Testing Criteria

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Testing criteria Disorders Genes Date
Lateral Meningocele Syndrome
  • Lateral Meningocele Syndrome
    • Lehman Syndrome
  • notch 3
    • notch homolog 3 (drosophila)
    • notch, drosophila, homolog of, 3
2016
Learning Disability, Developmental Delay, Congenital Anomalies (copy number analysis by NGS)
  • Learning Disability, Developmental Delay, Congenital Anomalies (Copy Number Analysis By NGS)
  • Various Genes
    • aCGH
    • arrayCGH
    • microarray
2015
Learning Disability, Developmental Delay, Congenital Anomalies (First Line)
  • Learning Disability Or Developmental Delay With Dysmorphism Or Congenital Malformations (First Line)
    • Intellectual Disability
    • Syndromic Mental Retardation
  • Various Genes
    • aCGH
    • arrayCGH
    • microarray
2015
Learning Disability, Developmental Delay, Congenital Anomalies (Second Line)
  • Learning Disability Or Developmental Delay With Dysmorphism Or Congenital Malformations (Second Line)
    • Intellectual Disability
    • Syndromic Mental Retardation
  • Various Genes
    • aCGH
    • arrayCGH
    • microarray
2009
Legius Syndrome
  • Legius Syndrome
    • Neurofibromatosis, Type 1-Like Syndrome
  • sprouty-related, EVH1 domain containing 1
2008
Leopard and Noonan Syndrome 2008
Lethal Fetal/Neonatal Autosomal Recessive Disorders Whole Exome Panel
  • Lethal Fetal/Neonatal Autosomal Recessive Disorders
  • Various Genes
    • aCGH
    • arrayCGH
    • microarray
2015
Leukodystrophy, Hypomyelinating and Mitochondrial Leukoencephalopathy 96 Gene Panel
  • Adrenoleukodystrophy
    • Addison Disease And Cerebral Sclerosis
    • Adrenomyeloneuropathy
    • Bronze Schilder Disease
    • Melanodermic Leukodystrophy
    • Siemerling-Creutzfeldt Disease
  • Aicardi-Goutieres Syndrome 1
    • Encephalopathy, Familial Infantile, With Calcification Of Basal Ganglia And Chronic Cerebrospinal Fluid Lymphocytosis
  • Aicardi-Goutieres Syndrome 2
  • Aicardi-Goutieres Syndrome 3
  • Aicardi-Goutieres Syndrome 4
  • Aicardi-Goutieres Syndrome 5
  • Aicardi-Goutieres Syndrome 6
  • Aicardi-Goutieres Syndrome 7
  • Alexander Disease
  • 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
  • Canavan Disease
    • Acy2 Deficiency
    • Aminoacylase 2 Deficiency
    • Asp Deficiency
    • Aspa Deficiency
    • Aspartoacylase Deficiency
    • Canavan-Van Bogaert-Bertrand Disease
    • Spongy Degeneration Of Central Nervous System
  • Cardioencephalomyopathy, Fatal Infantile, Due To Cytochrome C Oxidase Deficiency 1
    • Cytochrome C Oxidase Deficiency, Fatal Infantile, With Cardioencephalomyopathy
  • Cerebrotendinous Xanthomatosis
    • Cerebral Cholesterinosis
  • Cockayne Syndrome A
    • Cockayne Syndrome, Type A
  • Cockayne Syndrome B
    • Cockayne Syndrome, Type B
  • Coenzyme Q10 Deficiency, Primary, 1
    • Coenzyme Q Deficiency 1
    • CoQ Deficiency 1
    • CoQ10 Deficiency, Primary, 1
    • Ubiquinone Deficiency 1
  • Coenzyme Q10 Deficiency, Primary, 4
    • Spinocerebellar Ataxia, Autosomal Recessive 9
  • Coenzyme Q10 Deficiency, Primary, 5
  • Combined Oxidative Phosphorylation Deficiency 1
    • Hepatoencephalopathy, Early Fatal Progressive
  • Combined Oxidative Phosphorylation Deficiency 12
    • Leukoencephalopathy With Thalamus And Brainstem Involvement And High Lactate
  • Combined Oxidative Phosphorylation Deficiency 2
    • Corpus Callosum, Agenesis Of, With Dysmorphism And Fatal Lactic Acidosis
