Intellectual disability update Jan 2018 (Version 0.483)

List	Entity	Reviews	Mode of inheritance	Details
Filter Entities 162 Entitiess
Green List (high evidence)	CDH11	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Elsahy-Waters syndrome Tags
Green List (high evidence)	CLCN4	2 reviews	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Phenotypes Mental retardation, X-linked 49/15 300114 Tags
Green List (high evidence)	CLTC	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Gene2Phenotype Phenotypes Mental retardation, autosomal dominant 56, 617854 Autosomal dominant non-syndromic intellectual disability Epilepsy and intellectual disability Tags
Green List (high evidence)	COG5	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Phenotypes Congenital disorder of glycosylation, type IIi 613612 Tags
Green List (high evidence)	GABRG2	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Epilepsy, generalized, with febrile seizures plus, type 3 611277 Febrile seizures, familial, 8 611277 {Epilepsy, childhood absence, susceptibility to, 2} 607681 Tags
Green List (high evidence)	GFER	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay, 613076 Intellectual disability Tags
Green List (high evidence)	GMPPB	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes 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 Tags
Green List (high evidence)	GPAA1	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Other Phenotypes Glycosylphosphatidylinositol biosynthesis defect 15 617810 Tags
Green List (high evidence)	GRID2	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Spinocerebellar ataxia, autosomal recessive 18 616204 Tags
Green List (high evidence)	HIVEP2	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Phenotypes Mental retardation, autosomal dominant 43, 616977 MRD43 Intellectual disability Tags
Green List (high evidence)	KIAA1109	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Brain atrophy, Dandy Walker and Contractures Tags
Green List (high evidence)	KMT2C	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Phenotypes Kleefstra syndrome 2 617768 Tags
Green List (high evidence)	LARGE1	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Gene2Phenotype Phenotypes 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 Tags
Green List (high evidence)	LONP1	3 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes CODAS syndrome, 600373 Cerebral, ocular, dental, auricular, and skeletal anomalies syndrome Tags
Green List (high evidence)	MBOAT7	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Gene2Phenotype Phenotypes Mental retardation, autosomal recessive 57, 617188 Intellectual Disability Accompanied by Epilepsy and Autistic Features Autosomal recessive non-syndromic intellectual disability Tags
Green List (high evidence)	MBTPS2	3 reviews	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Emory Genetics Laboratory Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes 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 Tags
Green List (high evidence)	MDH2	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Epileptic encephalopathy, early infantile, 51 617339 Tags
Green List (high evidence)	MTOR	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Phenotypes Smith-Kingsmore syndrome, 616638 Intellectual Disability Focal cortical dysplasia, type II, somatic 607341 Tags missense somatic
Green List (high evidence)	NDST1	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Mental retardation, autosomal recessive 46, 616116 MRT46 Intellectual disability Tags
Green List (high evidence)	NFIA	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Phenotypes Brain malformations with or without urinary tract defects, 613735 BRMUTD Intellectual disability Chromosome 1p32-p31 deletion syndrome, included Tags deletions
Green List (high evidence)	NONO	2 reviews	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes 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 Tags
Green List (high evidence)	NT5C2	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Spastic paraplegia 45, autosomal recessive, 613162 Intellectual disability Tags
Amber List (moderate evidence)	CLCN2	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Amber Phenotypes 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 Tags
Amber List (moderate evidence)	GBA2	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Spastic paraplegia 46, autosomal recessive 614409 Tags
Amber List (moderate evidence)	GJB1	2 reviews	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Amber Radboud University Medical Center, Nijmegen Phenotypes Charcot-Marie-Tooth neuropathy, X-linked dominant, 1 302800 Tags
Amber List (moderate evidence)	GRIA1	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Phenotypes Intellectual disability Tags Autism Spectrum Disorder watchlist
