Gene Scoring / Category S 102 genes

Database updated on July 10, 2017

Gene Symbol	Gene Name	Chromosome	Genetic Category	Gene Score	Syndromic	reports
ATP1A3	ATPase Na+/K+ transporting subunit alpha 3	19	Rare Single Gene Mutation, Syndromic, Functional	–	S	8
CHKB	Choline kinase beta	22	Rare Single Gene Mutation, Syndromic	–	S	4
CNOT3	CCR4-NOT transcription complex subunit 3	19	Rare Single Gene Mutation, Syndromic	3	S	3
DMPK	dystrophia myotonica-protein kinase	19	Rare Single Gene Mutation, Syndromic	–	S	7
HCN1	Hyperpolarization activated cyclic nucleotide-gated potassium channel 1	5	Rare Single Gene Mutation	–	S	5
IQSEC2	IQ motif and Sec7 domain 2	X	Rare Single Gene Mutation, Syndromic	4	S	14
ADNP	Activity-dependent neuroprotector homeobox	20	Rare Single Gene Mutation, Syndromic	1	S	20
ALDH5A1	aldehyde dehydrogenase 5 family, member A1 (succinate-semialdehyde dehydrogenase )	6	Rare Single Gene Mutation, Syndromic	–	S	9
ALG6	ALG6, alpha-1,3-glucosyltransferase	1	Syndromic	–	S	1
ARID1B	AT rich interactive domain 1B (SWI1-like)	6	Rare Single Gene Mutation, Syndromic	1	S	28
DYRK1A	Dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A	21	Rare Single Gene Mutation, Syndromic	1	S	30
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
EP300	E1A binding protein p300	22	Rare Single Gene Mutation, Syndromic	4	S	13
GATM	Glycine amidinotransferase (L-arginine:glycine amidinotransferase)Â	15	Syndromic	–	S	2
HDAC4	histone deacetylase 4	2	Rare Single Gene Mutation, Syndromic, Genetic Association	–	S	12
HOXA1	homeobox A1	7	Rare Single Gene Mutation, Syndromic, Genetic Association	–	S	15
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
DEAF1	DEAF1 transcription factor	11	Rare Single Gene Mutation, Syndromic	2	S	11
DMD	dystrophin (muscular dystrophy, Duchenne and Becker types)	X	Rare Single Gene Mutation, Syndromic, Genetic Association	–	S	34
EHMT1	Euchromatic histone-lysine N-methyltransferase 1	9	Rare Single Gene Mutation, Syndromic	3	S	19
FMR1	fragile X mental retardation 1	X	Rare Single Gene Mutation, Syndromic, Genetic Association, Functional	–	S	39
HERC2	HECT and RLD domain containing E3 ubiquitin protein ligase 2	15	Rare Single Gene Mutation	–	S	6
KAT6A	K(lysine) acetyltransferase 6A	8	Rare Single Gene Mutation, Syndromic	3	S	7
ANKRD11	ankyrin repeat domain 11	16	Rare Single Gene Mutation, Syndromic	2	S	31
ARX	aristaless related homeobox	X	Rare Single Gene Mutation, Syndromic	–	S	13
ASXL3	Additional sex combs like 3 (Drosophila)	18	Rare Single Gene Mutation, Syndromic	1	S	12
CHD2	Chromodomain helicase DNA binding protein 2	15	Rare Single Gene Mutation, Syndromic	2	S	22
CHD7	chromodomain helicase DNA binding protein 7	8	Rare Single Gene Mutation, Syndromic	–	S	20
CHD8	chromodomain helicase DNA binding protein 8	14	Rare Single Gene Mutation	1	S	24
DDX3X	DEAD (Asp-Glu-Ala-Asp) box helicase 3, X-linked	X	Rare Single Gene Mutation, Syndromic	2	S	9