  • Combined Oxidative Phosphorylation Deficiency 4
  • D-Bifunctional Protein Deficiency
    • 17-Beta-Hydroxysteroid Dehydrogenase IV Deficiency
    • DBP Deficiency
    • PBFE Deficiency
    • Peroxisomal Bifunctional Enzyme Deficiency
  • Epileptic Encephalopathy, Early Infantile, 39
    • Hypomyelination, Global Cerebral
  • Fucosidosis
    • Alpha-L-Fucosidase Deficiency
  • Hypomyelination With Brainstem And Spinal Cord Involvement And Leg Spasticity
    • Aspartyl-Trna Synthetase Deficiency
  • Infantile Sialic Acid Storage Disease
    • N-Acetylneuraminic Acid Storage Disease
    • Nana Storage Disease
    • Sialuria, Infantile Form
  • Krabbe Disease
    • Galactocerebrosidase Deficiency
    • Galactosylceramide Beta-Galactosidase Deficiency
    • Galc Deficiency
    • Globoid Cell Leukodystrophy
    • Globoid Cell Leukoencephalopathy
  • Leigh Syndrome
    • Leigh Syndrome Due To Cytochrome C Oxidase Deficiency, Included
    • Necrotizing Encephalopathy, Infantile Subacute, Of Leigh
  • Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant
    • Pelizaeus-Merzbacher Disease, Autosomal Dominant Or Late-Onset Type, Formerly
  • Leukodystrophy, Hypomyelinating, 11
    • 0
  • Leukodystrophy, Hypomyelinating, 2
    • Pelizaeus-Merzbacher-Like Disease, 1
  • Leukodystrophy, Hypomyelinating, 3
  • Leukodystrophy, Hypomyelinating, 5
    • Hypomyelination And Congenital Cataract: Hcc
  • Leukodystrophy, Hypomyelinating, 6
    • Leukodystrophy, Hypomyelinating, With Atrophy of the Basal Ganglia and Cerebellum
  • Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
    • 4h Syndrome
    • Ataxia, Delayed Dentition, And Hypomyelination
    • Leukodystrophy, Hypomyelinating, With Hypodontia And Hypogonadotropic Hypogonadism
    • Leukoencephalopathy, Hypomyelinating, With Ataxia And Delayed Dentition
  • Leukodystrophy, Hypomyelinating, 8, With or Without Oligodontia and/or Hypogonadotropic Hypogonadism
    • 0
  • Leukodystrophy, Hypomyelinating, 9
    • 0
  • Leukoencephalopathy With Ataxia
    • 0
  • Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
    • Mitochondrial Aspartyl-tRNA Synthetase Deficiency
  • Leukoencephalopathy With Dystonia And Motor Neuropathy
    • Sterol Carrier Protein 2 Deficiency
  • Leukoencephalopathy, Cystic, Without Megalencephaly
  • Leukoencephalopathy, Diffuse Hereditary, With Spheroids
    • Dementia, Familial, Neumann Type
    • Gliosis, Familial Progressive Subcortical
    • Leukoencephalopathy With Neuroaxonal Spheroids, Autosomal Dominant
    • Subcortical Gliosis Of Neumann
  • Leukoencephalopathy, Progressive, With Ovarian Failure
    • 0
  • Leukoencephaly With Vanishing White Matter
    • Childhood Ataxia With Central Nervous System Hypomyelinization
    • Vanishing White Matter Leukodystrophy Cree Leuoencephalopathy
  • Megalencephalic Leukoencephalopathy With Subcortical Cysts 1
    • Lvm|Vl|Leukoencephalopathy With Swelling And Cysts
    • Vacuolating Megalencephalic Leukoencephalopathy With Subcortical Cysts
    • Van Der Knaap Disease
  • Megalencephalic Leukoencephalopathy With Subcortical Cysts 2A
    • 0
  • Metachromatic Leukodystrophy
    • Arsa Deficiency
    • Arylsulfatase A Deficiency
    • Cerebral Sclerosis, Diffuse, Metachromatic Form
    • Cerebroside Sulfatase Deficiency
    • Metachromatic Leukodystrophy, Adult, Included
    • Metachromatic Leukodystrophy, Juvenile, Included
    • Metachromatic Leukodystrophy, Late Infantile, Included
