Gene Scoring / Category S 47 genes
Database updated on January 13, 2021
Category:
Reports:
Reports:
| Status | Gene Symbol | Gene Name | Chromosome | Genetic Category | Gene Score | Syndromic | reports |
|---|---|---|---|---|---|---|---|
| ACTB | actin beta | 7 | Rare Single Gene Mutation, Syndromic | 1 | S | 3 | |
| ANKS1B | ankyrin repeat and sterile alpha motif domain containing 1B | 12 | Rare Single Gene Mutation, Syndromic | 3 | S | 4 | |
| ARID2 | AT-rich interaction domain 2 | 12 | Rare Single Gene Mutation, Syndromic | 3 | S | 9 | |
| ATP1A1 | ATPase Na+/K+ transporting subunit alpha 1 | 1 | Rare Single Gene Mutation, Syndromic | 3 | S | 5 | |
| ATP1A3 | ATPase Na+/K+ transporting subunit alpha 3 | 19 | Rare Single Gene Mutation, Syndromic, Functional | 3 | S | 14 | |
| CACNA1A | Calcium channel, voltage-dependent, P/Q type, alpha 1A subunit | 19 | Rare Single Gene Mutation, Genetic Association | 1 | S | 17 | |
| CAMK2A | calcium/calmodulin dependent protein kinase II alpha | 5 | Rare Single Gene Mutation, Syndromic, Genetic Association, Functional | 3 | S | 8 | |
| CEP290 | Centrosomal protein 290kDa | 12 | Rare Single Gene Mutation, Syndromic | 3 | S | 8 | |
| CHD1 | chromodomain helicase DNA binding protein 1 | 5 | Rare Single Gene Mutation | 3 | S | 4 | |
| CLCN4 | chloride voltage-gated channel 4 | X | Rare Single Gene Mutation, Syndromic | 3 | S | 5 | |
| CNKSR2 | connector enhancer of kinase suppressor of Ras 2 | X | Rare Single Gene Mutation, Syndromic | 2 | S | 7 | |
| CNTNAP2 | contactin associated protein-like 2 | 7 | Rare Single Gene Mutation, Syndromic, Genetic Association | 2 | S | 68 | |
| CUX2 | cut like homeobox 2 | 12 | Rare Single Gene Mutation, Syndromic | 3 | S | 8 | |
| DLL1 | delta like canonical Notch ligand 1 | 6 | Rare Single Gene Mutation, Syndromic | 3 | S | 2 | |
| FBXO11 | F-box protein 11 | 2 | Rare Single Gene Mutation, Syndromic | 3 | S | 6 | |
| GABBR2 | gamma-aminobutyric acid type B receptor subunit 2 | 9 | Rare Single Gene Mutation, Syndromic, Functional | 3 | S | 11 | |
| HDAC4 | histone deacetylase 4 | 2 | Rare Single Gene Mutation, Syndromic, Genetic Association | 3 | S | 16 | |
| KAT6A | K(lysine) acetyltransferase 6A | 8 | Rare Single Gene Mutation, Syndromic | 2 | S | 15 | |
| KIF5C | Kinesin family member 5C | 2 | Rare Single Gene Mutation, Syndromic | 3 | S | 9 | |
| MED12L | mediator complex subunit 12L | 3 | Rare Single Gene Mutation, Syndromic | 3 | S | 4 | |
| MSL3 | MSL complex subunit 3 | X | Rare Single Gene Mutation, Syndromic | 2 | S | 5 | |
| MTOR | Mechanistic target of rapamycin (serine/threonine kinase) | 1 | Rare Single Gene Mutation, Syndromic, Functional | 2 | S | 18 | |
| NFIB | nuclear factor I B | 9 | Rare Single Gene Mutation, Syndromic | 3 | S | 5 | |
| NR2F1 | nuclear receptor subfamily 2 group F member 1 | 5 | Rare Single Gene Mutation, Syndromic, Functional | 3 | S | 19 | |
| NTNG1 | netrin G1 | 1 | Rare Single Gene Mutation, Syndromic, Genetic Association | 3 | S | 8 | |
| PCCB | propionyl-CoA carboxylase beta subunit | 3 | Rare Single Gene Mutation, Syndromic | 1 | S | 9 | |
| NSD2 | nuclear receptor binding SET domain protein 2 | 4 | Rare Single Gene Mutation, Syndromic | 2 | S | 9 | |
| PPM1D | protein phosphatase, Mg2+/Mn2+ dependent 1D | 17 | Rare Single Gene Mutation, Syndromic | 3 | S | 6 | |
| PRODH | Proline dehydrogenase (oxidase) 1 | 22 | Syndromic, Genetic Association | 2 | S | 6 | |
| POLR3A | RNA polymerase III subunit A | 10 | Rare Single Gene Mutation, Syndromic | 3 | S | 7 | |
| RNF135 | Ring finger protein 135 | 17 | Rare Single Gene Mutation, Syndromic, Genetic Association | 3 | S | 4 | |
| RPS6KA3 | Ribosomal protein S6 kinase, 90kDa, polypeptide 3 | X | Rare Single Gene Mutation, Syndromic | 3 | S | 9 | |
| SATB2 | SATB homeobox 2 | 2 | Rare Single Gene Mutation, Syndromic, Genetic Association | 3 | S | 30 | |
| RIMS2 | regulating synaptic membrane exocytosis 2 | 8 | Rare Single Gene Mutation, Syndromic, Genetic Association | 3 | S | 3 | |
| SETD1B | SET domain containing 1B | 12 | Rare Single Gene Mutation, Syndromic | 3 | S | 10 | |
| SMARCA2 | SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 | 9 | Rare Single Gene Mutation, Syndromic, Genetic Association | 1 | S | 16 | |
| SMC3 | structural maintenance of chromosomes 3 | 10 | Rare Single Gene Mutation, Syndromic | 3 | S | 9 | |
| SUPT16H | SPT16 homolog, facilitates chromatin remodeling subunit | 14 | Rare Single Gene Mutation | 2 | S | 6 | |
| SYNE1 | spectrin repeat containing, nuclear envelope 1 | 6 | Rare Single Gene Mutation, Genetic Association | 3 | S | 17 | |
| TRRAP | transformation/transcription domain associated protein | 7 | Rare Single Gene Mutation, Syndromic | 3 | S | 9 | |
| TTN | titin | 2 | Rare Single Gene Mutation, Syndromic | 3 | S | 23 | |
| UNC13A | unc-13 homolog A | 19 | Rare Single Gene Mutation, Syndromic | 3 | S | 7 | |
| USP7 | Ubiquitin specific peptidase 7 (herpes virus-associated) | 16 | Rare Single Gene Mutation, Syndromic | 2 | S | 7 | |
| USP9X | ubiquitin specific peptidase 9 X-linked | X | Rare Single Gene Mutation, Syndromic, Functional | 1 | S | 10 | |
| YWHAG | tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein gamma | 7 | Rare Single Gene Mutation, Syndromic | 3 | S | 6 | |
| ZMIZ1 | zinc finger MIZ-type containing 1 | 10 | Rare Single Gene Mutation, Syndromic | 2 | S | 4 | |
| ZMYM2 | zinc finger MYM-type containing 2 | 13 | Rare Single Gene Mutation, Syndromic | 2 | S | 5 |