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 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 CLCN5 gene CLCN5 Expert Review Red Intellectual disability update Jan 2018 BOTH monoallelic and biallelic, autosomal or pseudoautosomal "Dent disease 300009;Hypophosphatemic rickets 300554;Nephrolithiasis, type I 310468;Proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis 308990" False 1 0;0;0 0.483 False ENSG00000171365 ENSG00000171365 HGNC:2023 CLCNKA gene CLCNKA Gene2Phenotype Intellectual disability update Jan 2018 Bartter syndrome, type 4b, digenic, 613090;Infantile Bartter syndrome with sensorineural deafness, intellectual disability False 1 0;0;100 0.483 False ENSG00000186510 ENSG00000186510 HGNC:2026 CLCNKB gene CLCNKB Expert Review Red;Radboud University Medical Center, Nijmegen Intellectual disability update Jan 2018 BIALLELIC, autosomal or pseudoautosomal 15044642;18310267;16391491 False 1 0;0;0 0.483 False ENSG00000184908 ENSG00000184908 HGNC:2027 CLIC2 gene CLIC2 Emory Genetics Laboratory;Expert Review Red;Radboud University Medical Center, Nijmegen Intellectual disability update Jan 2018 22814392;25927380 False 1 0;0;0 0.483 False ENSG00000155962 ENSG00000155962 HGNC:2063 CMC4 gene CMC4 Expert Review Red Intellectual disability update Jan 2018 26350204;24896178 False 1 0;0;0 0.483 False ENSG00000182712 ENSG00000182712 HGNC:35428 CNKSR1 gene CNKSR1 Expert Review Red Intellectual disability update Jan 2018 AUTOSOMAL RECESSIVE MENTAL RETARDATION (G2P) 26350204;21937992 False 1 0;0;0 0.483 False ENSG00000142675 ENSG00000142675 HGNC:19700 COA5 gene COA5 Expert Review Red Intellectual disability update Jan 2018 ?Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3 616500;MITOCHONDRIAL COMPLEX IV DEFICIENCY False 1 0;0;0 0.483 False ENSG00000183513 ENSG00000183513 HGNC:33848 COL4A6 gene COL4A6 Expert Review Red Intellectual disability update Jan 2018 ?Deafness, X-linked 6 300914 26350204 False 1 0;0;0 0.483 False ENSG00000197565 ENSG00000197565 HGNC:2208 COQ2 gene COQ2 Expert Review Red;Radboud University Medical Center, Nijmegen Intellectual disability update Jan 2018 Coenzyme Q10 deficiency, primary, 1 607426;{Multiple system atrophy, susceptibility to} 146500 False 1 0;0;0 0.483 False ENSG00000173085 ENSG00000173085 HGNC:25223 COQ5 gene COQ5 Expert Review Red Intellectual disability update Jan 2018 19377476;26350204 False 1 0;0;100 0.483 False ENSG00000110871 ENSG00000110871 HGNC:28722 COX14 gene COX14 Expert Review Red Intellectual disability update Jan 2018 MITOCHONDRIAL ?Mitochondrial complex IV deficiency 220110 22243966 False 1 0;0;0 0.483 False ENSG00000178449 ENSG00000178449 HGNC:28216 CP gene CP BRIDGE study SPEED NEURO Tier1 Gene;Expert Review Red Intellectual disability update Jan 2018 False 1 0;0;100 0.483 False ENSG00000047457 ENSG00000047457 HGNC:2295 CPA6 gene CPA6 BRIDGE study SPEED NEURO Tier1 Gene;Expert Review Red Intellectual disability update Jan 2018 BOTH monoallelic and biallelic, autosomal or pseudoautosomal "Epilepsy, familial temporal lobe, 5 614417 AD, AR;Febrile seizures, familial, 11 614418" False 1 0;0;100 0.483 False ENSG00000165078 ENSG00000165078 HGNC:17245 FASN gene FASN Expert Review Red Intellectual disability update Jan 2018 19377476;26350204 False 1 0;0;100 0.483 False ENSG00000169710 ENSG00000169710 HGNC:3594 GABRQ gene GABRQ Expert Review Red Intellectual disability update Jan 2018 Unknown