NGS de novo Mutation Related Gene List
Gene ID | Gene Symbol | Band | Gene Name | #de novo Studies | Score |
---|---|---|---|---|---|
AutG5728 | PTEN | 10q23.31 | phosphatase and tensin homolog | 3 | 3 |
AutG9378 | NRXN1 | 2p16.3 | neurexin 1 | 4 | 3 |
AutG57680 | CHD8 | 14q11.2 | chromodomain helicase DNA binding protein 8 | 4 | 3 |
AutG6326 | SCN2A | 2q24.3 | sodium channel, voltage-gated, type II, alpha subunit | 4 | 3 |
AutG1106 | CHD2 | 15q26.1 | chromodomain helicase DNA binding protein 2 | 5 | 3 |
AutG2904 | GRIN2B | 12p13.1 | glutamate receptor, ionotropic, N-methyl D-aspartate 2B | 3 | 3 |
AutG288 | ANK3 | 10q21.2 | ankyrin 3, node of Ranvier (ankyrin G) | 3 | 3 |
AutG57496 | MKL2 | 16p13.12 | MKL/myocardin-like 2 | 3 | 3 |
AutG26058 | GIGYF2 | 2q37.1 | GRB10 interacting GYF protein 2 | 3 | 3 |
AutG10319 | LAMC3 | 9q34.12 | laminin, gamma 3 | 4 | 3 |
AutG23304 | UBR2 | 6p21.1 | ubiquitin protein ligase E3 component n-recognin 2 | 3 | 3 |
AutG6529 | SLC6A1 | 3p25.3 | solute carrier family 6 (neurotransmitter transporter, GABA), member 1 | 4 | 3 |
AutG6540 | SLC6A13 | 12p13.33 | solute carrier family 6 (neurotransmitter transporter, GABA), member 13 | 3 | 3 |
AutG287 | ANK2 | 4q25-q26 | ankyrin 2, neuronal | 3 | 3 |
AutG84623 | KIRREL3 | 11q24.2 | kin of IRRE like 3 (Drosophila) | 3 | 3 |
AutG1105 | CHD1 | 5q15-q21.1 | chromodomain helicase DNA binding protein 1 | 3 | 3 |
AutG343450 | KCNT2 | 1q31.3 | potassium channel, subfamily T, member 2 | 3 | 3 |
AutG10716 | TBR1 | 2q24.2 | T-box, brain, 1 | 4 | 3 |
AutG5649 | RELN | 7q22.1 | reelin | 2 | 2 |
AutG85358 | SHANK3 | 22q13.33 | SH3 and multiple ankyrin repeat domains 3 | 2 | 2 |