|
| Gene symbol |
Name |
Disease |
|
| | (a) Leukodystrophies (20 genes) | |
|
| ARSA | Arylsulfatase A | Leukodystrophy metachromatic (MLD) |
| ASPA | Aspartoacylase | Canavan disease |
| EIF2B1 | Eukaryotic translation initiation factor 2B, subunit 1 alpha, 26 kDa | Leukodystrophy |
| EIF2B2 | Eukaryotic translation initiation factor 2B, subunit 2 beta, 39 kDa | Leukodystrophy |
| EIF2B3 | Eukaryotic translation initiation factor 2B, subunit 3 gamma, 58 kDa | Leukodystrophy |
| EIF2B4 | Eukaryotic translation initiation factor 2B, subunit 4 delta, 67 kDa | Leukodystrophy |
| EIF2B5 | Eukaryotic translation initiation factor 2B, subunit 5 epsilon, 82 kDa | Leukodystrophy |
| GALC | Galactosylceramidase | Leukodystrophy globoid cell (GLD) |
| GFAP | Glial fibrillary acidic protein | Alexander disease |
| MLC1 | Megalencephalic leukoencephalopathy with subcortical cysts 1 | Megalencephalic leukoencephalopathy |
| NOTCH3 | Notch3 | CADASIL |
| PLP1 | Proteolipid protein 1 | Leukodystrophy hypomyelinating type 1 (HLD1) |
| PSAP | Prosaposin | Leukodystrophy metachromatic |
| RNASEH2A | Ribonuclease H2, subunit A | Aicardi-Goutieres syndrome type 4 (AGS4) |
| RNASEH2B | Ribonuclease H2, subunit B | Aicardi-Goutieres syndrome type 2 (AGS2) |
| RNASEH2C | Ribonuclease H2, subunit C | Aicardi-Goutieres syndrome type 3 (AGS3 |
| SAMHD1 | SAM domain and HD domain 1 | Aicardi-Goutieres syndrome type 5 (AGS5) |
| SDHA | Succinate dehydrogenase complex, subunit A, flavoprotein (Fp) | Leigh syndrome |
| SUMF1 | Sulfatase modifying factor 1 | Multiple sulfatase deficiency (MSD) |
| TREX1 | Three prime repair exonuclease 1 | Aicardi-Goutieres syndrome type 1 (AGS1) |
|
| | (b) Migraine (6 genes) | |
|
| ATP1A2 | ATPase, Na+/K+ transporting, alpha 2 polypeptide | Migraine familial hemiplegic type 2 (FHM2) |
| CACNA1A | Calcium channel, voltage-dependent, P/Q type, alpha 1A subunit | Spinocerebellar ataxia type 6 (SCA6) |
| NOTCH3 | Notch 3 | CADASIL |
| POLG | Polymerase (DNA directed), gamma | Progressive external ophthalmoplegia |
| SCN1A | Sodium channel, voltage-gated, type I, alpha subunit | Migraine familial hemiplegic type 3 (FHM3) |
| SLC2A1 | Solute carrier family 2 (facilitated glucose transporter), member 1 | GLUT1 deficiency type 1
(GLUT1DS1) syndrome |
|
| (c) Disorders of Ras-MAPK pathway with epilepsy (13 genes) | |
|
| BRAF | V-raf murine sarcoma viral oncogene homolog B1 | Cardiofaciocutaneous (CFC ) syndrome |
| CBL | Cas-Br-M (murine) ecotropic retroviral transforming sequence | Noonan syndrome-like disorder (NSL) |
| HRAS | V-Ha-ras Harvey rat sarcoma viral oncogene homolog | Faciocutaneoskeletal (FCSS) syndrome |
| KRAS | V-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog | Noonan type 3 (NS3) syndrome |
| MAP2K1 | Mitogen-activated protein kinase kinase 1 | cardiofaciocutaneous (CFC) syndrome |
| MAP2K2 | Mitogen-activated protein kinase kinase 2 | cardiofaciocutaneous (CFC) syndrome |
| NF1 | Neurofibromin 1 | Neurofibromatosis type 1 |