ASD;schizophrenia;migraine 25574603;23169495;20479760;26350204 False 1 0;0;0 0.483 False ENSG00000147402 ENSG00000268089 HGNC:14454 GAD1 gene GAD1 Expert Review Red;Radboud University Medical Center, Nijmegen Intellectual disability update Jan 2018 BIALLELIC, autosomal or pseudoautosomal "?Cerebral palsy, spastic quadriplegic, 1 603513" False 1 0;0;0 0.483 False ENSG00000128683 ENSG00000128683 HGNC:4092 GALNS gene GALNS Expert Review Red Intellectual disability update Jan 2018 False 1 0;0;0 0.483 False ENSG00000141012 ENSG00000141012 HGNC:4122 GCSH gene GCSH Expert Review Red;Radboud University Medical Center, Nijmegen Intellectual disability update Jan 2018 BIALLELIC, autosomal or pseudoautosomal "Glycine encephalopathy 605899" 1671321;26503795;24896178;25231368 False 1 0;0;0 0.483 False ENSG00000140905 ENSG00000140905 HGNC:4208 GDAP1 gene GDAP1 BRIDGE study SPEED NEURO Tier1 Gene;Expert Review Red Intellectual disability update Jan 2018 False 1 0;0;100 0.483 False ENSG00000104381 ENSG00000104381 HGNC:15968 GLRA2 gene GLRA2 Expert Review Red Intellectual disability update Jan 2018 autism spectrum disorder 28588452;26370147;29057625 False 1 0;0;0 0.483 False ENSG00000101958 ENSG00000101958 HGNC:4327 GNAL gene GNAL BRIDGE study SPEED NEURO Tier1 Gene;Expert Review Red Intellectual disability update Jan 2018 False 1 0;0;100 0.483 False ENSG00000141404 ENSG00000141404 HGNC:4388 GON4L gene GON4L Expert Review Red Intellectual disability update Jan 2018 False 1 0;0;0 0.483 False ENSG00000116580 ENSG00000116580 HGNC:25973 GOSR2 gene GOSR2 BRIDGE study SPEED NEURO Tier1 Gene;Expert Review Red Intellectual disability update Jan 2018 False 1 0;0;100 0.483 False ENSG00000108433 ENSG00000108433 HGNC:4431 GPHN gene GPHN Expert Review Red;Radboud University Medical Center, Nijmegen Intellectual disability update Jan 2018 BIALLELIC, autosomal or pseudoautosomal "Molybdenum cofactor deficiency C 615501" 11095995 False 1 0;0;0 0.483 False ENSG00000171723 ENSG00000171723 HGNC:15465 GPRASP1 gene GPRASP1 Expert Review Red Intellectual disability update Jan 2018 26995686;24569167 False 1 0;0;0 0.483 False ENSG00000198932 ENSG00000198932 HGNC:24834 GRB14 gene GRB14 Expert Review Red Intellectual disability update Jan 2018 26350204 False 1 0;0;100 0.483 False ENSG00000115290 ENSG00000115290 HGNC:4565 GRIA2 gene GRIA2 Expert Review Red Intellectual disability update Jan 2018 28725178;26350204;24896178 False 1 0;0;0 0.483 False ENSG00000120251 ENSG00000120251 HGNC:4572 GRN gene GRN BRIDGE study SPEED NEURO Tier1 Gene;Expert Review Red Intellectual disability update Jan 2018 False 1 0;0;0 0.483 False ENSG00000030582 ENSG00000030582 HGNC:4601 GTPBP8 gene GTPBP8 Expert Review Red Intellectual disability update Jan 2018 26350204 False 1 0;0;100 0.483 False ENSG00000163607 ENSG00000163607 HGNC:25007 HAUS7 gene HAUS7 Expert Review Red Intellectual disability update Jan 2018 False 1 0;0;100 0.483 False ENSG00000213397 ENSG00000213397 HGNC:32979 HDAC6 gene HDAC6 Expert Review Red;Radboud University Medical Center, Nijmegen Intellectual disability update Jan 2018 ?Chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia 300863 16001442;20181727;16900295;27545680 False 1 0;0;0 0.483 False ENSG00000094631 ENSG00000094631 HGNC:14064 HIST1H4B gene HIST1H4B Expert Review Red Intellectual disability update Jan 2018 False 1 0;0;100 0.483 False ENSG00000124529 ENSG00000278705 HGNC:4789 HIST3H3 gene HIST3H3 Expert