    • Metachromatic Leukoencephalopathy
    • Mld
    • Pseudoarylsulfatase A Deficiency, Included
    • Sulfatide Lipidosis
  • Metachromatic Leukodystrophy Due To Saposin B Deficiency
  • Mitochondrial Complex I Deficiency
    • Mitochondrial Nadh Dehydrogenase Component Of Complex I, Deficiency Of
    • Nadh-Coenzyme Q Reductase Deficiency
    • Nadh:Q(1) Oxidoreductase Deficiency
  • Mitochondrial Complex II Deficiency
    • Succinate CoQ Reductase Deficiency
  • Mitochondrial Complex III Deficiency, Nuclear Type 1
  • Mitochondrial Complex IV Deficiency
    • COX Deficiency
    • Cytochrome c Oxidase Deficiency
  • Mitochondrial Complex V (ATP Synthase) Deficiency, Nuclear Type 1
    • Mitochondrial Complex V (ATP Synthase) Deficiency, ATPAF2 Type
  • Mitochondrial DNA Depletion Syndrome 1 (MNGIE Type)
    • Mitochondrial Neurogastrointestinal Encephalopathy Syndrome, Tymp-Related
    • Mngie, Tymp-Related
    • Myoneurogastrointestinal Encephalopathy Syndrome
    • Polip Syndrome
    • Polyneuropathy, Ophthalmoplegia, Leukoencephalopathy, And Intestinal
    • Pseudoobstruction
  • Mitochondrial DNA Depletion Syndrome 12 (Cardiomyopathic Type)
  • Mitochondrial DNA Depletion Syndrome 3 (Hepatocerebral Type)
  • Mitochondrial DNA Depletion Syndrome 4A (Alpers Type)
    • Alpers Diffuse Degeneration Of Cerebral Gray Matter With Hepatic Cirrhosis
    • Alpers Progressive Infantile Poliodystrophy
    • Alpers Syndrome
    • Alpers-Huttenlocher Syndrome
    • Neuronal Degeneration Of Childhood With Liver Disease, Progressive
  • Mitochondrial DNA Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria)
    • Mitochondrial DNA Depletion Syndrome, Encephalomyopathic Form, With Or Without Methylmalonic Aciduria, Autosomal Recessive, SUCLA2-Related
  • 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
  • Mitochondrial DNA Depletion Syndrome 8B (MNGIE Type)
    • Mitochondrial Neurogastrointestinal Encephalopathy Syndrome, RRM2B-Related
  • Multiple Acyl-CoA Dehydrogenase Deficiency
    • Ethylmalonic-Adipicaciduria
    • GA II
    • Glutaric Acidemia II
    • Glutaric Aciduria II
  • Multiple Sulfatase Deficiency
    • Mucosulfatidosis
    • Sulfatidosis, Juvenile, Austin Type
  • Pelizaeus-Merzbacher Disease
  • Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, and Hirschsprung Disease
    • Waardenburg-Shah Syndrome, Neurologic Variant
  • Peroxisomal Acyl-CoA Oxidase Deficiency
    • Pseudoneonatal Adrenoleukodystrophy
    • Straight-Chain Acyl-CoA Oxidase Deficiency
  • Peroxisome Biogenesis Disorder 10a (Zellweger)
  • Peroxisome Biogenesis Disorder 11b
  • Peroxisome Biogenesis Disorder 1b
    • Infantile Phytanic Acid Storage Disease
    • Peroxisome Biogenesis Disorder (NALD/IRD)|Adrenoleukodystrophy, Autosomal Neonatal
    • Peroxisome Biogenesis Disorder (Neonatal Adrenoleukodystrophy/Infantile Refsum Disease)
    • Refsum Disease, Infantile
  • Peroxisome Biogenesis Disorder 2b
  • Peroxisome Biogenesis Disorder 3b
  • Peroxisome Biogenesis Disorder 4b
  • Peroxisome Biogenesis Disorder 5b
  • Peroxisome Biogenesis Disorder 6b
  • Peroxisome Biogenesis Disorder 7b
  • Peroxisome Biogenesis Disorder 8b
  • Polyglucosan Body Neuropathy, Adult Form
    • Polyglucosan Body Disease, Adult Form
  • Progressive External Ophthalmoplegia With Mitochondrial DNA Deletions, Autosomal Dominant, 4
    • Progressive External Ophthalmoplegia, Autosomal Dominant, 4
  • Sjogren-Larsson Syndrome
