Category S - SFARI Gene

Gene Symbol	Gene Name	Chromosome	Genetic Category	Gene Score	Syndromic	reports
ACTB	actin beta	7	Rare Single Gene Mutation, Syndromic	1	S	6
ANKS1B	ankyrin repeat and sterile alpha motif domain containing 1B	12	Rare Single Gene Mutation, Syndromic	2	S	4
ARID2	AT-rich interaction domain 2	12	Rare Single Gene Mutation, Syndromic	2	S	10
ATP1A1	ATPase Na+/K+ transporting subunit alpha 1	1	Rare Single Gene Mutation, Syndromic	2	S	7
ATP1A3	ATPase Na+/K+ transporting subunit alpha 3	19	Rare Single Gene Mutation, Syndromic, Functional	2	S	20
ANKRD17	ankyrin repeat domain 17	4	Rare Single Gene Mutation, Syndromic	2	S	5
CACNA1A	Calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	19	Rare Single Gene Mutation, Genetic Association	1	S	22
CAMK2A	calcium/calmodulin dependent protein kinase II alpha	5	Rare Single Gene Mutation, Syndromic, Genetic Association, Functional	2	S	9
CEP290	Centrosomal protein 290kDa	12	Rare Single Gene Mutation, Syndromic	2	S	10
CHD1	chromodomain helicase DNA binding protein 1	5	Rare Single Gene Mutation	2	S	6
CDK19	cyclin dependent kinase 19	6	Rare Single Gene Mutation, Syndromic	3	S	5
CELF2	CUGBP Elav-like family member 2	10	Rare Single Gene Mutation, Syndromic	2	S	3
CLCN4	chloride voltage-gated channel 4	X	Rare Single Gene Mutation, Syndromic	2	S	8
CNKSR2	connector enhancer of kinase suppressor of Ras 2	X	Rare Single Gene Mutation, Syndromic, Functional	2	S	11
CNTNAP2	contactin associated protein-like 2	7	Rare Single Gene Mutation, Syndromic, Genetic Association, Functional	2	S	79
CUX2	cut like homeobox 2	12	Rare Single Gene Mutation, Syndromic	2	S	9
DLL1	delta like canonical Notch ligand 1	6	Rare Single Gene Mutation, Syndromic	2	S	3
ELP2	elongator acetyltransferase complex subunit 2	18	Syndromic	2	S	6
FBXO11	F-box protein 11	2	Rare Single Gene Mutation, Syndromic	2	S	8
GABBR2	gamma-aminobutyric acid type B receptor subunit 2	9	Rare Single Gene Mutation, Syndromic, Functional	2	S	13
FGF13	fibroblast growth factor 13	X	Syndromic	3	S	2
HDAC4	histone deacetylase 4	2	Rare Single Gene Mutation, Syndromic, Genetic Association	2	S	16
HERC1	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	15	Rare Single Gene Mutation, Syndromic, Functional	2	S	10
HNRNPD	heterogeneous nuclear ribonucleoprotein D	4	Rare Single Gene Mutation	2	S	4
HNRNPK	heterogeneous nuclear ribonucleoprotein K	9	Rare Single Gene Mutation, Syndromic	2	S	11
HNRNPR	heterogeneous nuclear ribonucleoprotein R	1	Rare Single Gene Mutation	2	S	5
HNRNPUL2	heterogeneous nuclear ribonucleoprotein U like 2	11	Rare Single Gene Mutation	2	S	3
KAT6A	K(lysine) acetyltransferase 6A	8	Rare Single Gene Mutation, Syndromic, Functional	2	S	22
KIF5C	Kinesin family member 5C	2	Rare Single Gene Mutation, Syndromic, Functional	2	S	11
KIF1A	kinesin family member 1A	2	Rare Single Gene Mutation, Syndromic	2	S	7
MED12L	mediator complex subunit 12L	3	Rare Single Gene Mutation, Syndromic	2	S	4