Review Red Intellectual disability update Jan 2018 False 1 0;0;100 0.483 False ENSG00000168148 ENSG00000168148 HGNC:4778 HK1 gene HK1 BRIDGE study SPEED NEURO Tier1 Gene;Expert Review Red Intellectual disability update Jan 2018 False 1 0;0;0 0.483 False ENSG00000156515 ENSG00000156515 HGNC:4922 KLF8 gene KLF8 Emory Genetics Laboratory;Expert Review Red Intellectual disability update Jan 2018 Intellectual disability 11836360 False 1 0;0;100 0.483 False ENSG00000102349 ENSG00000102349 HGNC:6351 KLHL21 gene KLHL21 Expert Review Red Intellectual disability update Jan 2018 20181063;26350204 False 1 0;0;100 0.483 False ENSG00000162413 ENSG00000162413 HGNC:29041 KLHL34 gene KLHL34 Expert Review Red Intellectual disability update Jan 2018 26350204 False 1 0;0;100 0.483 False ENSG00000185915 ENSG00000185915 HGNC:26634 KLHL4 gene KLHL4 Expert Review Red Intellectual disability update Jan 2018 False 1 0;0;0 0.483 False ENSG00000102271 ENSG00000102271 HGNC:6355 KRIT1 gene KRIT1 Expert Review Red Intellectual disability update Jan 2018 False 1 0;0;0 0.483 False ENSG00000001631 ENSG00000001631 HGNC:1573 LAS1L gene LAS1L Expert Review Red Intellectual disability update Jan 2018 X-LINKED: hemizygous mutation in males, biallelic mutations in females Wilson-Turner syndrome 309585 25644381;26358559 False 1 0;0;0 0.483 False ENSG00000001497 ENSG00000001497 HGNC:25726 LBR gene LBR Expert Review Red Intellectual disability update Jan 2018 "?Reynolds syndrome 613471;Greenberg skeletal dysplasia 215140;Pelger-Huet anomaly169400;HYDROPS-ECTOPIC CALCIFICATION-MOTH-EATEN SKELETAL DYSPLASIA" 14684694;12118250 False 1 0;0;0 0.483 False ENSG00000143815 ENSG00000143815 HGNC:6518 LGI1 gene LGI1 Expert Review Red Intellectual disability update Jan 2018 Epilepsy, familial temporal lobe, 1 600512;AUTOSOMAL DOMINANT PARTIAL EPILEPSY WITH AUDITORY FEATURES False 1 0;0;0 0.483 False ENSG00000108231 ENSG00000108231 HGNC:6572 LHFPL3 gene LHFPL3 Expert Review Red Intellectual disability update Jan 2018 20219702 False 1 0;0;0 0.483 False ENSG00000187416 ENSG00000187416 HGNC:6589 LIMK1 gene LIMK1 Expert Review Red Intellectual disability update Jan 2018 "Williams-Beuren syndrome 194050" 8689688;26350204 False 1 0;0;0 0.483 False ENSG00000106683 ENSG00000106683 HGNC:6613 LITAF gene LITAF BRIDGE study SPEED NEURO Tier1 Gene;Expert Review Red Intellectual disability update Jan 2018 False 1 0;0;0 0.483 False ENSG00000189067 ENSG00000189067 HGNC:16841 LOXHD1 gene LOXHD1 BRIDGE study SPEED NEURO Tier1 Gene;Expert Review Red Intellectual disability update Jan 2018 False 1 0;0;0 0.483 False ENSG00000167210 ENSG00000167210 HGNC:26521 LRAT gene LRAT Expert Review Red Intellectual disability update Jan 2018 False 1 0;0;0 0.483 False ENSG00000121207 ENSG00000121207 HGNC:6685 LRP1 gene LRP1 Expert Review Red Intellectual disability update Jan 2018 26350204 False 1 0;0;100 0.483 False ENSG00000123384 ENSG00000123384 HGNC:6692 LRRK1 gene LRRK1 Expert Review Red Intellectual disability update Jan 2018 26350204 False 1 0;0;100 0.483 False ENSG00000154237 ENSG00000154237 HGNC:18608 LRRK2 gene LRRK2 BRIDGE study SPEED NEURO Tier1 Gene;Expert Review Red Intellectual disability update Jan 2018 False 1 0;0;0 0.483 False ENSG00000188906 ENSG00000188906 HGNC:18618 MAFB gene MAFB BRIDGE study SPEED NEURO Tier1 Gene;Expert Review Red Intellectual disability update Jan 2018 Duane retraction syndrome 3 (617041);Multicentric