Amber List (moderate evidence)	GSS	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Radboud University Medical Center, Nijmegen Phenotypes Glutathione synthetase deficiency 266130 Hemolytic anemia due to glutathione synthetase deficiency 231900 Tags
Amber List (moderate evidence)	HAX1	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Radboud University Medical Center, Nijmegen Phenotypes Neutropenia, severe congenital 3, autosomal recessive 610738 Tags watchlist
Amber List (moderate evidence)	HIST1H4C	2 reviews	Not set	Sources Expert Review Amber Gene2Phenotype Phenotypes Growth delay, microcephaly and intellectual disability Tags new-gene-name watchlist
Amber List (moderate evidence)	KLHL15	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Amber Phenotypes Mental retardation, X-linked 103, 300982 MRX103 Intellectual disability Tags deletions
Amber List (moderate evidence)	KMT2B	2 reviews	Not set	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Amber Phenotypes Dystonia 28, childhood-onset 617284 Tags watchlist
Amber List (moderate evidence)	MAPK10	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Phenotypes Lennox-Gastaut syndrome LGS Epileptic Encephalopathy Epileptic Encephalopathy Lennox-Gastaut type Tags watchlist
Amber List (moderate evidence)	MED23	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Radboud University Medical Center, Nijmegen Phenotypes Mental retardation, autosomal recessive 18, 614249 MRT18 Intellectual disability Tags watchlist
Amber List (moderate evidence)	MED25	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Basel-Vanagait-Smirin-Yosef syndrome, 616449 BVSYS Syndromic intellectual disability Congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome Tags founder-effect watchlist
Amber List (moderate evidence)	MIR17HG	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Phenotypes Feingold syndrome 2, 614326 FS2 Brachydactyly with short stature and microcephaly Intellectual disability Tags deletions locus-type-rna-long-non-coding watchlist
Amber List (moderate evidence)	NDUFAF2	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Leigh syndrome 256000 Mitochondrial complex I deficiency 252010 Tags
Red List (low evidence)	CLCN5	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes Dent disease 300009 Hypophosphatemic rickets 300554 Nephrolithiasis, type I 310468 Proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis 308990 Tags
Red List (low evidence)	CLCNKA	1 review 1 red	Not set	Sources Gene2Phenotype Phenotypes Bartter syndrome, type 4b, digenic, 613090 Infantile Bartter syndrome with sensorineural deafness, intellectual disability Tags polygenic
Red List (low evidence)	CLCNKB	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Radboud University Medical Center, Nijmegen Tags polygenic
Red List (low evidence)	CLIC2	1 review	Not set	Sources Emory Genetics Laboratory Expert Review Red Radboud University Medical Center, Nijmegen Tags
Red List (low evidence)	CMC4	1 review	Not set	Sources Expert Review Red Tags
Red List (low evidence)	CNKSR1	1 review	Not set	Sources Expert Review Red Phenotypes AUTOSOMAL RECESSIVE MENTAL RETARDATION (G2P) Tags
Red List (low evidence)	COA5	1 review	Not set	Sources Expert Review Red Phenotypes ?Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3 616500 MITOCHONDRIAL COMPLEX IV DEFICIENCY Tags
Red List (low evidence)	COL4A6	1 review	Not set	Sources Expert Review Red Phenotypes ?Deafness, X-linked 6 300914 Tags
Red List (low evidence)	COQ2	1 review	Not set	Sources Expert Review Red Radboud University Medical Center, Nijmegen Phenotypes Coenzyme Q10 deficiency, primary, 1 607426 {Multiple system atrophy, susceptibility to} 146500 Tags
Red List (low evidence)	COQ5	1 review 1 red	Not set	Sources Expert Review Red Tags
Red List (low evidence)	COX14	1 review	MITOCHONDRIAL	Sources Expert Review Red Phenotypes ?Mitochondrial complex IV deficiency 220110 Tags
Red List (low evidence)	CP	1 review 1 red	Not set	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Tags
Red List (low evidence)	CPA6	1 review 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Phenotypes Epilepsy, familial temporal lobe, 5 614417 AD, AR Febrile seizures, familial, 11 614418 Tags
Red List (low evidence)	FASN	1 review 1 red	Not set	Sources Expert Review Red Tags
Red List (low evidence)	GABRQ	2 reviews	Unknown	Sources Expert Review Red Phenotypes ASD schizophrenia migraine Tags
Red List (low evidence)	GAD1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Radboud University Medical Center, Nijmegen Phenotypes ?Cerebral palsy, spastic quadriplegic, 1 603513 Tags
Red List (low evidence)	GALNS	1 review	Not set	Sources Expert Review Red Tags
Red List (low evidence)	GCSH	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Radboud University Medical Center, Nijmegen Phenotypes Glycine encephalopathy 605899 Tags