| NRAS | Neuroblastoma RAS viral (v-ras) oncogene homolog | Noonan type 6 (NS6) syndrome |
| PTPN11 | Protein tyrosine phosphatase, non-receptor type 11 | LEOPARD type 1 (LEOPARD1) syndrome |
| RAF1 | V-raf-1 murine leukemia viral oncogene homolog 1 | Noonan type 5 (NS5) syndrome |
| SHOC2 | Soc-2 suppressor of clear homolog (C. elegans) | Noonan syndrome-like with loose anagen hair |
| SOS1 | Son of sevenless homolog 1 (Drosophila) | Noonan type 4 (NS4) syndrome |
| SPRED1 | Sprouty-related, EVH1 domain containing 1 | Neurofibromatosis type 1-like syndrome |
|
| | (d) Hyperekplexia (5 genes) | |
|
| ARHGEF9 | Cdc42 guanine nucleotide exchange factor (GEF) 9 | Hyperekplexia with epilepsy |
| GLRA1 | Glycine receptor, alpha 1 | Hyperekplexia with epilepsy |
| GLRB | Glycine receptor, beta | Hyperekplexia with epilepsy |
| GPHN | Gephyrin | Hyperekplexia with epilepsy |
| SLC6A5 | solute carrier family 6 (neurotransmitter, transporter, glycine), member 5 | Hyperekplexia with epilepsy |
|
| | (e) Neuronal migration disorders (31 genes) | |
|
| ARFGEF2 | ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited) | Microcephaly |
| ARX | Aristaless-related homeobox | Early infantile epileptic encephalopathy |
| COL18A1 | Collagen, type XVIII, alpha 1 | Polymicrogyria |
| COL4A1 | Collagen, type IV, alpha 1 | Porencephaly |
| CPT2 | Carnitine palmitoyltransferase 2 | Polymicrogyria |
| DCX | Doublecortin | Lissencephaly |
| EMX2 | Empty spiracles homeobox 2 | Schizencephaly |
| EOMES | Eomesodermin | Polymicrogyria |
| FGFR3 | Fibroblast growth factor receptor 3 | Polymicrogyria |
| FKRP | Fukutin related protein | Walker-Warburg syndrome |
| FKTN | Fukutin | Walker-Warburg syndrome |
| FLNA | Filamin A, alpha | Periventricular heterotopia |
| GPR56 | G protein-coupled receptor 56 | Polymicrogyria |
| LAMA2 | Laminin, alpha2 | Merosin deficiency |
| LARGE | Like-glycosyltransferase | Walker-Warburg syndrome |
| PAFAH1B1 | Platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45 kDa) | Lissencephaly |
| PAX6 | Paired box 6 | Polymicrogyria |
| PEX7 | Peroxisomal biogenesis factor 7 | Polymicrogyria |
| POMGNT1 | Protein O-linked mannose beta1,2-N-acetylglucosaminyltransferase | Walker-Warburg syndrome |
| POMT1 | Protein O-mannosyltransferase 1 | Walker-Warburg syndrome |
| POMT2 | Protein O-mannosyltransferase 2 | Walker-Warburg syndrome |
| PQBP1 | Polyglutamine binding protein 1 | X-linked mental retardation |
| RAB3GAP | RAB3 GTPase activating protein subunit 1 (catalytic) | Warburg microsyndrome |
| RELN | Reelin | Lissencephaly |
| SNAP29 | Synaptosomal-associated protein, 29 kDa | Cerebral dysgenesis |
| SRPX2 | Sushi-repeat containing protein, X-linked 2 | Rolandic epilepsy |
| TUBA1A | Tubulin, alpha 1a | Lissencephaly |
| TUBA8 | Tubulin, alpha 8 | Polymicrogyria |
| TUBB2B | Voltage-dependent anion channel 1 | Polymicrogyria |
| VDAC1 | Voltage-dependent anion channel 1 | Polymicrogyria |
| WDR62 | WD repeat domain 62 | Microcephaly, cortical malfor, mental retardatation |
|