carpotarsal osteolysis syndrome (166300) 3591830;3041835;23670161 False 1 0;0;0 0.483 False ENSG00000204103 ENSG00000204103 HGNC:6408 MAGEA11 gene MAGEA11 Expert Review Red Intellectual disability update Jan 2018 26350204 False 1 0;0;100 0.483 False ENSG00000185247 ENSG00000185247 HGNC:6798 MAGEB1 gene MAGEB1 Expert Review Red Intellectual disability update Jan 2018 26350204 False 1 0;0;100 0.483 False ENSG00000214107 ENSG00000214107 HGNC:6808 MAGEB10 gene MAGEB10 Expert Review Red Intellectual disability update Jan 2018 26350204 False 1 0;0;100 0.483 False ENSG00000177689 ENSG00000177689 HGNC:25377 MAGEB2 gene MAGEB2 Expert Review Red Intellectual disability update Jan 2018 26350204 False 1 0;0;100 0.483 False ENSG00000099399 ENSG00000099399 HGNC:6809 MAGEC1 gene MAGEC1 Expert Review Red Intellectual disability update Jan 2018 26350204 False 1 0;0;100 0.483 False ENSG00000155495 ENSG00000155495 HGNC:6812 MAGEC3 gene MAGEC3 Expert Review Red Intellectual disability update Jan 2018 26350204 False 1 0;0;100 0.483 False ENSG00000165509 ENSG00000165509 HGNC:23798 MAGED1 gene MAGED1 Expert Review Red Intellectual disability update Jan 2018 X-LINKED: hemizygous mutation in males, biallelic mutations in females X-linked syndrome characterized by intellectual disability 28414775;24700102;22865874 False 1 0;0;100 0.483 False ENSG00000179222 ENSG00000179222 HGNC:6813 MAGEE2 gene MAGEE2 Expert Review Red Intellectual disability update Jan 2018 26350204 False 1 0;0;100 0.483 False ENSG00000186675 ENSG00000186675 HGNC:24935 MAGI2 gene MAGI2 Expert Review Red Intellectual disability update Jan 2018 Epileptic encephalopathy;Infantile spasms 18565486;27932480 False 1 0;0;100 0.483 False ENSG00000187391 ENSG00000187391 HGNC:18957 MAGIX gene MAGIX Expert Review Red Intellectual disability update Jan 2018 26350204 False 1 0;0;100 0.483 False ENSG00000017621 ENSG00000269313 HGNC:30006 MAGT1 gene MAGT1 Expert Review Red;Radboud University Medical Center, Nijmegen Intellectual disability update Jan 2018 Immunodeficiency, X-linked, with magnesium defect, Epstein-Barr virus infection and neoplasia, 300853 18455129;23871722;21796205 False 1 0;0;100 0.483 False ENSG00000102158 ENSG00000102158 HGNC:28880 MAOB gene MAOB Expert Review Red Intellectual disability update Jan 2018 26350204;20485326;8613523;29321361 False 1 0;0;100 0.483 False ENSG00000069535 ENSG00000069535 HGNC:6834 MAP3K15 gene MAP3K15 Expert Review Red Intellectual disability update Jan 2018 26350204 False 1 0;0;100 0.483 False ENSG00000180815 ENSG00000180815 HGNC:31689 MAP7D3 gene MAP7D3 Expert Review Red Intellectual disability update Jan 2018 Intellectual disability 28600779;2635020 False 1 0;0;100 0.483 False ENSG00000129680 ENSG00000129680 HGNC:25742 MAPT gene MAPT BRIDGE study SPEED NEURO Tier1 Gene;Expert Review Red Intellectual disability update Jan 2018 False 1 0;0;0 0.483 False ENSG00000186868 ENSG00000186868 HGNC:6893 MARS2 gene MARS2 BRIDGE study SPEED NEURO Tier1 Gene;Expert Review Red Intellectual disability update Jan 2018 ?Combined oxidative phosphorylation deficiency 25 (616430) (global developmental delay) 25754315 False 1 0;0;0 0.483 False ENSG00000247626 ENSG00000247626 HGNC:25133 MBNL3 gene MBNL3 Expert Review Red Intellectual disability update Jan 2018 26350204 False 1 0;0;100 0.483 False ENSG00000076770 ENSG00000076770 HGNC:20564 MCEE gene MCEE Expert Review Red Intellectual disability update Jan 2018 "Methylmalonyl-CoA epimerase deficiency 251120" 16752391;25763508 False 1 0;0;0 0.483 False ENSG00000124370 ENSG00000124370 HGNC:16732 MECR gene MECR BRIDGE study SPEED NEURO Tier1 Gene;Expert Review Red Intellectual disability update Jan 2018 False 1 0;0;0 0.483 False ENSG00000116353 ENSG00000116353 HGNC:19691 MGAT5B gene MGAT5B Expert Review Red Intellectual disability update Jan 2018 26350204 False 1 0;0;100 0.483 False ENSG00000167889 ENSG00000167889 HGNC:24140 MIB1 gene MIB1 Expert Review Red Intellectual disability update Jan 2018 26350204 False 1 0;0;100 0.483 False ENSG00000101752 ENSG00000101752 HGNC:21086 MITF gene MITF BRIDGE study SPEED NEURO Tier1 Gene;Expert Review Red Intellectual disability update Jan 2018 False 1 0;0;0 0.483 False ENSG00000187098 ENSG00000187098 HGNC:7105 MLH1 gene MLH1 Expert Review Red Intellectual disability update Jan 2018 BIALLELIC, autosomal or pseudoautosomal "Mismatch repair cancer syndrome 276300" 22692065;24896178 False 1 0;0;0 0.483 False ENSG00000076242 ENSG00000076242 HGNC:7127 MORC4 gene MORC4 Expert Review Red Intellectual disability update Jan 2018 26350204 False 1 0;0;100 0.483 False ENSG00000133131 ENSG00000133131 HGNC:23485 MPDZ gene MPDZ Expert Review Red Intellectual disability update Jan 2018 "Hydrocephalus, nonsyndromic, autosomal recessive 2 615219" 23240096 False 1 0;0;0 0.483 False ENSG00000107186 ENSG00000107186 HGNC:7208 MPZ gene MPZ BRIDGE study SPEED NEURO Tier1 Gene;Expert Review Red Intellectual disability update Jan 2018 "Associated with Charcot-Marie-Tooth disease, dominant intermediate D ( 607791);Charcot-Marie-Tooth disease, type 1B (118200);Charcot-Marie-Tooth disease, type 2I (607677);Charcot-Marie-Tooth disease, type 2J (607736);Dejerine-Sottas disease (145900);Neuropathy, congenital hypomyelinating (605253);Roussy-Levy syndrome (180800)" 26310628 False 1 0;0;0 0.483 False ENSG00000158887 ENSG00000158887 HGNC:7225 MRE11 gene MRE11 Expert Review Red Intellectual disability update Jan 2018 BIALLELIC, autosomal or pseudoautosomal Nijmegen breakage syndrome-like severe microcephaly, Intellectual disability 21227757 False 1 0;0;100 0.483 False ENSG00000020922 ENSG00000020922 HGNC:7230 MSL3 gene MSL3 Expert Review Red Intellectual disability update Jan 2018 26350204;19377476 False 1 0;0;100 0.483 False ENSG00000005302 ENSG00000005302 HGNC:7370 MT-ATP6 gene MT-ATP6 BRIDGE study SPEED NEURO Tier1 Gene;Expert Review Red Intellectual disability update Jan 2018 8644724 False 1 0;0;0 0.483 False ENSG00000198899 ENSG00000198899 HGNC:7414 MTF1 gene MTF1 Expert Review Red Intellectual disability update Jan 2018 26350204;28901405;18341605 False 1 0;0;100 0.483 False ENSG00000188786 ENSG00000188786 HGNC:7428 MTM1 gene MTM1 Emory Genetics Laboratory;Expert Review Red Intellectual disability update Jan 2018 False 1 0;0;0 0.483 False ENSG00000171100 ENSG00000171100 HGNC:7448 MTMR1 gene MTMR1 Expert Review Red Intellectual disability update Jan 2018 26350204 False 1 0;0;100 0.483 False ENSG00000063601 ENSG00000063601 HGNC:7449 MTMR14 gene MTMR14 Gene2Phenotype Intellectual disability update Jan 2018 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown {Centronuclear myopathy, autosomal, modifier of}, 160150;Autosomal dominant centronuclear myopathy 17008356 False 1 0;0;100 0.483 False ENSG00000163719 ENSG00000163719 HGNC:26190 MTMR2 gene MTMR2 BRIDGE study SPEED NEURO Tier1 Gene;Expert Review Red Intellectual