Red List (low evidence)	GDAP1	1 review 1 red	Not set	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Tags
Red List (low evidence)	GLRA2	1 review	Not set	Sources Expert Review Red Phenotypes autism spectrum disorder Tags
Red List (low evidence)	GNAL	1 review 1 red	Not set	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Tags
Red List (low evidence)	GON4L	1 review	Not set	Sources Expert Review Red Tags
Red List (low evidence)	GOSR2	1 review 1 red	Not set	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Tags
Red List (low evidence)	GPHN	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Radboud University Medical Center, Nijmegen Phenotypes Molybdenum cofactor deficiency C 615501 Tags Autism Spectrum Disorder deletions treatable
Red List (low evidence)	GPRASP1	1 review	Not set	Sources Expert Review Red Tags
Red List (low evidence)	GRB14	1 review 1 red	Not set	Sources Expert Review Red Tags
Red List (low evidence)	GRIA2	1 review	Not set	Sources Expert Review Red Tags
Red List (low evidence)	GRN	1 review	Not set	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Tags
Red List (low evidence)	GTPBP8	1 review 1 red	Not set	Sources Expert Review Red Tags
Red List (low evidence)	HAUS7	1 review 1 red	Not set	Sources Expert Review Red Tags
Red List (low evidence)	HDAC6	1 review	Not set	Sources Expert Review Red Radboud University Medical Center, Nijmegen Phenotypes ?Chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia 300863 Tags
Red List (low evidence)	HIST1H4B	1 review 1 red	Not set	Sources Expert Review Red Tags new-gene-name
Red List (low evidence)	HIST3H3	1 review 1 red	Not set	Sources Expert Review Red Tags new-gene-name
Red List (low evidence)	HK1	1 review	Not set	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Tags
Red List (low evidence)	KLF8	1 review 1 red	Not set	Sources Emory Genetics Laboratory Expert Review Red Phenotypes Intellectual disability Tags
Red List (low evidence)	KLHL21	1 review 1 red	Not set	Sources Expert Review Red Tags
Red List (low evidence)	KLHL34	1 review 1 red	Not set	Sources Expert Review Red Tags
Red List (low evidence)	KLHL4	1 review	Not set	Sources Expert Review Red Tags
Red List (low evidence)	KRIT1	1 review	Not set	Sources Expert Review Red Tags
Red List (low evidence)	LAS1L	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Red Phenotypes Wilson-Turner syndrome 309585 Tags
Red List (low evidence)	LBR	1 review	Not set	Sources Expert Review Red Phenotypes ?Reynolds syndrome 613471 Greenberg skeletal dysplasia 215140 Pelger-Huet anomaly169400 HYDROPS-ECTOPIC CALCIFICATION-MOTH-EATEN SKELETAL DYSPLASIA Tags
Red List (low evidence)	LGI1	1 review	Not set	Sources Expert Review Red Phenotypes Epilepsy, familial temporal lobe, 1 600512 AUTOSOMAL DOMINANT PARTIAL EPILEPSY WITH AUDITORY FEATURES Tags
Red List (low evidence)	LHFPL3	1 review	Not set	Sources Expert Review Red Tags
Red List (low evidence)	LIMK1	1 review	Not set	Sources Expert Review Red Phenotypes Williams-Beuren syndrome 194050 Tags
Red List (low evidence)	LITAF	1 review	Not set	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Tags
Red List (low evidence)	LOXHD1	1 review	Not set	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Tags
Red List (low evidence)	LRAT	1 review	Not set	Sources Expert Review Red Tags
Red List (low evidence)	LRP1	1 review 1 red	Not set	Sources Expert Review Red Tags
Red List (low evidence)	LRRK1	1 review 1 red	Not set	Sources Expert Review Red Tags
Red List (low evidence)	LRRK2	1 review	Not set	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Tags
Red List (low evidence)	MAFB	1 review	Not set	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Phenotypes Duane retraction syndrome 3 (617041) Multicentric carpotarsal osteolysis syndrome (166300) Tags
Red List (low evidence)	MAGEA11	1 review 1 red	Not set	Sources Expert Review Red Tags
Red List (low evidence)	MAGEB1	1 review 1 red	Not set	Sources Expert Review Red Tags
Red List (low evidence)	MAGEB10	1 review 1 red	Not set	Sources Expert Review Red Tags
Red List (low evidence)	MAGEB2	1 review 1 red	Not set	Sources Expert Review Red Tags
Red List (low evidence)	MAGEC1	1 review 1 red	Not set	Sources Expert Review Red Tags
Red List (low evidence)	MAGEC3	1 review 1 red	Not set	Sources Expert Review Red Tags
Red List (low evidence)	MAGED1	1 review 1 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Red Phenotypes X-linked syndrome characterized by intellectual disability Tags
Red List (low evidence)	MAGEE2	1 review 1 red	Not set	Sources Expert Review Red Tags
Red List (low evidence)	MAGI2	1 review 1 red	Not set	Sources Expert Review Red Phenotypes Epileptic encephalopathy Infantile spasms Tags
Red List (low evidence)	MAGIX	1 review 1 red	Not set	Sources Expert Review Red Tags
