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 AAAS gene AAAS Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Achalasia-addisonianism-alacrimia syndrome, MIM#231550 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 3 100;0;0 1.63 True ENSG00000094914 ENSG00000094914 HGNC:13666 AARS gene AARS Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Epileptic encephalopathy, early infantile, 29, MIM# 616339 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 28493438;25817015 False 3 100;0;0 1.63 True ENSG00000090861 ENSG00000090861 HGNC:20 ABAT gene ABAT Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal GABA-transaminase deficiency, MIM#613163 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 10407778;20052547;27596361;28411234, False 3 0;0;0 1.63 True ENSG00000183044 ENSG00000183044 HGNC:23 ABCA2 gene ABCA2 Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Intellectual developmental disorder with poor growth and with or without seizures or ataxia, 618808 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 30237576;29302074;31047799 False 3 100;0;0 1.63 True ENSG00000107331 ENSG00000107331 HGNC:32 ABCC9 gene ABCC9 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Intellectual disability and myopathy syndrome, MIM# 619719;Hypertrichotic osteochondrodysplasia, MIM# 239850 Cantu syndrome Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 3 100;0;0 1.63 True ENSG00000069431 ENSG00000069431 HGNC:60 ABCD1 gene ABCD1 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Adrenoleukodystrophy, MIM# 300100 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 3 100;0;0 1.63 True ENSG00000101986 ENSG00000101986 HGNC:61 ABCD4 gene ABCD4 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Methylmalonic aciduria and homocystinuria, cblJ type, MIM# 614857 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 22922874;31113616;30651581;28572511;33729671 False 3 100;0;0 1.63 True ENSG00000119688 ENSG00000119688 HGNC:68 ABHD16A gene ABHD16A Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia 86, autosomal recessive, MIM# 619735;Intellectual Disability;Corpus callosum abnormalities Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 PMID: 34587489 False 3 100;0;0 1.63 True ENSG00000204427 ENSG00000204427 HGNC:13921 ABHD5 gene ABHD5 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Chanarin-Dorfman syndrome MIM#275630;neutral lipid storage disease with ichthyosis;non-bullous congenital ichthyosiform erythroderma Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 30795549 False 3 100;0;0 1.63 True ENSG00000011198 ENSG00000011198 HGNC:21396 ACAD9 gene ACAD9 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 20 MIM#611126 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 30025539 False 3 100;0;0 1.63 True ENSG00000177646 ENSG00000177646 HGNC:21497 ACADM gene ACADM Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Acyl-CoA dehydrogenase, medium chain, deficiency of, MIM# 201450 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 3 100;0;0 1.63 True ENSG00000117054 ENSG00000117054 HGNC:89 ACBD6 gene ACBD6 Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with progressive movement abnormalities, MIM# 620785 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 36457943;21937992;35446914 False 3 100;0;0 1.63 True ENSG00000230124 ENSG00000230124 HGNC:23339 ACO2 gene ACO2 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Infantile cerebellar-retinal degeneration, MIM#614559 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 22405087;25351951;30689204;32519519;25351951 False 3 100;0;0 1.63 True ENSG00000100412 ENSG00000100412 HGNC:118 ACOX1 gene ACOX1 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Peroxisomal acyl-CoA oxidase deficiency, MIM# 264470;Mitchell syndrome, MIM# 618960 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 32169171;17458872 False 3 100;0;0 1.63 True ENSG00000161533 ENSG00000161533 HGNC:119 ACSL4 gene ACSL4 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders 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 63, MIM# 300387 XLD Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 11889465;12525535 False 3 100;0;0 1.63 True ENSG00000068366 ENSG00000068366 HGNC:3571 ACTB gene ACTB Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Baraitser-Winter syndrome 1, MIM# 243310;Thrombocytopenia 8, with dysmorphic features and developmental delay, MIM# 620475;ACTB-related neurodevelopment disorder Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 29220674 False 3 100;0;0 1.63 True ENSG00000075624 ENSG00000075624 HGNC:132 ACTG1 gene ACTG1 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Baraitser-Winter syndrome 2, MIM#614583 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 3 100;0;0 1.63 True ENSG00000184009 ENSG00000184009 HGNC:144 ACTL6A gene ACTL6A Expert Review Green;Genetic Health Queensland;Victorian Clinical Genetics Services Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental