Entity Name	Entity type	Gene Symbol	Sources(; separated)	Level4	Level3	Level2	Model_Of_Inheritance	Phenotypes	Omim	Orphanet	HPO	Publications	Description	Flagged	GEL_Status	UserRatings_Green_amber_red	version	ready	Mode of pathogenicity	EnsemblId(GRch37)	EnsemblId(GRch38)	HGNC	Position Chromosome	Position GRCh37 Start	Position GRCh37 End	Position GRCh38 Start	Position GRCh38 End	STR Repeated Sequence	STR Normal Repeats	STR Pathogenic Repeats	Region Haploinsufficiency Score	Region Triplosensitivity Score	Region Required Overlap Percentage	Region Variant Type	Region Verbose Name
CDH11	gene	CDH11	Expert Review Green;Literature	Intellectual disability update Jan 2018			BIALLELIC, autosomal or pseudoautosomal	Elsahy-Waters syndrome				27431290;29271567		False	3	100;0;0	0.483	True		ENSG00000140937	ENSG00000140937	HGNC:1750													
CLCN4	gene	CLCN4	Expert Review Green	Intellectual disability update Jan 2018			X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	"Mental retardation, X-linked 49/15	300114"				25644381		False	3	0;0;0	0.483	True		ENSG00000073464	ENSG00000073464	HGNC:2022													
CLTC	gene	CLTC	Expert Review Green;Gene2Phenotype	Intellectual disability update Jan 2018			MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	"Mental retardation, autosomal dominant 56, 	617854;Autosomal dominant non-syndromic intellectual disability;Epilepsy and intellectual disability"				26822784;29100083		False	3	0;0;0	0.483	True		ENSG00000141367	ENSG00000141367	HGNC:2092													
COG5	gene	COG5	Expert Review Green	Intellectual disability update Jan 2018			MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	"Congenital disorder of glycosylation, type IIi	613612"				19690088;23430875;23228021;28960046		False	3	0;0;0	0.483	True		ENSG00000164597	ENSG00000164597	HGNC:14857													
GABRG2	gene	GABRG2	BRIDGE study SPEED NEURO Tier1 Gene;Expert Review Green	Intellectual disability update Jan 2018			MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	"Epilepsy, generalized, with febrile seizures plus, type 3	611277;Febrile seizures, familial, 8	611277;{Epilepsy, childhood absence, susceptibility to, 2} 607681"				25124326;28460589		False	3	0;0;0	0.483	True		ENSG00000113327	ENSG00000113327	HGNC:4087													
GFER	gene	GFER	Expert Review Green;Radboud University Medical Center, Nijmegen	Intellectual disability update Jan 2018			BIALLELIC, autosomal or pseudoautosomal	Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay, 613076;Intellectual disability				19409522;26018198;28155230		False	3	100;0;0	0.483	True		ENSG00000127554	ENSG00000127554	HGNC:4236													
GMPPB	gene	GMPPB	Expert Review Green;Radboud University Medical Center, Nijmegen	Intellectual disability update Jan 2018			BIALLELIC, autosomal or pseudoautosomal	"Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 14	615350;Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 14	615351;Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14	615352"				23768512;26503795;24896178		False	3	0;0;0	0.483	True		ENSG00000173540	ENSG00000173540	HGNC:22932													
GPAA1	gene	GPAA1	Expert Review Green;Other	Intellectual disability update Jan 2018			BIALLELIC, autosomal or pseudoautosomal	"Glycosylphosphatidylinositol biosynthesis defect 15	617810"				29100095;24896178		False	3	0;0;0	0.483	True		ENSG00000197858	ENSG00000197858	HGNC:4446													
GRID2	gene	GRID2	BRIDGE study SPEED NEURO Tier1 Gene;Expert Review Green	Intellectual disability update Jan 2018			BIALLELIC, autosomal or pseudoautosomal	Spinocerebellar ataxia, autosomal recessive 18 616204				28856174;24078737;23611888;7792064;20395510		False	3	0;0;0	0.483	True		ENSG00000152208	ENSG00000152208	HGNC:4576													
HIVEP2	gene	HIVEP2	Expert Review Green	Intellectual disability update Jan 2018			MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Mental retardation, autosomal dominant 43, 616977;MRD43;Intellectual disability				23020937;26153216;27003583;26350204		False	3	0;0;0	0.483	True		ENSG00000010818	ENSG00000010818	HGNC:4921													
KIAA1109	gene	KIAA1109	Expert Review Green;Literature	Intellectual disability update Jan 2018			BIALLELIC, autosomal or pseudoautosomal	Brain atrophy, Dandy Walker and Contractures				25558065;29290337		False	3	100;0;0	0.483	True		ENSG00000138688	ENSG00000138688	HGNC:26953													