DHCR7	7-dehydrocholesterol reductase	11	Rare Single Gene Mutation, Syndromic	–	S	12
HEPACAM	hepatic and glial cell adhesion molecule	11	Rare Single Gene Mutation, Syndromic	–	S	7
AHDC1	AT-hook DNA binding motif containing 1	1	Rare Single Gene Mutation, Syndromic	3	S	7
BCL11A	B-cell CLL/lymphoma 11A (zinc finger protein)	2	Rare Single Gene Mutation, Syndromic	2	S	12
CIC	capicua transcriptional repressor	19	Rare Single Gene Mutation, Functional	2	S	4
CNKSR2	connector enhancer of kinase suppressor of Ras 2	X	Syndromic	3	S	1
CNTNAP2	contactin associated protein-like 2	7	Rare Single Gene Mutation, Syndromic, Genetic Association	2	S	55
BRAF	v-raf murine sarcoma viral oncogene homolog B	7	Rare Single Gene Mutation, Syndromic	–	S	7
MBOAT7	membrane bound O-acyltransferase domain containing 7	19	Rare Single Gene Mutation, Syndromic	2	S	2
MECP2	Methyl CpG binding protein 2	X	Rare Single Gene Mutation, Syndromic, Functional	2	S	63
NF1	neurofibromin 1 (neurofibromatosis, von Recklinghausen disease, Watson disease)	17	Rare Single Gene Mutation, Syndromic, Genetic Association	–	S	21
NR2F1	nuclear receptor subfamily 2 group F member 1	5	Rare Single Gene Mutation, Syndromic	4	S	9
PSMD12	proteasome 26S subunit, non-ATPase 12	17	Syndromic	–	S	1
PTEN	phosphatase and tensin homolog (mutated in multiple advanced cancers 1)	10	Rare Single Gene Mutation, Syndromic	1	S	43
RPS6KA3	Ribosomal protein S6 kinase, 90kDa, polypeptide 3	X	Rare Single Gene Mutation, Syndromic	4	S	9
SLC45A1	solute carrier family 45 member 1	1	Rare Single Gene Mutation, Syndromic	–	S	2
MBD5	Methyl-CpG binding domain protein 5	2	Rare Single Gene Mutation, Syndromic	3	S	27
RAI1	retinoic acid induced 1	17	Rare Single Gene Mutation, Syndromic	–	S	16
SCN1A	sodium channel, voltage-gated, type I, alpha subunit	2	Rare Single Gene Mutation, Syndromic, Genetic Association	3	S	40
SLC1A2	Solute carrier family 1 (glial high affinity glutamate transporter), member 2	11	Rare Single Gene Mutation, Genetic Association, Functional	–	S	6
MEF2C	myocyte enhancer factor 2C	5	Rare Single Gene Mutation, Syndromic, Functional	4	S	25
NSD1	nuclear receptor binding SET domain protein 1	5	Rare Single Gene Mutation, Syndromic	–	S	12
PCDH19	protocadherin 19	X	Rare Single Gene Mutation, Syndromic	–	S	18
SATB2	SATB homeobox 2	2	Rare Single Gene Mutation, Syndromic	4	S	17
SGSH	N-sulfoglucosamine sulfohydrolase	17	Syndromic	–	S	4
SMARCA2	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2	9	Rare Single Gene Mutation, Syndromic, Genetic Association	–	S	11
SOX5	SRY (sex determining region Y)-box 5	12	Rare Single Gene Mutation	–	S	9
MAGEL2	MAGE-like 2	15	Rare Single Gene Mutation, Syndromic	2	S	9
PCCA	propionyl-CoA carboxylase alpha subunit	13	Syndromic	–	S	9
PCCB	propionyl-CoA carboxylase beta subunit	3	Syndromic	–	S	7
PPM1D	protein phosphatase, Mg2+/Mn2+ dependent 1D	17	Rare Single Gene Mutation, Syndromic	–	S	2
PTPN11	protein tyrosine phosphatase, non-receptor type 11	12	Rare Single Gene Mutation, Syndromic	4	S	9