MSL3	MSL complex subunit 3	X	Rare Single Gene Mutation, Syndromic	2	S	6
NFIB	nuclear factor I B	9	Rare Single Gene Mutation, Syndromic	2	S	5
NR2F1	nuclear receptor subfamily 2 group F member 1	5	Rare Single Gene Mutation, Syndromic, Functional	2	S	21
NTNG1	netrin G1	1	Rare Single Gene Mutation, Syndromic, Genetic Association	2	S	8
NSD2	nuclear receptor binding SET domain protein 2	4	Rare Single Gene Mutation, Syndromic	2	S	10
PCCB	propionyl-CoA carboxylase beta subunit	3	Rare Single Gene Mutation, Syndromic	1	S	9
PPM1D	protein phosphatase, Mg2+/Mn2+ dependent 1D	17	Rare Single Gene Mutation, Syndromic	2	S	8
PRODH	Proline dehydrogenase (oxidase) 1	22	Syndromic, Genetic Association	2	S	6
POLR3A	RNA polymerase III subunit A	10	Rare Single Gene Mutation, Syndromic	3	S	8
PPP3CA	protein phosphatase 3 catalytic subunit alpha	4	Rare Single Gene Mutation, Syndromic	3	S	9
RNF135	Ring finger protein 135	17	Rare Single Gene Mutation, Syndromic, Genetic Association	2	S	4
RPS6KA3	Ribosomal protein S6 kinase, 90kDa, polypeptide 3	X	Rare Single Gene Mutation, Syndromic	2	S	13
SATB2	SATB homeobox 2	2	Rare Single Gene Mutation, Syndromic, Genetic Association	2	S	37
RFX4	regulatory factor X4	12	Rare Single Gene Mutation, Syndromic	3	S	2
RFX7	regulatory factor X7	15	Rare Single Gene Mutation, Syndromic	3	S	3
RIMS2	regulating synaptic membrane exocytosis 2	8	Rare Single Gene Mutation, Syndromic, Genetic Association	3	S	4
SETD1B	SET domain containing 1B	12	Rare Single Gene Mutation, Syndromic, Functional	2	S	16
SMARCA2	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2	9	Rare Single Gene Mutation, Syndromic, Genetic Association	1	S	23
SMC3	structural maintenance of chromosomes 3	10	Rare Single Gene Mutation, Syndromic	2	S	10
SIN3B	SIN3 transcription regulator family member B	19	Rare Single Gene Mutation, Syndromic	2	S	4
SYNE1	spectrin repeat containing, nuclear envelope 1	6	Rare Single Gene Mutation, Genetic Association	2	S	19
SPTBN1	spectrin beta, non-erythrocytic 1	2	Rare Single Gene Mutation, Syndromic	2	S	8
SUPT16H	SPT16 homolog, facilitates chromatin remodeling subunit	14	Rare Single Gene Mutation	2	S	7
TRRAP	transformation/transcription domain associated protein	7	Rare Single Gene Mutation, Syndromic	2	S	10
TTN	titin	2	Rare Single Gene Mutation, Syndromic	2	S	25
UNC13A	unc-13 homolog A	19	Rare Single Gene Mutation, Syndromic	2	S	8
USP7	Ubiquitin specific peptidase 7 (herpes virus-associated)	16	Rare Single Gene Mutation, Syndromic	2	S	8
USP9X	ubiquitin specific peptidase 9 X-linked	X	Rare Single Gene Mutation, Syndromic, Functional	1	S	11
YWHAG	tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein gamma	7	Rare Single Gene Mutation, Syndromic	3	S	9
ZMIZ1	zinc finger MIZ-type containing 1	10	Rare Single Gene Mutation, Syndromic	2	S	6
ZMYM2	zinc finger MYM-type containing 2	13	Rare Single Gene Mutation, Syndromic	2	S	6

Gene Scoring / Category S 62 genes

Database updated on February 23, 2022