disability update Jan 2018 BIALLELIC, autosomal or pseudoautosomal Charcot-Marie-Tooth disease, type 4B, 601382 False 1 0;0;0 0.483 False ENSG00000087053 ENSG00000087053 HGNC:7450 MTMR8 gene MTMR8 Expert Review Red Intellectual disability update Jan 2018 26350204;19377476;22670894 False 1 0;0;100 0.483 False ENSG00000102043 ENSG00000102043 HGNC:16825 MT-ND1 gene MT-ND1 BRIDGE study SPEED NEURO Tier1 Gene;Expert Review Red Intellectual disability update Jan 2018 MITOCHONDRIAL Leber optic atrophy;Sudden infant death syndrome;Mitochondrial complex I deficiency;Dystonia, adult-onset;Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes syndrome;MELAS syndrome;Deafness, nonsyndromic sensorineural, mitochondrial False 1 0;100;0 0.483 False ENSG00000198888 ENSG00000198888 HGNC:7455 MT-ND4 gene MT-ND4 BRIDGE study SPEED NEURO Tier1 Gene;Expert Review Red Intellectual disability update Jan 2018 MITOCHONDRIAL Mitochondrial complex I deficiency;autism spectrum disorder;intellectual disability 29340697;12707444 False 1 0;0;100 0.483 True ENSG00000198886 ENSG00000198886 HGNC:7459 MTPAP gene MTPAP BRIDGE study SPEED NEURO Tier1 Gene;Expert Review Red Intellectual disability update Jan 2018 BIALLELIC, autosomal or pseudoautosomal "?Spastic ataxia 4, autosomal recessive 613672" 20970105 False 1 0;0;0 0.483 False ENSG00000107951 ENSG00000107951 HGNC:25532 MT-TK gene MT-TK BRIDGE study SPEED NEURO Tier1 Gene;Expert Review Red Intellectual disability update Jan 2018 MITOCHONDRIAL MERRF syndrome 545000;MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOMYOPATHY SYNDROME 8264702;9380435 False 1 0;0;100 0.483 True ENSG00000210156 ENSG00000210156 HGNC:7489 MTTP gene MTTP Expert Review Red Intellectual disability update Jan 2018 BIALLELIC, autosomal or pseudoautosomal Abetalipoproteinemia, 200100 8361539;10946006;16721486;12630961;10679949;18611256;27160094 False 1 0;0;100 0.483 False ENSG00000138823 ENSG00000138823 HGNC:7467 MVK gene MVK Expert Review Red;Radboud University Medical Center, Nijmegen Intellectual disability update Jan 2018 BIALLELIC, autosomal or pseudoautosomal "Mevalonic aciduria 610377" 26503795;24896178 False 1 0;0;0 0.483 False ENSG00000110921 ENSG00000110921 HGNC:7530 MXRA5 gene MXRA5 Expert Review Red Intellectual disability update Jan 2018 26350204 False 1 0;0;100 0.483 False ENSG00000101825 ENSG00000101825 HGNC:7539 MYBPC1 gene MYBPC1 BRIDGE study SPEED NEURO Tier1 Gene;Expert Review Red Intellectual disability update Jan 2018 BOTH monoallelic and biallelic, autosomal or pseudoautosomal Arthrogryposis, distal, type 1B 614335 AD;Lethal congenital contracture syndrome 4 614915 AR 26661508 False 1 0;0;0 0.483 False ENSG00000196091 ENSG00000196091 HGNC:7549 MYH10 gene MYH10 Gene2Phenotype Intellectual disability update Jan 2018 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown MYH10-related Multiple congenital anomalies, Intellectual disability 25356899;25003005 False 1 0;0;100 0.483 False ENSG00000133026 ENSG00000133026 HGNC:7568 MYO1D gene MYO1D Expert Review Red Intellectual disability update Jan 2018 26350204 False 1 0;0;100 0.483 False ENSG00000176658 ENSG00000176658 HGNC:7598 MYO1G gene MYO1G Expert Review Red Intellectual disability update Jan 2018 26350204 False 1 0;0;100 0.483 False ENSG00000136286 ENSG00000136286 HGNC:13880 NADK2 gene NADK2 Literature Intellectual disability update Jan 2018 BIALLELIC, autosomal or pseudoautosomal "?2,4-dienoyl-CoA