This list of 55 priority genes were selected by the BCH/Harvard team in collaboration with participating sites and ClinGen. Most of these genes are suspected but not yet definitively proven to be disease genes for ID/autism. The gene set will be continuously evaluated and adjusted according to recruitment if necessary on a quarterly basis. New gene submissions are welcome for evaluation.
ACSL4
DEAF1
KDM5C
PTEN
SYP
AFF3
DNMT3A
KIF4A
RBFOX1
TAF1
ARHGEF6
ELP2
MBD5
RBM10
TAF2
ARHGEF9
FTSJ1
MED17
RPL10
TBL1XR1
ASH1L
GABRA5
MED23
SETBP1
TBX1
CHAMP1
GDI1
MYT1L
SETD5
TSPAN7
CHD4
GTF2I
NKAP
SHROOM4
TUBB3
CHRNA2
HEPACAM
NLGN3
SLC6A1
WAC
CHRNB2
HIVEP2
NSUN2
SLC6A4
ZBTB18
CTCF
HNRNPH2
OPHN1
SPAST
ZMYND11
CUL4B
HNRNPU
PPP2R1A
SYN1
ZNF711