Table 1.
Genes evaluated by the ClinGen ID/Autism GCEP as of September 2021 organized by classification
Classifications | Genes (N = 156) |
---|---|
| |
Definitive (n = 117) | ADNP, ADSL, AFF2, ALDH5A1, ANK2, ANKRD11, AP1S2, AP4B1, AP4E1, AP4M1, ARID1A, ARID1B, ARX, ASXL1, ASXL2, ATP6AP2, ATP7A, ATRX, AUTS2, BCL11A, BRSD2, BRWD3, CASK, CC2D1A, CHD8, CLCN4, CNKSR2, CRADD, CREBBP, CTCF, CTNNB1, CUL3, CUL4B, DDX3X, DHCR7, DKC1, DLG3, DYRK1A, EHMT1, FGD1, FLNA, FMR1, FOLR1, FOXP1, FOXP2, GNAI1, GPC3, GRIA3, HCFC1, HDAC8, HOXA1, HPRT1, HUWE1, IDS, IL1RAPL1, IQSEC2, KDM5C, KIF1A, L1CAM, MAN1B1, MAOA, MBTPS2, MED12, MED13L, MEF2C, MID1, MYT1L, NAA10, NBEA, NDP, NEXMIF, NHS, NIPBL, NLGN4X, NR4A2, NRXN1, NSD1, OCRL, OFD1, PACS1, PAK3, PHF6, PHF8, PLP1, POGZ, PORCN, PQBP1, PTCHD1, RAB39B, RAD21, RAI1, RPS6KA3, SATB2, SETBP1, SETBP1, SHANK2, SHANK3, SLC16A2, SLC2A1, SMARCA2, SMARCA4, SMC1A, SMC3, SMS, TAOK1, TBL1XR1, TBR1, TNRC6B, TRAPPC9, TUSC3, UBE2A, UPF3B, VPS13B, ZC4H2, ZDHHC9, ZEB2, ZNF292 |
Moderate (n = 17) | ACSL4, ANK3, ARHGEF9, CRBN, FTSJ1, GDI1, MBD5, MED23, NLGN3, NSDHL, NSUN2, RPL10, ST3GAL3, SYN1, SYP, TSPAN7, ZNF711 |
Limited (n = 3) | CACNG2, LAS1L, NTNG1 |
Disputed (n = 19) | AGTR2, ARHGEF6, CDH15, CLIC2, CNTNAP2, DPP6, EN2, IGBP1, KATNAL2, LAMC3, MET, RELN, SLC6A4, SLC9A9, SHROOM4, ZDHHC15, ZNF41, ZNF674, ZNF81 |
Please see Supplemental Table 1 for full detail on the conditions/modes of inheritance.
ClinGen, Clinical Genome Resource; GCEP, Gene Curation Expert Panel; ID, intellectual disability.