KMT2C	gene	KMT2C	Expert Review Green	Intellectual disability update Jan 2018			MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Kleefstra syndrome 2 617768				22726846;29069077;29276005		False	3	0;0;0	0.483	True		ENSG00000055609	ENSG00000055609	HGNC:13726													
LARGE1	gene	LARGE1	Expert Review Green;Gene2Phenotype	Intellectual disability update Jan 2018			BIALLELIC, autosomal or pseudoautosomal	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6, 613154;Muscle-eye-brain disease;MDDGA6;Walker-Warburg syndrome;Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 6, 608840;congenital muscular dystrophy-dystroglycanopathy with mental retardation;MDDGB6;Intellectual disability				12966029;19067344;17436019;19299310;21248746		False	3	0;0;0	0.483	True		ENSG00000133424	ENSG00000133424	HGNC:6511													
LONP1	gene	LONP1	Expert Review Green	Intellectual disability update Jan 2018			BIALLELIC, autosomal or pseudoautosomal	CODAS syndrome, 600373;Cerebral, ocular, dental, auricular, and skeletal anomalies syndrome				25574826;20503327		False	3	0;0;0	0.483	True		ENSG00000196365	ENSG00000196365	HGNC:9479													
MBOAT7	gene	MBOAT7	Expert Review Green;Gene2Phenotype	Intellectual disability update Jan 2018			BIALLELIC, autosomal or pseudoautosomal	Mental retardation, autosomal recessive 57, 617188;Intellectual Disability Accompanied by Epilepsy and Autistic Features;Autosomal recessive non-syndromic intellectual disability				27616480;23097495		False	3	0;0;0	0.483	True		ENSG00000125505	ENSG00000125505	HGNC:15505													
MBTPS2	gene	MBTPS2	Emory Genetics Laboratory;Expert Review Green;Radboud University Medical Center, Nijmegen	Intellectual disability update Jan 2018			X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	IFAP syndrome with or without BRESHECK syndrome,308205;Ichthyosis follicularis, atrichia, and photophobia with or without brain anomalies, retardation, ectodermal dysplasia, skeletal malformations, hirschsprung disease, ear/eye anomalies, cleft palate/cryptorchidism, and kidney dysplasia/hypoplasia				21426410;22105905;24090718;23316014;21179107;19361614		False	3	0;0;0	0.483	True		ENSG00000012174	ENSG00000012174	HGNC:15455													
MDH2	gene	MDH2	BRIDGE study SPEED NEURO Tier1 Gene;Expert Review Green	Intellectual disability update Jan 2018			BIALLELIC, autosomal or pseudoautosomal	"Epileptic encephalopathy, early infantile, 51	617339"				27989324		False	3	0;0;0	0.483	True		ENSG00000146701	ENSG00000146701	HGNC:6971													
MTOR	gene	MTOR	Expert Review Green	Intellectual disability update Jan 2018			MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Smith-Kingsmore syndrome, 616638;Intellectual Disability;Focal cortical dysplasia, type II, somatic 607341				26542245;27830187;25851998;28892148;DOI: 10.4137/JGE.S12583;27159400		False	3	100;0;0	0.483	True	Other - please provide details in the comments	ENSG00000198793	ENSG00000198793	HGNC:3942													
NDST1	gene	NDST1	Expert Review Green	Intellectual disability update Jan 2018			BIALLELIC, autosomal or pseudoautosomal	Mental retardation, autosomal recessive 46, 616116;MRT46;Intellectual disability				25125150;21937992		False	3	0;0;0	0.483	True	Other - please provide details in the comments	ENSG00000070614	ENSG00000070614	HGNC:7680													
NFIA	gene	NFIA	Expert Review Green	Intellectual disability update Jan 2018			MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Brain malformations with or without urinary tract defects, 613735;BRMUTD;Intellectual disability;Chromosome 1p32-p31 deletion syndrome, included				24462883;27081522;25714559;22031302;17530927		False	3	0;0;0	0.483	True		ENSG00000162599	ENSG00000162599	HGNC:7784													
NONO	gene	NONO	BRIDGE study SPEED NEURO Tier1 Gene;Expert Review Green	Intellectual disability update Jan 2018			X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Mental retardation, X-linked, syndromic 34, 300967;MENTAL RETARDATION, X-LINKED, SYNDROMIC, MIRCSOF-LANGOUET TYPE;MRXSML;Macrocephaly-intellectual disability-left ventricular non compaction syndrome;Syndromic intellectual disability				26571461;27329731;27329731;27550220		False	3	0;0;0	0.483	True		ENSG00000147140	ENSG00000147140	HGNC:7871													
NT5C2	gene	NT5C2	BRIDGE study SPEED NEURO Tier1 Gene;Expert Review Green	Intellectual disability update Jan 2018			BIALLELIC, autosomal or pseudoautosomal	Spastic paraplegia 45, autosomal recessive, 613162;Intellectual disability				20301682;24482476;19415352		False	3	0;0;0	0.483	True		ENSG00000076685	ENSG00000076685	HGNC:8022