SPARK Gene List
Date Revised: June 17, 2025
Below is a list of genes that SPARK uses as a starting point for looking for genetic changes that could lead to autism. Please note that not all genetic variations in these genes will change how a gene works. Learn how SPARK decides what genes to add to this list and what variants to return to participants. Genes that meet these criteria are added below after they have been returned to at least one SPARK participant.
SPARK also looks for changes to large stretches of DNA that have been linked to autism, called copy number variants. SPARK returns regions reviewed here as having “sufficient evidence” to have an impact and that are linked to neurodevelopmental conditions.
Learn more about SPARK’s genetics program. To explore our current knowledge about autism genetics, view Understanding SPARK & Genetics (PDF) and watch this SPARK webinar.
- A
- ACTB
- ACTG1
- ADNP
- AGO1
- AHDC1
- ANK2
- ANKRD11
- ANKRD17
- ARFGEF1
- ARHGEF9
- ARID1A
- ARID1B
- ARID2
- ARX
- ASH1L
- ASXL1
- ASXL2
- ASXL3
- ATRX
- AUTS2
- B
- BAZ2B
- BCL11A
- BCL11B
- BCOR
- BICRA
- BPTF
- BRAF
- BRD4
- BRPF1
- BRSK2
- BRWD3
- C
- CACNA1A
- CACNA1C
- CACNA1E
- CAMK2A
- CAMK2B
- CAMTA1
- CAPRIN1
- CASK
- CASZ1
- CBL
- CDK13
- CDKL5
- CERT1
- CHAMP1
- CHD1
- CHD2
- CHD3
- CHD4
- CHD7
- CHD8
- CIC
- CLCN3
- CLCN4
- CLTC
- CNKSR2
- CNOT1
- CNOT3
- CREBBP
- CSDE1
- CSNK2A1
- CSNK2B
- CTCF
- CTNNB1
- CTNND2
- CUL3
- CUL4B
- D
- DDB1
- DDX3X
- DEAF1
- DEPDC5
- DHX30
- DLG3
- DLG4
- DNM1
- DNMT3A
- DSCAM
- DYNC1H1
- DYRK1A
- E
- EBF3
- EED
- EEF1A2
- EFTUD2
- EHMT1
- EP300
- F
- FBXO11
- FBXW7
- FLNA
- FMR1
- FOXG1
- FOXP1
- FOXP2
- FRMPD4
- FZR1
- G
- GABBR2
- GABRB2
- GABRB3
- GABRG2
- GIGYF1
- GNAI1
- GNAO1
- GNB1
- GNB2
- GPC3
- GRIA2
- GRIN1
- GRIN2A
- GRIN2B
- H
- H3-3A
- HDAC4
- HDAC8
- HECW2
- HIVEP2
- HNRNPH2
- HNRNPK
- HNRNPU
- HRAS
- HUWE1
- I
- IL1RAPL1
- IQSEC2
- IRF2BPL
- J
- JARID2
- K
- KANSL1
- KAT6A
- KAT6B
- KCNB1
- KCNH1
- KCNMA1
- KCNQ2
- KCNQ3
- KCNQ5
- KDM1A
- KDM3B
- KDM4B
- KDM5C
- KDM6A
- KDM6B
- KIDINS220
- KIF11
- KMT2A
- KMT2B
- KMT2C
- KMT2D
- KMT2E
- KMT5B
- L
- LZTR1
- M
- MAGEL2
- MAOA
- MAP2K1
- MAPK1
- MAPK8IP3
- MBD5
- MECP2
- MED12
- MED13
- MED13L
- MEF2C
- MEIS2
- MSL3
- MTOR
- MYCN
- MYT1L
- N
- NAA15
- NACC1
- NALCN
- NBEA
- NCKAP1
- NEXMIF
- NF1
- NFIB
- NIPBL
- NR2F1
- NR4A2
- NRXN1
- NSD1
- NSD2
- NUS1
- O
- OPHN1
- P
- PACS1
- PACS2
- PAK3
- PBX1
- PCDH19
- PCGF2
- PDHA1
- PHF21A
- PHF3
- PHIP
- PIK3R2
- POGZ
- POLR2A
- POU3F3
- PPM1D
- PPP2CA
- PPP2R5D
- PPP3CA
- PQBP1
- PRR12
- PSMD12
- PTEN
- PTPN11
- PUF60
- PURA
- Q
- QRICH1
- R
- RAB39B
- RAD21
- RAF1
- RAI1
- RALA
- RERE
- RFX3
- RHOBTB2
- RORA
- RORB
- RPS6KA3
- S
- SATB1
- SATB2
- SCAF4
- SCN1A
- SCN2A
- SCN3A
- SCN8A
- SETBP1
- SETD1A
- SETD1B
- SETD2
- SETD5
- SHANK1
- SHANK2
- SHANK3
- SIN3A
- SLC2A1
- SLC6A1
- SLC6A8
- SLC9A6
- SMAD4
- SMARCA2
- SMARCA4
- SMARCC2
- SMARCD1
- SMC1A
- SMC3
- SON
- SOS1
- SOX11
- SOX5
- SOX6
- SPEN
- SPOP
- SPTAN1
- SPTBN1
- SRCAP
- SRRM2
- STAG1
- STAG2
- STXBP1
- SYNCRIP
- SYNGAP1
- SYP
- SYT1
- T
- TANC2
- TAOK1
- TBL1XR1
- TBR1
- TBX1
- TCF12
- TCF20
- TCF4
- TCF7L2
- THOC2
- TLK2
- TNRC6B
- TRAF7
- TRIM8
- TRIO
- TRIP12
- TRRAP
- TSC1
- TSC2
- TSHZ3
- TUBA1A
- TUBB3
- U
- UBE3A
- UBTF
- UPF1
- UPF3B
- USP7
- USP9X
- W
- WAC
- WASF1
- WDFY3
- WDR26
- WDR45
- Y
- YWHAG
- YY1
- Z
- ZBTB20
- ZEB2
- ZIC2
- ZMIZ1
- ZMYM2
- ZMYND11
- ZMYND8
- ZNF292
- ZNF462
- ZNF711
- ZSWIM6