Gene Scoring / Category 2 33 genes
Database updated on June 20, 2019
Category:
Reports:
Reports:
| Status | Gene Symbol | Gene Name | Chromosome | Genetic Category | Gene Score | Syndromic | reports |
|---|---|---|---|---|---|---|---|
| CACNA1D | calcium channel, voltage-dependent, L type, alpha 1D | 3 | Rare Single Gene Mutation, Syndromic, Genetic Association, Functional | 2 | 18 | ||
| CACNA1H | calcium channel, voltage-dependent, alpha 1H subunit | 16 | Rare Single Gene Mutation | 2 | 23 | ||
| CACNA2D3 | Calcium channel, voltage-dependent, alpha 2/delta subunit 3 | 3 | Rare Single Gene Mutation | 2 | 6 | ||
| CEP41 | testis specific, 14 | 7 | Rare Single Gene Mutation, Syndromic | 2 | 5 | ||
| CNTN4 | contactin 4 | 3 | Rare Single Gene Mutation, Syndromic, Genetic Association | 2 | 21 | ||
| CNTNAP2 | contactin associated protein-like 2 | 7 | Rare Single Gene Mutation, Syndromic, Genetic Association | 2 | S | 64 | |
| CTNND2 | Catenin (cadherin-associated protein), delta 2 | 5 | Rare Single Gene Mutation | 2 | 5 | ||
| CUX1 | cut like homeobox 1 | 7 | Rare Single Gene Mutation, Functional | 2 | 6 | ||
| DIP2C | disco interacting protein 2 homolog C | 10 | Rare Single Gene Mutation | 2 | 2 | ||
| ERBIN | erbb2 interacting protein | 5 | Rare Single Gene Mutation | 2 | 5 | ||
| GABRB3 | gamma-aminobutyric acid (GABA) A receptor, beta 3 | 15 | Rare Single Gene Mutation, Genetic Association | 2 | 37 | ||
| GRIA1 | glutamate ionotropic receptor AMPA type subunit 1 | 5 | Rare Single Gene Mutation | 2 | 5 | ||
| GRIP1 | glutamate receptor interacting protein 1 | 12 | Rare Single Gene Mutation | 2 | 12 | ||
| ILF2 | Interleukin enhancer binding factor 2 | 1 | Rare Single Gene Mutation | 2 | 4 | ||
| INTS6 | Integrator complex subunit 6 | 13 | Rare Single Gene Mutation | 2 | 4 | ||
| KAT2B | K(lysine) acetyltransferase 2B | 3 | Rare Single Gene Mutation | 2 | 6 | ||
| KDM5B | Lysine (K)-specific demethylase 5B | 1 | Rare Single Gene Mutation, Syndromic, Functional | 2 | 12 | ||
| KDM6A | lysine demethylase 6A | X | Rare Single Gene Mutation, Syndromic | 2 | 6 | ||
| LEO1 | LEO1 homolog, Paf1/RNA polymerase II complex component | 15 | Rare Single Gene Mutation | 2 | 3 | ||
| MACROD2 | MACRO domain containing 2 | 20 | Rare Single Gene Mutation, Genetic Association | 2 | 19 | ||
| MET | met proto-oncogene (hepatocyte growth factor receptor) | 7 | Rare Single Gene Mutation, Genetic Association, Functional | 2 | 37 | ||
| NCOR1 | nuclear receptor corepressor 1 | 17 | Rare Single Gene Mutation, Functional | 2 | 6 | ||
| MSNP1AS | Moesinpseudogene 1, antisense | 5 | Genetic Association, Functional | 2 | 12 | ||
| RANBP17 | RAN binding protein 17 | 5 | Rare Single Gene Mutation | 2 | 5 | ||
| SCN9A | sodium voltage-gated channel alpha subunit 9 | 2 | Rare Single Gene Mutation | 2 | 5 | ||
| SET | SETnuclear proto-oncogene | 9 | Rare Single Gene Mutation | 2 | 4 | ||
| SRSF11 | serine and arginine rich splicing factor 11 | 1 | Rare Single Gene Mutation | 2 | 4 | ||
| TAOK2 | TAO kinase 2 | 16 | Rare Single Gene Mutation, Functional | 2 | 5 | ||
| TBL1XR1 | transducin beta like 1 X-linked receptor 1 | 3 | Rare Single Gene Mutation, Syndromic | 2 | 18 | ||
| TNRC6B | Trinucleotide repeat containing 6B | 22 | Rare Single Gene Mutation | 2 | 7 | ||
| UBN2 | ubinuclein 2 | 7 | Rare Single Gene Mutation | 2 | 3 | ||
| USP15 | ubiquitin specific peptidase 15 | 12 | Rare Single Gene Mutation | 2 | 3 | ||
| USP7 | Ubiquitin specific peptidase 7 (herpes virus-associated) | 16 | Rare Single Gene Mutation, Syndromic | 2 | S | 7 |