Gene Scoring / Category S 97 genes

Database updated on July 10, 2017

Gene Symbol	Gene Name	Chromosome	Genetic Category	Gene Score	Syndromic	reports
C12orf57	Chromosome 12 open reading frame 57	12	Rare Single Gene Mutation, Syndromic	–	S	8
CACNA1C	calcium channel, voltage-dependent, L type, alpha 1C subunit	12	Rare Single Gene Mutation, Syndromic, Genetic Association	–	S	37
DDX3X	DEAD (Asp-Glu-Ala-Asp) box helicase 3, X-linked	X	Rare Single Gene Mutation	3	S	4
DEAF1	DEAF1 transcription factor	11	Rare Single Gene Mutation, Syndromic	2	S	11
DHCR7	7-dehydrocholesterol reductase	11	Rare Single Gene Mutation, Syndromic	–	S	12
DYRK1A	Dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A	21	Rare Single Gene Mutation, Syndromic	1	S	28
GATM	Glycine amidinotransferase (L-arginine:glycine amidinotransferase)ÃÂ	15	Syndromic	–	S	2
ADNP	Activity-dependent neuroprotector homeobox	20	Rare Single Gene Mutation, Syndromic	1	S	18
ALDH5A1	aldehyde dehydrogenase 5 family, member A1 (succinate-semialdehyde dehydrogenase )	6	Rare Single Gene Mutation, Syndromic	–	S	9
ARID1B	AT rich interactive domain 1B (SWI1-like)	6	Rare Single Gene Mutation, Syndromic	1	S	23
DMD	dystrophin (muscular dystrophy, Duchenne and Becker types)	X	Rare Single Gene Mutation, Syndromic, Genetic Association	–	S	34
HCN1	Hyperpolarization activated cyclic nucleotide-gated potassium channel 1	5	Rare Single Gene Mutation	–	S	5
ALG6	ALG6, alpha-1,3-glucosyltransferase	1	Syndromic	–	S	1
ASXL3	Additional sex combs like 3 (Drosophila)	18	Rare Single Gene Mutation, Syndromic	1	S	8
CHD2	Chromodomain helicase DNA binding protein 2	15	Rare Single Gene Mutation, Syndromic	2	S	18
CHD7	chromodomain helicase DNA binding protein 7	8	Rare Single Gene Mutation, Syndromic	–	S	17
CHKB	Choline kinase beta	22	Rare Single Gene Mutation, Syndromic	–	S	3
EHMT1	Euchromatic histone-lysine N-methyltransferase 1	9	Rare Single Gene Mutation, Syndromic	3	S	16
HOXA1	homeobox A1	7	Rare Single Gene Mutation, Syndromic, Genetic Association	–	S	15
ADSL	adenylosuccinate lyase	22	Rare Single Gene Mutation, Syndromic	–	S	5
AHI1	Abelson helper integration site 1	6	Rare Single Gene Mutation, Syndromic, Genetic Association	–	S	18
CDKL5	cyclin-dependent kinase-like 5	X	Rare Single Gene Mutation, Syndromic	–	S	28
CNKSR2	connector enhancer of kinase suppressor of Ras 2	X		3	S	1
DMPK	dystrophia myotonica-protein kinase	19	Rare Single Gene Mutation, Syndromic	–	S	7
HDAC4	histone deacetylase 4	2	Rare Single Gene Mutation, Syndromic, Genetic Association	–	S	11
HERC2	HECT and RLD domain containing E3 ubiquitin protein ligase 2	15	Rare Single Gene Mutation	–	S	6
ATP1A3	ATPase Na+/K+ transporting subunit alpha 3	19	Rare Single Gene Mutation, Syndromic, Functional	–	S	8
BCL11A	B-cell CLL/lymphoma 11A (zinc finger protein)	2	Rare Single Gene Mutation, Syndromic	2	S	11
CNTNAP2	contactin associated protein-like 2	7	Rare Single Gene Mutation, Syndromic, Genetic Association	2	S	54
EP300	E1A binding protein p300	22	Rare Single Gene Mutation, Syndromic	4	S	13