    • Faldh Deficiency
    • Fatty Alcohol:Nad+ Oxidoreductase Deficiency
    • Fatty Aldehyde Dehydrogenase Deficiency
    • Ichthyosis, Spastic Neurologic Disorder, And Oligophrenia
  • 1,4-alpha-glucan branching enzyme 1
    • amylo-(1,4 to 1,6) transglucosidase
    • amylo-(1,4 to 1,6) transglycosylase
    • glucan (1,4-alpha-), branching enzyme 1
    • glycogen branching enzyme
  • acyl-CoA oxidase 1
    • acyl-CoA oxidase 1, palmitoyl
  • adenosine deaminase, RNA-specific
    • interferon-induced protein 4
  • alanyl-tRNA synthetase 2, mitochondrial
    • alanine tRNA ligase 2, mitochondrial
    • alanyl-tRNA synthetase 2, mitochondrial (putative)
    • alanyl-tRNA synthetase like
  • aldehyde dehydrogenase 3 family, member A2
    • FALDH
  • alpha-L-fucosidase 1
    • fucosidase, alpha-L- 1, tissue
  • aminoacyl tRNA synthetase complex interacting multifunctional protein 1
    • EMAP-2
    • EMAPII
    • p43
  • arginyl-tRNA synthetase
    • arginine tRNA ligase 1, cytoplasmic
  • arylsulfatase A
    • arylsulphatase A
    • cerebroside 3-sulfatase
    • cerebroside 3-sulphatase
    • cerebroside-sulfatase
    • cerebroside-sulphatase
  • aspartoacylase
    • aminoacylase 2
    • aspartoacylase
    • aspartoacylase (aminoacylase 2, canavan disease)
  • aspartyl-tRNA synthetase
    • 0
  • aspartyl-tRNA synthetase 2, mitochondrial
  • ATP synthase mitochondrial F1 complex assembly factor 2
    • 0
  • ATP-binding cassette, sub-family D, member 1
    • adrenoleukodystrophy protein
    • ATP-binding cassette, sub-family D (ALD), member 1
  • BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone
  • chloride voltage-gated channel 2
    • chloride channel 2
    • chloride channel, voltage-sensitive 2
  • coenzyme Q2, polyprenyltransferase
    • coenzyme Q2 4-hydroxybenzoate polyprenyltransferase
    • parahydroxybenzoate-polyprenyltransferase, mitochondrial
  • coenzyme Q8A
    • aarF domain containing kinase 3
    • chaperone, ABC1 activity of bc1 complex homolog (S. pombe)
    • chaperone, ABC1 activity of bc1 complex like (S. pombe)
    • chaperone-ABC1 (activity of bc1 complex, S.pombe)-like
    • chaperone-activity of BC1 complex-like
    • COQ8, s. cerevisiae, homolog of
  • coenzyme Q9
    • DKFZP434K046
  • 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
  • COX10 heme A:farnesyltransferase cytochrome c oxidase assembly factor
    • 0
  • COX15 cytochrome c oxidase assembly homolog
    • CEMCOX2
  • 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
  • deoxyguanosine kinase
    • deoxyguanosine kinase, mitochondrial
  • DNA polymerase gamma 2, accessory subunit
    • POLG, accessory subunit
    • POLG-beta
    • polymerase (DNA directed), gamma 2, accessory subunit
    • polymerase, DNA, gamma-2
  • DNA polymerase gamma, catalytic subunit
    • polg, catalytic subunit
    • polg-alpha
    • polymerase (DNA directed), gamma
    • polymerase, DNA, gamma
    • polymerase, DNA, gamma-1
  • electron-transfer-flavoprotein dehydrogenase
    • electron-transferring-flavoprotein dehydrogenase
  • ERCC excision repair 6, chromatin remodeling factor
    • excision repair cross-complementing rodent repair deficiency, complementation group 6
  • ERCC excision repair 8, CSA ubiquitin ligase complex subunit
    • cockayne syndrome 1 (classical)
    • excision repair cross-complementing rodent repair deficiency, complementation group 8
  • eukaryotic translation initiation factor 2B subunit alpha