Red List (low evidence)	MAGT1	1 review 1 red	Not set	Sources Expert Review Red Radboud University Medical Center, Nijmegen Phenotypes Immunodeficiency, X-linked, with magnesium defect, Epstein-Barr virus infection and neoplasia, 300853 Tags
Red List (low evidence)	MAOB	1 review 1 red	Not set	Sources Expert Review Red Tags
Red List (low evidence)	MAP3K15	1 review 1 red	Not set	Sources Expert Review Red Tags
Red List (low evidence)	MAP7D3	1 review 1 red	Not set	Sources Expert Review Red Phenotypes Intellectual disability Tags
Red List (low evidence)	MAPT	1 review	Not set	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Tags
Red List (low evidence)	MARS2	1 review	Not set	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Phenotypes ?Combined oxidative phosphorylation deficiency 25 (616430) (global developmental delay) Tags
Red List (low evidence)	MBNL3	1 review 1 red	Not set	Sources Expert Review Red Tags
Red List (low evidence)	MCEE	1 review	Not set	Sources Expert Review Red Phenotypes Methylmalonyl-CoA epimerase deficiency 251120 Tags
Red List (low evidence)	MECR	1 review	Not set	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Tags
Red List (low evidence)	MGAT5B	1 review 1 red	Not set	Sources Expert Review Red Tags
Red List (low evidence)	MIB1	1 review 1 red	Not set	Sources Expert Review Red Tags
Red List (low evidence)	MITF	1 review	Not set	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Tags
Red List (low evidence)	MLH1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes Mismatch repair cancer syndrome 276300 Tags
Red List (low evidence)	MORC4	1 review 1 red	Not set	Sources Expert Review Red Tags
Red List (low evidence)	MPDZ	1 review	Not set	Sources Expert Review Red Phenotypes Hydrocephalus, nonsyndromic, autosomal recessive 2 615219 Tags
Red List (low evidence)	MPZ	1 review	Not set	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Phenotypes 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) Tags
Red List (low evidence)	MRE11	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes Nijmegen breakage syndrome-like severe microcephaly, Intellectual disability Tags
Red List (low evidence)	MSL3	1 review 1 red	Not set	Sources Expert Review Red Tags
Red List (low evidence)	MT-ATP6	1 review	Not set	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Tags
Red List (low evidence)	MT-ND1	1 review	MITOCHONDRIAL	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Phenotypes 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 Tags
Red List (low evidence)	MT-ND4	2 reviews 1 red	MITOCHONDRIAL	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Phenotypes Mitochondrial complex I deficiency autism spectrum disorder intellectual disability Tags cnv
Red List (low evidence)	MT-TK	2 reviews 1 red	MITOCHONDRIAL	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Phenotypes MERRF syndrome 545000 MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOMYOPATHY SYNDROME Tags
Red List (low evidence)	MTF1	1 review 1 red	Not set	Sources Expert Review Red Tags
Red List (low evidence)	MTM1	1 review	Not set	Sources Emory Genetics Laboratory Expert Review Red Tags
Red List (low evidence)	MTMR1	1 review 1 red	Not set	Sources Expert Review Red Tags
Red List (low evidence)	MTMR14	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Gene2Phenotype Phenotypes {Centronuclear myopathy, autosomal, modifier of}, 160150 Autosomal dominant centronuclear myopathy Tags
Red List (low evidence)	MTMR2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Phenotypes Charcot-Marie-Tooth disease, type 4B, 601382 Tags
Red List (low evidence)	MTMR8	1 review 1 red	Not set	Sources Expert Review Red Tags
Red List (low evidence)	MTPAP	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Phenotypes ?Spastic ataxia 4, autosomal recessive 613672 Tags
Red List (low evidence)	MTTP	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes Abetalipoproteinemia, 200100 Tags
Red List (low evidence)	MVK	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Radboud University Medical Center, Nijmegen Phenotypes Mevalonic aciduria 610377 Tags
Red List (low evidence)	MXRA5	1 review 1 red	Not set	Sources Expert Review Red Tags
Red List (low evidence)	MYBPC1	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Phenotypes Arthrogryposis, distal, type 1B 614335 AD Lethal congenital contracture syndrome 4 614915 AR Tags
Red List (low evidence)	MYH10	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Gene2Phenotype Phenotypes MYH10-related Multiple congenital anomalies, Intellectual disability Tags
Red List (low evidence)	MYO1D	1 review 1 red	Not set	Sources Expert Review Red Tags
Red List (low evidence)	MYO1G	1 review 1 red	Not set	Sources Expert Review Red Tags
Red List (low evidence)	NADK2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Literature Phenotypes ?2,4-dienoyl-CoA reductase deficiency 616034 Tags
Red List (low evidence)	NDN	1 review	Not set	Sources Literature Phenotypes Smith-Magenis-like syndrome Tags
