Category 2 - SFARI Gene

Gene Symbol	Gene Name	Chromosome	Genetic Category	Gene Score	Syndromic	reports
ANKRD11	ankyrin repeat domain 11	16	Rare Single Gene Mutation, Syndromic	2	S	41
BAZ2B	bromodomain adjacent to zinc finger domain 2B	2	Rare Single Gene Mutation	2		3
BCKDK	Branched chain ketoacid dehydrogenase kinase	16	Rare Single Gene Mutation	2		3
BCL11A	B-cell CLL/lymphoma 11A (zinc finger protein)	2	Rare Single Gene Mutation, Syndromic	2	S	16
CACNA1D	calcium channel, voltage-dependent, L type, alpha 1D	3	Rare Single Gene Mutation, Syndromic, Genetic Association, Functional	2		18
CACNA1H	calcium channel, voltage-dependent, alpha 1H subunit	16	Rare Single Gene Mutation	2		23
CACNA2D3	Calcium channel, voltage-dependent, alpha 2/delta subunit 3	3	Rare Single Gene Mutation	2		6
CEP41	testis specific, 14	7	Rare Single Gene Mutation, Syndromic	2		5
CIC	capicua transcriptional repressor	19	Rare Single Gene Mutation, Functional	2	S	5
CNOT3	CCR4-NOT transcription complex subunit 3	19	Rare Single Gene Mutation, Syndromic	2	S	5
CNTN4	contactin 4	3	Rare Single Gene Mutation, Syndromic, Genetic Association	2		21
CNTNAP2	contactin associated protein-like 2	7	Rare Single Gene Mutation, Syndromic, Genetic Association	2	S	64
CTNND2	Catenin (cadherin-associated protein), delta 2	5	Rare Single Gene Mutation	2		5
CUX1	cut like homeobox 1	7	Rare Single Gene Mutation, Functional	2		6
DDX3X	DEAD (Asp-Glu-Ala-Asp) box helicase 3, X-linked	X	Rare Single Gene Mutation, Syndromic	2	S	15
DEAF1	DEAF1 transcription factor	11	Rare Single Gene Mutation, Syndromic	2	S	16
DIP2C	disco interacting protein 2 homolog C	10	Rare Single Gene Mutation	2		2
ERBIN	erbb2 interacting protein	5	Rare Single Gene Mutation	2		5
FOXP1	forkhead box P1	3	Rare Single Gene Mutation, Syndromic, Genetic Association, Functional	2	S	44
GABRB3	gamma-aminobutyric acid (GABA) A receptor, beta 3	15	Rare Single Gene Mutation, Genetic Association	2		37
GIGYF2	GRB10 interacting GYF protein 2	2	Rare Single Gene Mutation	2		7
GRIA1	glutamate ionotropic receptor AMPA type subunit 1	5	Rare Single Gene Mutation	2		5
GRIP1	glutamate receptor interacting protein 1	12	Rare Single Gene Mutation	2		12
ILF2	Interleukin enhancer binding factor 2	1	Rare Single Gene Mutation	2		4
INTS6	Integrator complex subunit 6	13	Rare Single Gene Mutation	2		4
IRF2BPL	Interferon regulatory factor 2 binding protein-like	14	Rare Single Gene Mutation, Syndromic	2	S	5
KAT2B	K(lysine) acetyltransferase 2B	3	Rare Single Gene Mutation	2		6
KDM5B	Lysine (K)-specific demethylase 5B	1	Rare Single Gene Mutation, Syndromic, Functional	2		12
KDM6A	lysine demethylase 6A	X	Rare Single Gene Mutation, Syndromic	2		6
KMT2C	Lysine (K)-specific methyltransferase 2C	7	Rare Single Gene Mutation, Syndromic	2	S	15
LEO1	LEO1 homolog, Paf1/RNA polymerase II complex component	15	Rare Single Gene Mutation	2		3
MACROD2	MACRO domain containing 2	20	Rare Single Gene Mutation, Genetic Association	2		19