    • eukaryotic translation initiation factor 2B, subunit 1 (alpha, 26kD)
    • eukaryotic translation initiation factor 2B, subunit 1 alpha, 26kDa
  • eukaryotic translation initiation factor 2B subunit beta
    • eukaryotic translation initiation factor 2B, subunit 2 (beta, 39kD)
    • eukaryotic translation initiation factor 2B, subunit 2 beta, 39kDa
  • eukaryotic translation initiation factor 2B subunit delta
    • eukaryotic translation initiation factor 2B, subunit 4 (delta, 67kD)
    • eukaryotic translation initiation factor 2B, subunit 4 delta, 67kDa
  • eukaryotic translation initiation factor 2B subunit epsilon
    • eukaryotic translation initiation factor 2B, subunit 5 (epsilon, 82kD)
    • eukaryotic translation initiation factor 2B, subunit 5 epsilon, 82kDka
  • eukaryotic translation initiation factor 2B subunit gamma
    • eukaryotic translation initiation factor 2B, subunit 3 (gamma, 58kD)
    • eukaryotic translation initiation factor 2B, subunit 3 gamma, 58kDa
  • family with sequence similarity 126, member A
  • G elongation factor, mitochondrial 1
    • EFGM
    • EGF1
    • GFM
  • galactosylceramidase
    • galactosylceramidase (krabbe disease)
  • gap junction protein, gamma 2
    • connexin 46.6
    • connexin 47
    • gap junction protein, 47-kDa
    • gap junction protein, alpha 12, 47kDa
    • gap junction protein, gamma 2, 47kDa
    • gap junction protein, gamma-2
  • glial fibrillary acidic protein
  • glutamyl-tRNA synthetase 2, mitochondrial
    • glutamate tRNA ligase 2, mitochondrial
    • glutamyl-tRNA synthetase 2, mitochondrial (putative)
  • hepatic and glial cell adhesion molecule
    • glial cell adhesion molecule
    • hepatocyte cell adhesion molecule
  • hydroxysteroid 17-beta dehydrogenase 4
    • hydroxysteroid (17-beta) dehydrogenase 4
  • interferon induced with helicase C domain 1
    • 0
  • lamin B1
  • megalencephalic leukoencephalopathy with subcortical cysts 1
    • KIAA0027
    • LVM
    • MLC
    • VL
  • mitochondrial ribosomal protein S16
    • 0
  • NADH:ubiquinone oxidoreductase complex assembly factor 1
    • NADH dehydrogenase (ubiquinone) complex I, assembly factor 1
  • NADH:ubiquinone oxidoreductase core subunit S1
    • CI-75k
  • NADH:ubiquinone oxidoreductase core subunit S2
    • complex I 49kDa subunit
    • NADH dehydrogenase (ubiquinone) Fe-S protein 2 (49kD) (NADH-coenzyme Q reductase)
    • NADH dehydrogenase (ubiquinone) Fe-S protein 2, 49kDa (NADH-coenzyme Q reductase)
    • NADH dehydrogenase [ubiquinone] iron-sulfur protein 2, mitochondrial
  • NADH:ubiquinone oxidoreductase core subunit S7
    • CI-20
    • FLJ45860
    • FLJ46880
    • PSST
  • NADH:ubiquinone oxidoreductase core subunit S8
    • CI-23k
    • TYKY
  • NADH:ubiquinone oxidoreductase core subunit V1
    • CI-51K
  • NADH:ubiquinone oxidoreductase subunit S4
    • AQDQ
    • CI-18
  • nucleotide binding protein like
    • FLJ12660
    • huInd1
    • IND1
  • peroxisomal biogenesis factor 1
    • peroxin 1
  • peroxisomal biogenesis factor 10
    • peroxin 10
  • peroxisomal biogenesis factor 12
    • peroxin 12
  • peroxisomal biogenesis factor 13
    • peroxisome biogenesis factor 13
  • peroxisomal biogenesis factor 14
  • peroxisomal biogenesis factor 16
  • peroxisomal biogenesis factor 19
  • peroxisomal biogenesis factor 2
    • peroxisomal membrane protein 3 (35kD, Zellweger syndrome)
    • peroxisomal membrane protein 3, 35kDa