FMR1	fragile X mental retardation 1	X	Rare Single Gene Mutation, Syndromic, Genetic Association, Functional	–	S	39
AHDC1	AT-hook DNA binding motif containing 1	1	Rare Single Gene Mutation, Syndromic	3	S	6
ANKRD11	ankyrin repeat domain 11	16	Rare Single Gene Mutation, Syndromic	2	S	27
BRAF	v-raf murine sarcoma viral oncogene homolog B	7	Rare Single Gene Mutation, Syndromic	–	S	7
CHD8	chromodomain helicase DNA binding protein 8	14	Rare Single Gene Mutation	1	S	22
CNOT3	CCR4-NOT transcription complex subunit 3	19	Rare Single Gene Mutation	4	S	2
IQSEC2	IQ motif and Sec7 domain 2	X	Rare Single Gene Mutation, Syndromic	4	S	13
KAT6A	K(lysine) acetyltransferase 6A	8	Rare Single Gene Mutation, Syndromic	3	S	7
ARX	aristaless related homeobox	X	Rare Single Gene Mutation, Syndromic	–	S	12
HEPACAM	hepatic and glial cell adhesion molecule	11	Rare Single Gene Mutation, Syndromic	–	S	7
PCCB	propionyl-CoA carboxylase beta subunit	3	Syndromic	–	S	7
MBD5	Methyl-CpG binding domain protein 5	2	Rare Single Gene Mutation, Syndromic	3	S	25
PCCA	propionyl-CoA carboxylase alpha subunit	13	Syndromic	–	S	9
SETD5	SET domain containing 5	3	Rare Single Gene Mutation, Syndromic	1	S	15
MAGEL2	MAGE-like 2	15	Rare Single Gene Mutation, Syndromic	2	S	7
NACC1	nucleus accumbens associated 1	19	Rare Single Gene Mutation, Syndromic	4	S	3
NF1	neurofibromin 1 (neurofibromatosis, von Recklinghausen disease, Watson disease)	17	Rare Single Gene Mutation, Syndromic, Genetic Association	–	S	21
PACS1	phosphofurin acidic cluster sorting protein 1	11	Syndromic	–	S	3
PIK3R2	Phosphoinositide-3-kinase, regulatory subunit 2 (beta)	19	Rare Single Gene Mutation, Syndromic	–	S	3
PTEN	phosphatase and tensin homolog (mutated in multiple advanced cancers 1)	10	Rare Single Gene Mutation, Syndromic	1	S	41
PTPN11	protein tyrosine phosphatase, non-receptor type 11	12	Rare Single Gene Mutation, Syndromic	4	S	9
SYNE1	spectrin repeat containing, nuclear envelope 1	6	Rare Single Gene Mutation, Genetic Association	4	S	14
TAF1	TATA-box binding protein associated factor 1	X	Rare Single Gene Mutation, Syndromic	–	S	3
MEF2C	myocyte enhancer factor 2C	5	Rare Single Gene Mutation, Syndromic, Functional	4	S	24
PAX6	Paired box 6	11	Rare Single Gene Mutation, Syndromic, Functional	–	S	6
PSMD12	proteasome 26S subunit, non-ATPase 12	17	Syndromic	–	S	1
RPS6KA3	Ribosomal protein S6 kinase, 90kDa, polypeptide 3	X	Rare Single Gene Mutation, Syndromic	4	S	9
SGSH	N-sulfoglucosamine sulfohydrolase	17	Syndromic	–	S	4
STAG1	stromal antigen 1	3	Syndromic	–	S	1
SYNGAP1	synaptic Ras GTPase activating protein 1	6	Rare Single Gene Mutation, Syndromic	1	S	34
MBOAT7	membrane bound O-acyltransferase domain containing 7	19	Rare Single Gene Mutation, Syndromic	2	S	2
NIPBL	Nipped-B homolog (Drosophila)	5	Rare Single Gene Mutation, Syndromic	–	S	6
NR2F1	nuclear receptor subfamily 2 group F member 1	5	Rare Single Gene Mutation, Syndromic	4	S	6
NSD1	nuclear receptor binding SET domain protein 1	5	Rare Single Gene Mutation, Syndromic	–	S	9
PCDH19	protocadherin 19	X	Rare Single Gene Mutation, Syndromic	–	S	17