disorder, MONDO:0700092, ACTL6A-related Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 28649782 False 3 100;0;0 1.63 True ENSG00000136518 ENSG00000136518 HGNC:24124 ACTL6B gene ACTL6B Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal "Epileptic encephalopathy, early infantile, 76, MIM# 618468;Intellectual developmental disorder with severe speech and ambulation defects, MIM# 618470" Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 31134736;31031012;30656450;30237576 False 3 100;0;0 1.63 True ENSG00000077080 ENSG00000077080 HGNC:160 ACY1 gene ACY1 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Aminoacylase 1 deficiency, MIM# 609924 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 16274666;16465618;17562838;24117009 False 3 100;0;0 1.63 True ENSG00000243989 ENSG00000243989 HGNC:177 ADAM22 gene ADAM22 Expert Review;Expert Review Green Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Developmental and epileptic encephalopathy 61 (MIM#617933) Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 27066583;30237576 False 3 50;50;0 1.63 True ENSG00000008277 ENSG00000008277 HGNC:201 ADAMTS10 gene ADAMTS10 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Weill-Marchesani syndrome 1, recessive, MIM#277600 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 3 100;0;0 1.63 True ENSG00000142303 ENSG00000142303 HGNC:13201 ADAR gene ADAR Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Aicardi-Goutieres syndrome 6, MIM# 615010 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 3 100;0;0 1.63 True ENSG00000160710 ENSG00000160710 HGNC:225 ADARB1 gene ADARB1 Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with hypotonia, microcephaly, and seizures, 618862;Intellectual disability;microcephaly;seizures Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 32220291;32719099 False 3 100;0;0 1.63 True ENSG00000197381 ENSG00000197381 HGNC:226 ADAT3 gene ADAT3 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mental retardation, autosomal recessive 36, MIM#615286 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 23620220;26842963;29796286 False 3 100;0;0 1.63 True ENSG00000213638 ENSG00000213638 HGNC:25151 ADD1 gene ADD1 Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Neurodevelopmental disorder MONDO:0700092, ADD1-related;Intellectual disability, corpus callosum dysgenesis, and ventriculomegaly;no OMIM # Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 PMID: 34906466 False 3 100;0;0 1.63 True ENSG00000087274 ENSG00000087274 HGNC:243 ADD3 gene ADD3 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Cerebral palsy, spastic quadriplegic, 3, MIM#617008 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 29768408;23836506 False 3 100;0;0 1.63 True ENSG00000148700 ENSG00000148700 HGNC:245 ADGRG1 gene ADGRG1 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Polymicrogyria, bilateral frontoparietal, MIM# 606854 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 16240336 False 3 100;0;0 1.63 True ENSG00000205336 ENSG00000205336 HGNC:4512 ADGRL1 gene ADGRL1 Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Developmental delay, behavioral abnormalities, and neuropsychiatric disorders, MIM# 620065 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 PMID: 35907405 False 3 100;0;0 1.63 True ENSG00000072071 ENSG00000072071 HGNC:20973 ADK gene ADK Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Hypermethioninemia due to adenosine kinase deficiency, MIM# 614300 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 21963049;17120046 False 3 100;0;0 1.63 True ENSG00000156110 ENSG00000156110 HGNC:257 ADNP gene ADNP Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Helsmoortel-van der Aa syndrome MIM#615873;MONDO:0014379 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 24531329;25057125;25533962;29724491;29911927 False 3 100;0;0 1.63 True ENSG00000101126 ENSG00000101126 HGNC:15766 ADSL gene ADSL Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Adenylosuccinase deficiency, MIM# 103050 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 3 100;0;0 1.63 True ENSG00000239900 ENSG00000239900 HGNC:291 AFF2 gene AFF2 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Intellectual disability, X-linked, FRAXE type 309548 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 8334699;21739600;22773736 False 3 100;0;0 1.63 True ENSG00000155966 ENSG00000155966 HGNC:3776 AFF3 gene AFF3 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted KINSSHIP syndrome, MIM# 619297 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 31388108;33961779 False 3 100;0;0 1.63 True ENSG00000144218 ENSG00000144218 HGNC:6473 AFF4 gene AFF4 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted CHOPS syndrome, MIM#616368;MONDO:0014609 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 25730767;33248856;31630891;31058441 False 3 100;0;0 1.63 True Other ENSG00000072364 ENSG00000072364 HGNC:17869 AGA gene AGA Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Aspartylglucosaminuria, MIM#208400 