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
CLCN2	gene	CLCN2	BRIDGE study SPEED NEURO Tier1 Gene;Expert Review Amber	Intellectual disability update Jan 2018			BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Leukoencephalopathy with ataxia, 615651;{Epilepsy, juvenile myoclonic, susceptibility to, 8}, 607628;{Epilepsy, juvenile absence, susceptibility to, 2}, 607628;{Epilepsy, idiopathic generalized, susceptibility to, 11}, 607628				23707145;19191339		False	2	0;0;0	0.483	True		ENSG00000114859	ENSG00000114859	HGNC:2020													
GBA2	gene	GBA2	Expert Review Amber	Intellectual disability update Jan 2018			BIALLELIC, autosomal or pseudoautosomal	"Spastic paraplegia 46, autosomal recessive	614409"				23332916;23332917;24252062;28052128		False	2	0;0;0	0.483	True		ENSG00000070610	ENSG00000070610	HGNC:18986													
GJB1	gene	GJB1	Expert Review Amber;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)	"Charcot-Marie-Tooth neuropathy, X-linked dominant, 1	302800"				26503795;23279342;26385972		False	2	0;0;0	0.483	True		ENSG00000169562	ENSG00000169562	HGNC:4283													
GRIA1	gene	GRIA1	Expert Review Amber	Intellectual disability update Jan 2018			MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Intellectual disability				28628100;23033978;26350204;24896178		False	2	0;0;0	0.483	True	Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments	ENSG00000155511	ENSG00000155511	HGNC:4571													
GSS	gene	GSS	Expert Review Amber;Radboud University Medical Center, Nijmegen	Intellectual disability update Jan 2018			BIALLELIC, autosomal or pseudoautosomal	"Glutathione synthetase deficiency	266130;Hemolytic anemia due to glutathione synthetase deficiency 231900"				29340523;24896178;26503795;8896573;15990954		False	2	0;0;0	0.483	True		ENSG00000100983	ENSG00000100983	HGNC:4624													
HAX1	gene	HAX1	Expert Review Amber;Radboud University Medical Center, Nijmegen	Intellectual disability update Jan 2018			BIALLELIC, autosomal or pseudoautosomal	"Neutropenia, severe congenital 3, autosomal recessive	610738"				18611981;24896178;26503795		False	2	0;0;0	0.483	True		ENSG00000143575	ENSG00000143575	HGNC:16915													
HIST1H4C	gene	HIST1H4C	Expert Review Amber;Gene2Phenotype	Intellectual disability update Jan 2018				Growth delay, microcephaly and intellectual disability				28920961		False	2	0;0;0	0.483	True		ENSG00000197061	ENSG00000197061	HGNC:4787													
KLHL15	gene	KLHL15	Expert Review Amber	Intellectual disability update Jan 2018			X-LINKED: hemizygous mutation in males, biallelic mutations in females	Mental retardation, X-linked 103, 300982;MRX103;Intellectual disability				26350204;24817631;25644381		False	2	0;0;0	0.483	True		ENSG00000174010	ENSG00000174010	HGNC:29347													
KMT2B	gene	KMT2B	BRIDGE study SPEED NEURO Tier1 Gene;Expert Review Amber	Intellectual disability update Jan 2018				"Dystonia 28, childhood-onset	617284"				27839873;27992417;29276005;25405613;29289525		False	2	0;0;0	0.483	True		ENSG00000272333	ENSG00000272333	HGNC:15840													
MAPK10	gene	MAPK10	Expert Review Amber	Intellectual disability update Jan 2018			MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Lennox-Gastaut syndrome;LGS;Epileptic Encephalopathy;Epileptic Encephalopathy Lennox-Gastaut type				23329067		False	2	0;100;0	0.483	True		ENSG00000109339	ENSG00000109339	HGNC:6872													
MED23	gene	MED23	Expert Review Amber;Radboud University Medical Center, Nijmegen	Intellectual disability update Jan 2018			BIALLELIC, autosomal or pseudoautosomal	Mental retardation, autosomal recessive 18, 614249;MRT18;Intellectual disability				21868677;25845469;25527630;22129135		False	2	0;0;0	0.483	True		ENSG00000112282	ENSG00000112282	HGNC:2372													
MED25	gene	MED25	Expert Review Amber;Literature	Intellectual disability update Jan 2018			BIALLELIC, autosomal or pseudoautosomal	Basel-Vanagait-Smirin-Yosef syndrome, 616449;BVSYS;Syndromic intellectual disability;Congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome				25792360;25527630		False	2	0;0;0	0.483	True		ENSG00000104973	ENSG00000104973	HGNC:28845													
MIR17HG	gene	MIR17HG	Expert Review Amber	Intellectual disability update Jan 2018			MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Feingold syndrome 2, 614326;FS2;Brachydactyly with short stature and microcephaly;Intellectual disability				21892160;19344873;25391829;26360630		False	2	0;0;0	0.483	True		ENSG00000215417	ENSG00000215417	HGNC:23564													
NDUFAF2	gene	NDUFAF2	Expert Review Amber	Intellectual disability update Jan 2018			BIALLELIC, autosomal or pseudoautosomal	Leigh syndrome 256000;Mitochondrial complex I deficiency 252010				16200211;20818383;20571988		False	2	0;0;0	0.483	True		ENSG00000164182	ENSG00000164182	HGNC:28086