POGZ	Pogo transposable element with ZNF domain	1	Rare Single Gene Mutation, Syndromic	1	S	20
RAI1	retinoic acid induced 1	17	Rare Single Gene Mutation, Syndromic	–	S	15
SNX14	Sorting nexin 14	6	Rare Single Gene Mutation, Syndromic	–	S	4
STXBP1	Syntaxin binding protein 1	9	Rare Single Gene Mutation, Syndromic	3	S	24
MECP2	Methyl CpG binding protein 2	X	Rare Single Gene Mutation, Syndromic, Functional	2	S	58
PRKD1	Protein kinase D1	14	Rare Single Gene Mutation, Syndromic	–	S	4
SATB2	SATB homeobox 2	2	Rare Single Gene Mutation, Syndromic	4	S	15
SLC1A2	Solute carrier family 1 (glial high affinity glutamate transporter), member 2	11	Rare Single Gene Mutation, Genetic Association, Functional	–	S	6
KMT2A	Lysine (K)-specific methyltransferase 2A	11	Rare Single Gene Mutation, Syndromic	2	S	11
PPP2R5D	Protein phosphatase 2, regulatory subunit B', delta	6	Rare Single Gene Mutation, Syndromic	4	S	6
PRODH	Proline dehydrogenase (oxidase) 1	22	Syndromic, Genetic Association	3	S	5
RERE	Arginine-glutamic acid dipeptide (RE) repeats	1	Rare Single Gene Mutation, Syndromic	4	S	4
SHANK3	SH3 and multiple ankyrin repeat domains 3	22	Rare Single Gene Mutation, Syndromic, Genetic Association, Functional	1	S	56
SIN3A	SIN3 transcription regulator family member AÃÂ	15	Rare Single Gene Mutation, Syndromic	4	S	5
SLC9A6	solute carrier family 9 (sodium/hydrogen exchanger), member 6	X	Rare Single Gene Mutation, Syndromic, Functional	–	S	11
SMARCA2	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2	9	Rare Single Gene Mutation, Syndromic, Genetic Association	–	S	9
SOX5	SRY (sex determining region Y)-box 5	12	Rare Single Gene Mutation	–	S	8
TCF4	Transcription factor 4	18	Rare Single Gene Mutation, Syndromic, Genetic Association	–	S	28
NFIX	nuclear factor I/X (CCAAT-binding transcription factor)	19	Rare Single Gene Mutation, Syndromic	–	S	4
SCN1A	sodium channel, voltage-gated, type I, alpha subunit	2	Rare Single Gene Mutation, Syndromic, Genetic Association	–	S	38
NTNG1	netrin G1	1	Rare Single Gene Mutation, Syndromic, Genetic Association	4	S	8
OCRL	oculocerebrorenal syndrome of Lowe	X	Syndromic	–	S	4
RNF135	Ring finger protein 135ÃÂ	17	Syndromic, Genetic Association	4	S	2
TSC1	tuberous sclerosis 1	9	Rare Single Gene Mutation, Syndromic	–	S	16
TSC2	tuberous sclerosis 2	16	Rare Single Gene Mutation, Syndromic, Genetic Association	–	S	23
UBE3A	ubiquitin protein ligase E3A	15	Rare Single Gene Mutation, Syndromic, Genetic Association	3	S	23
VPS13B	vacuolar protein sorting 13 homolog B (yeast)	8	Rare Single Gene Mutation, Syndromic	–	S	16
WAC	WW domain containing adaptor with coiled-coil	10	Rare Single Gene Mutation, Syndromic	2	S	9
ZBTB20	Zinc finger and BTB domain containing 20	3	Rare Single Gene Mutation, Syndromic	3	S	15
TRIP12	Thyroid hormone receptor interactor 12	2	Rare Single Gene Mutation, Syndromic	1	S	12
UNC13A	unc-13 homolog A	19	Rare Single Gene Mutation, Syndromic	4	S	3
UPF3B	UPF3 regulator of nonsense transcripts homolog B (yeast)	X	Rare Single Gene Mutation, Syndromic	–	S	10