  • peroxisomal biogenesis factor 26
    • peroxin 26
    • peroxisome biogenesis factor 26
  • peroxisomal biogenesis factor 3
  • peroxisomal biogenesis factor 5
  • peroxisomal biogenesis factor 6
    • peroxin 6
    • peroxisomal assembly factor 2
    • peroxisomal-type ATPase 1
  • prosaposin
  • proteolipid protein 1
    • lipophilin
    • proteolipid protein, myelin
    • spastic paraplegia 2, uncomplicated
  • ribonuclease H2, subunit A
    • aicardi gourieres syndrome 4
    • ribonuclease H2, large subunit
    • ribonuclease HI, large subunit
    • RNAse HI, large subunit
  • ribonuclease H2, subunit B
    • aicardi gourieres syndrome 2
    • deleted in lymphocytic leukemia 8
  • ribonuclease H2, subunit C
    • aicardi gourieres syndrome 3
  • ribonuclease T2
    • bA514O12.3
    • FLJ10907
    • RNASE6PL
  • ribonucleotide reductase regulatory TP53 inducible subunit M2B
    • p53-inducible and ribonucleotide reductase small subunit 2-like
    • ribonucleotide reductase M2 B (TP53 inducible)
    • ribonucleotide reductase small subunit 2-like, p53-inducible
    • ribonucleotide reductase, M2 B
  • RNA polymerase I subunit C
    • polymerase (RNA) I polypeptide C, 30kDa
  • RNA polymerase III subunit A
    • hRPC155
    • polymerase (RNA) III subunit A
    • RPC1
    • RPC155
  • RNA polymerase III subunit B
    • FLJ10388
    • polymerase (RNA) III subunit B
    • RPC2
  • SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1
    • Aicardi-Goutieres syndrome 5
  • SCO1 cytochrome c oxidase assembly protein
    • 0
  • SCO2, cytochrome c oxidase assembly protein
    • SCO1L
  • 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 17 member 5
  • solute carrier family 25 member 12
  • solute carrier family 25 member 4
    • adenine nucleotide translocator 1
    • ADP/ATP carrier 1
    • ADP/ATP translocator of skeletal muscle
    • solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator) member 4
  • SRY-box 10
    • SRY (sex determining region Y)-box 10
  • sterol carrier protein 2
  • succinate dehydrogenase complex assembly factor 1
    • LYR motif containing 8
  • succinate dehydrogenase complex iron sulfur subunit B
    • paraganglioma, familial malignant, included
    • paragangliomas, familial nonchromaffin, 4, included
    • SDH2, homolog of
    • succinate dehydrogenase 1, iron sulfur subunit
    • succinate dehydrogenase 2, s. cerevisiae, homolog of
    • succinate dehydrogenase complex, subunit B, iron sulfur (IP)
    • succinate dehydrogenase complex, subunit B, iron sulfur protein
  • succinate-CoA ligase, ADP-forming, beta subunit
    • a-beta
    • ATP-specific succinyl-CoA synthetase, beta subunit
  • sulfatase modifying factor 1
  • SURF1, cytochrome c oxidase assembly factor
    • surfeit 1
    • surfeit locus protein 1
  • three prime repair exonuclease 1
    • aicardi gourieres syndrome 1
  • thymidine phosphorylase
    • endothelial cell growth factor 1 (platelet-derived)
    • endothelial cell growth factor, platelet-derived
    • gliostatin
    • platelet-derived endothelial cell growth factor
    • thymidine phosphorylase: tp
  • translational activator of cytochrome c oxidase I
    • 0
  • Tu translation elongation factor, mitochondrial
    • EF-TuMT
    • EFTu
    • EFTU
  • tubulin beta 4A class IVa
    • beta-5
  • 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
2016
Leukodystrophy, Hypomyelinating, 12 Gene Panel
  • 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