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 3 100;0;0 1.63 True ENSG00000038002 ENSG00000038002 HGNC:318 AGMO gene AGMO Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder, MONDO:0700092, AGMO-related Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 31555905;27000257 False 3 100;0;0 1.63 True ENSG00000187546 ENSG00000187546 HGNC:33784 AGO1 gene AGO1 Expert list;Expert Review Green Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental disorder with language delay and behavioral abnormalities, with or without seizures, MIM# 620292 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 30213762;22495306;23020937;25363768;25356899;27620904;29346770;28135719 False 3 100;0;0 1.63 True ENSG00000092847 ENSG00000092847 HGNC:3262 AGO2 gene AGO2 Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Lessel-Kreienkamp syndrome (LESKRES), MIM#619149;Intellectual disability Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 33199684 False 3 100;0;0 1.63 True ENSG00000123908 ENSG00000123908 HGNC:3263 AGTPBP1 gene AGTPBP1 Expert Review Green;NHS GMS Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Early onset cerebellar atrophy, developmental delay, and feeding and respiratory difficulties, severe motor neuronopathy;Neurodegeneration, childhood-onset, with cerebellar atrophy, 618276 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 30420557 False 3 100;0;0 1.63 True ENSG00000135049 ENSG00000135049 HGNC:17258 AHCY gene AHCY Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase, MIM#613752 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 31957987;27671891;30121674;28779239 False 3 100;0;0 1.63 True ENSG00000101444 ENSG00000101444 HGNC:343 AHDC1 gene AHDC1 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Xia-Gibbs syndrome, MIM# 615829;AHDC1-related intellectual disability, obstructive sleep apnoea, mild dysmorphism syndrome MONDO:0014358 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 24791903;27148574;30152016 False 3 100;0;0 1.63 True ENSG00000126705 ENSG00000126705 HGNC:25230 AHI1 gene AHI1 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Joubert Syndrome 3 OMIM #608629 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 15322546;16453322;21937992 False 3 100;0;0 1.63 True ENSG00000135541 ENSG00000135541 HGNC:21575 AIFM1 gene AIFM1 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Combined oxidative phosphorylation deficiency 6, 300816;Cowchock syndrome, 310490;Spondyloepimetaphyseal dysplasia, X-linked, with hypomyelinating leukodystrophy, 300232 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 3 100;0;0 1.63 True ENSG00000156709 ENSG00000156709 HGNC:8768 AIMP1 gene AIMP1 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Intellectual disability;Leukodystrophy, hypomyelinating, 3, MIM# 260600 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 26173967;21092922;24958424;33402283;32531460;30486714;30477741 False 3 100;0;0 1.63 True ENSG00000164022 ENSG00000164022 HGNC:10648 AJAP1 gene AJAP1 Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted neurodevelopmental disorder, MONDO:0700092, AJAP1-related Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 38985877 False 3 100;0;0 1.63 True ENSG00000196581 ENSG00000196581 HGNC:30801 AKT3 gene AKT3 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2, MIM# 615937 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 22729224;22729223;35665751;34354878;32446860;31441589 False 3 100;0;0 1.63 True ENSG00000117020 ENSG00000117020 HGNC:393 ALDH18A1 gene ALDH18A1 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Spastic paraplegia 9B, autosomal recessive, MIM# 616586 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 3 100;0;0 1.63 True ENSG00000059573 ENSG00000059573 HGNC:9722 ALDH3A2 gene ALDH3A2 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Sjogren-Larsson syndrome MIM#270200;spasticity;ichthyosis;intellectual disability Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 31273323 False 3 100;0;0 1.63 True ENSG00000072210 ENSG00000072210 HGNC:403 ALDH4A1 gene ALDH4A1 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Hyperprolinemia, type II MIM#239510;disorders of ornithine or proline metabolism Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 9700195;34037900;31884946 False 3 100;0;0 1.63 True ENSG00000159423 ENSG00000159423 HGNC:406 ALDH5A1 gene ALDH5A1 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Succinic semialdehyde dehydrogenase deficiency, MIM# 271980 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 14635103 False 3 100;0;0 1.63 True ENSG00000112294 ENSG00000112294 HGNC:408 ALDH7A1 gene ALDH7A1 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Epilepsy, pyridoxine-dependent, MIM# 266100 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 33200442 False 3 100;0;0 1.63 True ENSG00000164904 ENSG00000164904 HGNC:877 ALG1 gene ALG1 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type