Red List (low evidence)	NDRG1	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Phenotypes Charcot-Marie-Tooth disease, type 4D, 601455 Tags
Red List (low evidence)	NDUFA10	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Gene2Phenotype Phenotypes Leigh syndrome, 256000 Leigh disease with leukodystrophy Nuclear Gene-Encoded Leigh syndrome Tags
Red List (low evidence)	NDUFA11	1 review	Not set	Sources Expert Review Red Radboud University Medical Center, Nijmegen Phenotypes Mitochondrial complex I deficiency 252010 Tags
Red List (low evidence)	NDUFA12	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Radboud University Medical Center, Nijmegen Phenotypes Leigh syndrome due to mitochondrial complex 1 deficiency 256000 Tags
Red List (low evidence)	NDUFA9	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Gene2Phenotype Phenotypes Leigh syndrome due to mitochondrial complex I deficiency, 256000 Leigh disease with leukodystrophy Nuclear Gene-Encoded Leigh syndrome Tags
Red List (low evidence)	NDUFAF3	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Literature Phenotypes Mitochondrial complex I deficiency 252010 Tags
Red List (low evidence)	NDUFS2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Radboud University Medical Center, Nijmegen Phenotypes Mitochondrial complex I deficiency 252010 Tags
Red List (low evidence)	NDUFS3	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Radboud University Medical Center, Nijmegen Phenotypes Leigh syndrome due to mitochondrial complex I deficiency 256000 Mitochondrial complex I deficiency 252010 Tags
Red List (low evidence)	NEB	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Gene2Phenotype Phenotypes Nemaline myopathy 2, autosomal recessive, 256030 Tags
Red List (low evidence)	NECAB2	1 review 1 red	Not set	Sources Expert Review Red Tags
Red List (low evidence)	NEDD4L	1 review 1 red	Not set	Sources Expert Review Red Tags
Red List (low evidence)	NEFL	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Phenotypes Charcot Marie Tooth disease, type 2E, 607684 Charcot Marie Tooth disease, type 1F, 607734 Tags
Red List (low evidence)	NHEJ1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Phenotypes Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation 611291 Tags
Red List (low evidence)	NHLRC1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Phenotypes Epilepsy, progressive myoclonic 2B (Lafora), 254780 Tags
Red List (low evidence)	NHP2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Gene2Phenotype Phenotypes Dyskeratosis congenita, autosomal recessive 2, 613987 Tags
Red List (low evidence)	NIPA1	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Phenotypes Spastic paraplegia 6, autosomal dominant, 600363 Non Imprinted In Prader-Willi/Angelman Syndrome 1 Tags
Red List (low evidence)	NKAP	1 review 1 red	Not set	Sources Expert Review Red Tags
Red List (low evidence)	NLGN4X	1 review 1 red	Not set	Sources Emory Genetics Laboratory Expert Review Red Tags
Red List (low evidence)	NLRP3	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Radboud University Medical Center, Nijmegen Tags
Red List (low evidence)	NOP56	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Phenotypes Spinocerebellar ataxia 36, 614153 Tags
Red List (low evidence)	NR1I3	1 review 1 red	Not set	Sources Expert Review Red Phenotypes EHMT1-like Intellectual disability Tags
Red List (low evidence)	NRK	1 review 1 red	Not set	Sources Expert Review Red Phenotypes Hypermobility syndrome Sotos syndrome Tags
Red List (low evidence)	NRXN3	1 review 1 red	Not set	Sources Expert Review Red Phenotypes Autism spectrum disorder Tags microdeletion
Red List (low evidence)	NTM	1 review 1 red	Not set	Sources Expert Review Red Tags
Red List (low evidence)	PUDP	1 review 1 red	Not set	Sources Expert Review Red Tags
Red List (low evidence)	RUBCN	1 review 1 red	Not set	Sources Expert Review Red Tags
Red List (low evidence)	SVBP	1 review 1 red	Not set	Sources Expert Review Red Tags

Intellectual disability update Jan 2018 (Version 0.483)

6 reviewers

162 Entities

162 reviewed, 22 green

1 review

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2 reviews

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1 review

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2 reviews

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2 reviews

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1 review

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2 reviews

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3 reviews

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3 reviews

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2 reviews

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2 reviews

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2 reviews

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