Gene Panel (consisting of 5 tests)

Sheffield RGC - 2014

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