RERE	Arginine-glutamic acid dipeptide (RE) repeats	1	Rare Single Gene Mutation, Syndromic	4	S	4
SETD5	SET domain containing 5	3	Rare Single Gene Mutation, Syndromic	1	S	16
SLC9A6	solute carrier family 9 (sodium/hydrogen exchanger), member 6	X	Rare Single Gene Mutation, Syndromic, Functional	–	S	11
KMT2A	Lysine (K)-specific methyltransferase 2A	11	Rare Single Gene Mutation, Syndromic	1	S	12
NIPBL	Nipped-B homolog (Drosophila)	5	Rare Single Gene Mutation, Syndromic	–	S	7
PAX6	Paired box 6	11	Rare Single Gene Mutation, Syndromic, Functional	–	S	6
POGZ	Pogo transposable element with ZNF domain	1	Rare Single Gene Mutation, Syndromic	1	S	21
PPP2R5D	Protein phosphatase 2, regulatory subunit B', delta	6	Rare Single Gene Mutation, Syndromic	4	S	8
SIN3A	SIN3 transcription regulator family member AÂ	15	Rare Single Gene Mutation, Syndromic	4	S	5
SNX14	Sorting nexin 14	6	Rare Single Gene Mutation, Syndromic	–	S	4
NACC1	nucleus accumbens associated 1	19	Rare Single Gene Mutation, Syndromic	4	S	3
PACS1	phosphofurin acidic cluster sorting protein 1	11	Syndromic	–	S	4
PIK3R2	Phosphoinositide-3-kinase, regulatory subunit 2 (beta)	19	Rare Single Gene Mutation, Syndromic	–	S	3
PRODH	Proline dehydrogenase (oxidase) 1	22	Syndromic, Genetic Association	3	S	5
SHANK3	SH3 and multiple ankyrin repeat domains 3	22	Rare Single Gene Mutation, Syndromic, Genetic Association, Functional	1	S	60
NFIX	nuclear factor I/X (CCAAT-binding transcription factor)	19	Rare Single Gene Mutation, Syndromic	–	S	5
PRKD1	Protein kinase D1	14	Rare Single Gene Mutation, Syndromic	–	S	4
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 135Â	17	Syndromic, Genetic Association	4	S	2
TCF4	Transcription factor 4	18	Rare Single Gene Mutation, Syndromic, Genetic Association	–	S	31
TRIP12	Thyroid hormone receptor interactor 12	2	Rare Single Gene Mutation, Syndromic	1	S	12
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
ZNF462	Zinc finger protein 462	9	Rare Single Gene Mutation, Syndromic	4	S	6
STXBP1	Syntaxin binding protein 1	9	Rare Single Gene Mutation, Syndromic	3	S	24
SYNGAP1	synaptic Ras GTPase activating protein 1	6	Rare Single Gene Mutation, Syndromic	1	S	38
WAC	WW domain containing adaptor with coiled-coil	10	Rare Single Gene Mutation, Syndromic	2	S	13
YY1	YY1Â transcription factor	14	Syndromic, Functional	–	S	3
ZBTB20	Zinc finger and BTB domain containing 20	3	Rare Single Gene Mutation, Syndromic	3	S	16
STAG1	stromal antigen 1	3	Syndromic	–	S	1
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
UBE3A	ubiquitin protein ligase E3A	15	Rare Single Gene Mutation, Syndromic, Genetic Association	3	S	24
UPF3B	UPF3 regulator of nonsense transcripts homolog B (yeast)	X	Rare Single Gene Mutation, Syndromic	2	S	11
VPS13B	vacuolar protein sorting 13 homolog B (yeast)	8	Rare Single Gene Mutation, Syndromic	–	S	16
UNC13A	unc-13 homolog A	19	Rare Single Gene Mutation, Syndromic	4	S	3