NGS de novo Mutation Related Gene List
Gene ID | Gene Symbol | Band | Gene Name | #de novo Studies | Score |
---|---|---|---|---|---|
AutG23126 | POGZ | 1q21.3 | pogo transposable element with ZNF domain | 2 | 2 |
AutG29123 | ANKRD11 | 16q24.3 | ankyrin repeat domain 11 | 2 | 2 |
AutG7249 | TSC2 | 16p13.3 | tuberous sclerosis 2 | 2 | 2 |
AutG8831 | SYNGAP1 | 6p21.32 | synaptic Ras GTPase activating protein 1 | 2 | 2 |
AutG3778 | KCNMA1 | 10q22.3 | potassium large conductance calcium-activated channel, subfamily M, alpha member 1 | 2 | 2 |
AutG23040 | MYT1L | 2p25.3 | myelin transcription factor 1-like | 2 | 2 |
AutG6812 | STXBP1 | 9q34.11 | syntaxin binding protein 1 | 2 | 2 |
AutG5528 | PPP2R5D | 6p21.1 | protein phosphatase 2, regulatory subunit B', delta | 2 | 2 |
AutG342132 | ZNF774 | 15q26.1 | zinc finger protein 774 | 2 | 2 |
AutG26040 | SETBP1 | 18q12.3 | SET binding protein 1 | 2 | 2 |
AutG301 | ANXA1 | 9q21.13 | annexin A1 | 2 | 2 |
AutG6531 | SLC6A3 | 5p15.33 | solute carrier family 6 (neurotransmitter transporter, dopamine), member 3 | 2 | 2 |
AutG23167 | EFR3A | 8q24.22 | EFR3 homolog A (S. cerevisiae) | 2 | 2 |
AutG7982 | ST7 | 7q31.2 | suppression of tumorigenicity 7 | 2 | 2 |
AutG23001 | WDFY3 | 4q21.23 | WD repeat and FYVE domain containing 3 | 2 | 2 |
AutG9901 | SRGAP3 | 3p25.3 | SLIT-ROBO Rho GTPase activating protein 3 | 2 | 2 |
AutG4036 | LRP2 | 2q31.1 | low density lipoprotein receptor-related protein 2 | 2 | 2 |
AutG5781 | PTPN11 | 12q24.13 | protein tyrosine phosphatase, non-receptor type 11 | 2 | 2 |
AutG2555 | GABRA2 | 4p12 | gamma-aminobutyric acid (GABA) A receptor, alpha 2 | 2 | 2 |
AutG9318 | COPS2 | 15q21.2 | COP9 constitutive photomorphogenic homolog subunit 2 (Arabidopsis) | 2 | 2 |