reductase deficiency 616034" 24847004;23212377;27940755 False 1 0;0;0 0.483 False ENSG00000152620 ENSG00000152620 HGNC:26404 NDN gene NDN Literature Intellectual disability update Jan 2018 Smith-Magenis-like syndrome 28213671 False 1 0;0;0 0.483 False ENSG00000182636 ENSG00000182636 HGNC:7675 NDRG1 gene NDRG1 BRIDGE study SPEED NEURO Tier1 Gene;Expert Review Red Intellectual disability update Jan 2018 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Charcot-Marie-Tooth disease, type 4D, 601455 False 1 0;0;0 0.483 False ENSG00000104419 ENSG00000104419 HGNC:7679 NDUFA10 gene NDUFA10 Gene2Phenotype Intellectual disability update Jan 2018 BIALLELIC, autosomal or pseudoautosomal Leigh syndrome, 256000;Leigh disease with leukodystrophy;Nuclear Gene-Encoded Leigh syndrome 26425749;26741492;21150889 False 1 0;0;100 0.483 False ENSG00000130414 ENSG00000130414 HGNC:7684 NDUFA11 gene NDUFA11 Expert Review Red;Radboud University Medical Center, Nijmegen Intellectual disability update Jan 2018 Mitochondrial complex I deficiency 252010 18306244 False 1 0;0;0 0.483 False ENSG00000174886 ENSG00000174886 HGNC:20371 NDUFA12 gene NDUFA12 Expert Review Red;Radboud University Medical Center, Nijmegen Intellectual disability update Jan 2018 BIALLELIC, autosomal or pseudoautosomal "Leigh syndrome due to mitochondrial complex 1 deficiency 256000" 21617257;26503795;24896178 False 1 0;0;0 0.483 False ENSG00000184752 ENSG00000184752 HGNC:23987 NDUFA9 gene NDUFA9 Gene2Phenotype Intellectual disability update Jan 2018 BIALLELIC, autosomal or pseudoautosomal Leigh syndrome due to mitochondrial complex I deficiency, 256000;Leigh disease with leukodystrophy;Nuclear Gene-Encoded Leigh syndrome 22114105;26425749 False 1 0;0;100 0.483 False ENSG00000139180 ENSG00000139180 HGNC:7693 NDUFAF3 gene NDUFAF3 Literature Intellectual disability update Jan 2018 BIALLELIC, autosomal or pseudoautosomal "Mitochondrial complex I deficiency 252010" 19463981 False 1 0;0;100 0.483 False ENSG00000178057 ENSG00000178057 HGNC:29918 NDUFS2 gene NDUFS2 Expert Review Red;Radboud University Medical Center, Nijmegen Intellectual disability update Jan 2018 BIALLELIC, autosomal or pseudoautosomal "Mitochondrial complex I deficiency 252010" 26503795;24896178 False 1 0;0;0 0.483 False ENSG00000158864 ENSG00000158864 HGNC:7708 NDUFS3 gene NDUFS3 Expert Review Red;Radboud University Medical Center, Nijmegen Intellectual disability update Jan 2018 BIALLELIC, autosomal or pseudoautosomal "Leigh syndrome due to mitochondrial complex I deficiency 256000;Mitochondrial complex I deficiency 252010" 26503795;24896178 False 1 0;0;0 0.483 False ENSG00000213619 ENSG00000213619 HGNC:7710 NEB gene NEB Gene2Phenotype Intellectual disability update Jan 2018 BIALLELIC, autosomal or pseudoautosomal Nemaline myopathy 2, autosomal recessive, 256030 10051637;12207937;15221447;16917880;27933661 False 1 0;0;100 0.483 False ENSG00000183091 ENSG00000183091 HGNC:7720 NECAB2 gene NECAB2 Expert Review Red Intellectual disability update Jan 2018 26350204 False 1 0;0;100 0.483 False ENSG00000103154 ENSG00000103154 HGNC:23746 NEDD4L gene NEDD4L Expert Review Red Intellectual disability update Jan 2018 False 1 0;0;100 0.483 False ENSG00000049759 ENSG00000049759 HGNC:7728 NEFL gene NEFL BRIDGE study SPEED NEURO Tier1 Gene;Expert Review Red Intellectual disability update Jan 2018 BOTH monoallelic and biallelic, autosomal or pseudoautosomal Charcot