NGS de novo Mutation Related Gene List
| Gene ID | Gene Symbol | Band | Gene Name | #de novo Studies | Score |
|---|---|---|---|---|---|
| AutG8777 | MPDZ | 9p23 | multiple PDZ domain protein | 2 | 2 |
| AutG5290 | PIK3CA | 3q26.32 | phosphoinositide-3-kinase, catalytic, alpha polypeptide | 2 | 2 |
| AutG79867 | TCTN2 | 12q24.31 | tectonic family member 2 | 2 | 2 |
| AutG5087 | PBX1 | 1q23.3 | pre-B-cell leukemia homeobox 1 | 2 | 2 |
| AutG4627 | MYH9 | 22q12.3 | myosin, heavy chain 9, non-muscle | 2 | 2 |
| AutG7051 | TGM1 | 14q12 | transglutaminase 1 (K polypeptide epidermal type I, protein-glutamine-gamma-glutamyltransferase) | 2 | 2 |
| AutG26155 | NOC2L | 1p36.33 | nucleolar complex associated 2 homolog (S. cerevisiae) | 2 | 2 |
| AutG23090 | ZNF423 | 16q12.1 | zinc finger protein 423 | 2 | 2 |
| AutG7415 | VCP | 9p13.3 | valosin-containing protein | 2 | 2 |
| AutG6441 | SFTPD | 10q22.3 | surfactant protein D | 2 | 2 |
| AutG146760 | RTN4RL1 | 17p13.3 | reticulon 4 receptor-like 1 | 2 | 2 |
| AutG23524 | SRRM2 | 16p13.3 | serine/arginine repetitive matrix 2 | 2 | 2 |
| AutG57565 | KLHL14 | 18q12.1 | kelch-like 14 (Drosophila) | 2 | 2 |
| AutG57510 | XPO5 | 6p21.1 | exportin 5 | 2 | 2 |
| AutG5978 | REST | 4q12 | RE1-silencing transcription factor | 2 | 2 |
| AutG26278 | SACS | 13q12.12 | spastic ataxia of Charlevoix-Saguenay (sacsin) | 2 | 2 |
| AutG4209 | MEF2D | 1q22 | myocyte enhancer factor 2D | 2 | 2 |
| AutG6002 | RGS12 | 4p16.3 | regulator of G-protein signaling 12 | 2 | 2 |
| AutG64924 | SLC30A5 | 5q13.1-q13.2 | solute carrier family 30 (zinc transporter), member 5 | 2 | 2 |
| AutG2890 | GRIA1 | 5q33.2 | glutamate receptor, ionotropic, AMPA 1 | 2 | 2 |