  • Epileptic Encephalopathy, Early Infantile, 39
    • Hypomyelination, Global Cerebral
  • Hypomyelination With Brainstem And Spinal Cord Involvement And Leg Spasticity
    • Aspartyl-Trna Synthetase Deficiency
  • Leukodystrophy, Hypomyelinating, 11
    • 0
  • Leukodystrophy, Hypomyelinating, 2
    • Pelizaeus-Merzbacher-Like Disease, 1
  • Leukodystrophy, Hypomyelinating, 3
  • Leukodystrophy, Hypomyelinating, 5
    • Hypomyelination And Congenital Cataract: Hcc
  • Leukodystrophy, Hypomyelinating, 6
    • Leukodystrophy, Hypomyelinating, With Atrophy of the Basal Ganglia and Cerebellum
  • Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
    • 4h Syndrome
    • Ataxia, Delayed Dentition, And Hypomyelination
    • Leukodystrophy, Hypomyelinating, With Hypodontia And Hypogonadotropic Hypogonadism
    • Leukoencephalopathy, Hypomyelinating, With Ataxia And Delayed Dentition
  • Leukodystrophy, Hypomyelinating, 8, With or Without Oligodontia and/or Hypogonadotropic Hypogonadism
    • 0
  • Leukodystrophy, Hypomyelinating, 9
    • 0
  • Pelizaeus-Merzbacher Disease
  • aminoacyl tRNA synthetase complex interacting multifunctional protein 1
    • EMAP-2
    • EMAPII
    • p43
  • arginyl-tRNA synthetase
    • arginine tRNA ligase 1, cytoplasmic
  • aspartyl-tRNA synthetase
    • 0
  • family with sequence similarity 126, member A
  • gap junction protein, gamma 2
    • connexin 46.6
    • connexin 47
    • gap junction protein, 47-kDa
    • gap junction protein, alpha 12, 47kDa
    • gap junction protein, gamma 2, 47kDa
    • gap junction protein, gamma-2
  • proteolipid protein 1
    • lipophilin
    • proteolipid protein, myelin
    • spastic paraplegia 2, uncomplicated
  • RNA polymerase I subunit C
    • polymerase (RNA) I polypeptide C, 30kDa
  • RNA polymerase III subunit A
    • hRPC155
    • polymerase (RNA) III subunit A
    • RPC1
    • RPC155
  • RNA polymerase III subunit B
    • FLJ10388
    • polymerase (RNA) III subunit B
    • RPC2
  • 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 25 member 12
  • tubulin beta 4A class IVa
    • beta-5
2016
Leukoencephalopathy With Vanishing White Matter 5 Gene Panel
  • Leukoencephaly With Vanishing White Matter
    • Childhood Ataxia With Central Nervous System Hypomyelinization
    • Vanishing White Matter Leukodystrophy Cree Leuoencephalopathy
  • eukaryotic translation initiation factor 2B subunit alpha
    • eukaryotic translation initiation factor 2B, subunit 1 (alpha, 26kD)
    • eukaryotic translation initiation factor 2B, subunit 1 alpha, 26kDa
  • eukaryotic translation initiation factor 2B subunit beta
    • eukaryotic translation initiation factor 2B, subunit 2 (beta, 39kD)
    • eukaryotic translation initiation factor 2B, subunit 2 beta, 39kDa
  • eukaryotic translation initiation factor 2B subunit delta
    • eukaryotic translation initiation factor 2B, subunit 4 (delta, 67kD)
    • eukaryotic translation initiation factor 2B, subunit 4 delta, 67kDa
  • eukaryotic translation initiation factor 2B subunit epsilon
    • eukaryotic translation initiation factor 2B, subunit 5 (epsilon, 82kD)
    • eukaryotic translation initiation factor 2B, subunit 5 epsilon, 82kDka
  • eukaryotic translation initiation factor 2B subunit gamma
    • eukaryotic translation initiation factor 2B, subunit 3 (gamma, 58kD)
    • eukaryotic translation initiation factor 2B, subunit 3 gamma, 58kDa
2016

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