Marie Tooth disease, type 2E, 607684;Charcot Marie Tooth disease, type 1F, 607734 False 1 0;0;0 0.483 False ENSG00000104725 ENSG00000277586 HGNC:7739 NHEJ1 gene NHEJ1 BRIDGE study SPEED NEURO Tier1 Gene;Expert Review Red Intellectual disability update Jan 2018 BIALLELIC, autosomal or pseudoautosomal "Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation 611291" 28741180;16439204;16439205 False 1 0;0;0 0.483 False ENSG00000187736 ENSG00000187736 HGNC:25737 NHLRC1 gene NHLRC1 BRIDGE study SPEED NEURO Tier1 Gene;Expert Review Red Intellectual disability update Jan 2018 BIALLELIC, autosomal or pseudoautosomal Epilepsy, progressive myoclonic 2B (Lafora), 254780 False 1 0;0;0 0.483 False ENSG00000187566 ENSG00000187566 HGNC:21576 NHP2 gene NHP2 Expert Review Red;Gene2Phenotype Intellectual disability update Jan 2018 BIALLELIC, autosomal or pseudoautosomal Dyskeratosis congenita, autosomal recessive 2, 613987 25182133;18523010;25907943;20301779 False 1 0;0;0 0.483 False ENSG00000145912 ENSG00000145912 HGNC:14377 NIPA1 gene NIPA1 BRIDGE study SPEED NEURO Tier1 Gene;Expert Review Red Intellectual disability update Jan 2018 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Spastic paraplegia 6, autosomal dominant, 600363;Non Imprinted In Prader-Willi/Angelman Syndrome 1 14508710;15643603;15711826 False 1 0;0;100 0.483 False ENSG00000170113 ENSG00000170113 HGNC:17043 NKAP gene NKAP Expert Review Red Intellectual disability update Jan 2018 26358559;26350204 False 1 0;0;100 0.483 False ENSG00000101882 ENSG00000101882 HGNC:29873 NLGN4X gene NLGN4X Emory Genetics Laboratory;Expert Review Red Intellectual disability update Jan 2018 12669065;18231125;10071191;29428674 False 1 0;0;100 0.483 False ENSG00000146938 ENSG00000146938 HGNC:14287 NLRP3 gene NLRP3 Expert Review Red;Radboud University Medical Center, Nijmegen Intellectual disability update Jan 2018 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown False 1 0;100;0 0.483 False ENSG00000162711 ENSG00000162711 HGNC:16400 NOP56 gene NOP56 BRIDGE study SPEED NEURO Tier1 Gene;Expert Review Red Intellectual disability update Jan 2018 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Spinocerebellar ataxia 36, 614153 False 1 0;0;100 0.483 False ENSG00000101361 ENSG00000101361 HGNC:15911 NR1I3 gene NR1I3 Expert Review Red Intellectual disability update Jan 2018 EHMT1-like Intellectual disability 22726846;29069077 False 1 0;0;100 0.483 False ENSG00000143257 ENSG00000143257 HGNC:7969 NRK gene NRK Expert Review Red Intellectual disability update Jan 2018 Hypermobility syndrome;Sotos syndrome 21834033 False 1 0;0;100 0.483 False ENSG00000123572 ENSG00000123572 HGNC:25391 NRXN3 gene NRXN3 Expert Review Red Intellectual disability update Jan 2018 Autism spectrum disorder 22209245 False 1 0;0;100 0.483 False ENSG00000021645 ENSG00000021645 HGNC:8010 NTM gene NTM Expert Review Red Intellectual disability update Jan 2018 26350204 False 1 0;0;100 0.483 False ENSG00000182667 ENSG00000182667 HGNC:17941 PUDP gene PUDP Expert Review Red Intellectual disability update Jan 2018 False 1 0;0;100 0.483 False ENSG00000130021 ENSG00000130021 HGNC:16818 RUBCN gene RUBCN Expert Review Red Intellectual disability update Jan 2018 False 1 0;0;100 0.483 False ENSG00000145016 ENSG00000145016 HGNC:28991 SVBP gene SVBP Expert Review Red Intellectual disability update Jan 2018 False 1 0;0;100 0.483 False ENSG00000177868 ENSG00000177868 HGNC:29204