MAGEL2	MAGE-like 2	15	Rare Single Gene Mutation, Syndromic	2	S	15
MBOAT7	membrane bound O-acyltransferase domain containing 7	19	Rare Single Gene Mutation, Syndromic	2	S	3
MECP2	Methyl CpG binding protein 2	X	Rare Single Gene Mutation, Syndromic, Functional	2	S	75
MED13	mediator complex subunit 13	17	Rare Single Gene Mutation, Syndromic	2	S	4
MED13L	Mediator complex subunit 13-like	12	Rare Single Gene Mutation, Syndromic	2	S	27
MET	met proto-oncogene (hepatocyte growth factor receptor)	7	Rare Single Gene Mutation, Genetic Association, Functional	2		37
NCKAP1	NCK-associated protein 1	2	Rare Single Gene Mutation	2		7
NCOR1	nuclear receptor corepressor 1	17	Rare Single Gene Mutation, Functional	2		6
NLGN3	neuroligin 3	X	Rare Single Gene Mutation	2		32
NRXN1	neurexin 1	2	Rare Single Gene Mutation, Syndromic, Genetic Association	2		78
MSNP1AS	Moesinpseudogene 1, antisense	5	Genetic Association, Functional	2		12
PHF3	PHD finger protein 3	6	Rare Single Gene Mutation	2		2
PTCHD1	patched domain containing 1	X	Rare Single Gene Mutation, Genetic Association	2		11
RANBP17	RAN binding protein 17	5	Rare Single Gene Mutation	2		5
RIMS1	Regulating synaptic membrane exocytosis 1	6	Rare Single Gene Mutation, Genetic Association	2		6
SCN9A	sodium voltage-gated channel alpha subunit 9	2	Rare Single Gene Mutation	2		5
SHANK2	SH3 and multiple ankyrin repeat domains 2	11	Rare Single Gene Mutation, Syndromic, Genetic Association, Functional	2		32
SET	SETnuclear proto-oncogene	9	Rare Single Gene Mutation	2		4
SLC6A1	Solute carrier family 6 (neurotransmitter transporter), member 1	3	Rare Single Gene Mutation, Syndromic, Genetic Association	2	S	20
SMARCC2	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2	12	Rare Single Gene Mutation, Syndromic, Functional	2	S	10
SPAST	Spastin	2	Rare Single Gene Mutation	2		9
SRCAP	Snf2 related CREBBP activator protein	16	Rare Single Gene Mutation	2		5
SRSF11	serine and arginine rich splicing factor 11	1	Rare Single Gene Mutation	2		4
TAOK2	TAO kinase 2	16	Rare Single Gene Mutation, Functional	2		5
TBL1XR1	transducin beta like 1 X-linked receptor 1	3	Rare Single Gene Mutation, Syndromic	2		18
TCF20	Transcription factor 20 (AR1)	22	Rare Single Gene Mutation, Syndromic	2	S	10
TNRC6B	Trinucleotide repeat containing 6B	22	Rare Single Gene Mutation	2		7
TRIO	Trio Rho guanine nucleotide exchange factor	5	Rare Single Gene Mutation, Syndromic	2		22
UBN2	ubinuclein 2	7	Rare Single Gene Mutation	2		3
UPF3B	UPF3B, regulator of nonsense mediated mRNA decay	X	Rare Single Gene Mutation, Syndromic	2	S	12
USP15	ubiquitin specific peptidase 15	12	Rare Single Gene Mutation	2		3
USP7	Ubiquitin specific peptidase 7 (herpes virus-associated)	16	Rare Single Gene Mutation, Syndromic	2	S	7
WAC	WW domain containing adaptor with coiled-coil	10	Rare Single Gene Mutation, Syndromic	2	S	17
WDFY3	WD repeat and FYVE domain containing 3	4	Rare Single Gene Mutation, Functional	2		14

Gene Scoring / Category 2 66 genes

Database updated on June 20, 2019