Ik, MIM# 608540 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 26931382 False 3 100;0;0 1.63 True ENSG00000033011 ENSG00000033011 HGNC:18294 ALG11 gene ALG11 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type Ip, MIM# 613661 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 30676690 False 3 100;0;0 1.63 True ENSG00000253710 ENSG00000253710 HGNC:32456 ALG12 gene ALG12 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type Ig, MIM# 607143 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 31481313 False 3 100;0;0 1.63 True ENSG00000182858 ENSG00000182858 HGNC:19358 ALG13 gene ALG13 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Congenital disorder of glycosylation, type Is (MIM# 300884) Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 23033978;23934111;24781210;24896178;25732998;26138355;26482601;28940310;32238909 False 3 100;0;0 1.63 True ENSG00000101901 ENSG00000101901 HGNC:30881 ALG14 gene ALG14 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Intellectual developmental disorder with epilepsy, behavioral abnormalities, and coarse facies (IDDEBF), MIM#619031;Myopathy, epilepsy, and progressive cerebral atrophy, MIM# 619036 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 30221345;23404334;28733338 False 3 100;0;0 1.63 True ENSG00000172339 ENSG00000172339 HGNC:28287 ALG3 gene ALG3 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type Id, MIM# 601110 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 31067009 False 3 100;0;0 1.63 True ENSG00000214160 ENSG00000214160 HGNC:23056 ALG6 gene ALG6 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type Ic (MIM#603147) Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 10914684;27498540 False 3 100;0;0 1.63 True ENSG00000088035 ENSG00000088035 HGNC:23157 ALG8 gene ALG8 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type Ih, MIM# 608104 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 26066342;35716054 False 3 100;0;0 1.63 True ENSG00000159063 ENSG00000159063 HGNC:23161 ALG9 gene ALG9 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type Il, MIM#608776 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 28932688 False 3 100;0;0 1.63 True ENSG00000086848 ENSG00000086848 HGNC:15672 ALKBH8 gene ALKBH8 Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Intellectual developmental disorder, autosomal recessive 71, MIM#618504 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 31079898 False 3 100;0;0 1.63 True ENSG00000137760 ENSG00000137760 HGNC:25189 ALMS1 gene ALMS1 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Alstrom syndrome, MIM# 203800 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 27142762;25846608;18154657;25296579;17146208;17940554;22043170;31889847;2231654;8418611;8181924;8556827;9663233;25864795;8556827;11941369 False 3 50;0;50 1.63 True ENSG00000116127 ENSG00000116127 HGNC:428 AMER1 gene AMER1 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Osteopathia striata with cranial sclerosis, OMIM:300373 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 19079258;22987541;23401208;28497491;32879452;35186393;20950377;22043478 False 3 100;0;0 1.63 True ENSG00000184675 ENSG00000184675 HGNC:26837 AMOTL1 gene AMOTL1 Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Orofacial clefting syndrome, MONDO:0015335, AMOTL1-related Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 36751037 False 3 100;0;0 1.63 True ENSG00000166025 ENSG00000166025 HGNC:17811 AMPD2 gene AMPD2 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Pontocerebellar hypoplasia, type 9, MIM#615809 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 23911318;27066553 False 3 100;0;0 1.63 True ENSG00000116337 ENSG00000116337 HGNC:469 AMT gene AMT Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Glycine encephalopathy MIM#605899 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 3 100;0;0 1.63 True ENSG00000145020 ENSG00000145020 HGNC:473 ANK2 gene ANK2 Expert Review Green;Other Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Complex neurodevelopmental disorder, MONDO:0100038 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 22542183;25363768;27479843;28554332;30564305;30755392;31981491;33004838;33057194 False 3 100;0;0 1.63 True ENSG00000145362 ENSG00000145362 HGNC:493 ANK3 gene ANK3 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Mental retardation, autosomal recessive, 37 615493;Intellectual disability, autosomal dominant Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 23390136;28687526 False 3 100;0;0 1.63 True ENSG00000151150 ENSG00000151150 HGNC:494 ANKRD11 gene ANKRD11 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted KBG syndrome, MIM # 148050 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 3 100;0;0 1.63 True ENSG00000167522 ENSG00000167522 HGNC:21316 ANKRD17 gene ANKRD17 Expert Review Green;Research Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Chopra-Amiel-Gordan syndrome, MIM# 619504;Intellectual disability;dysmorphic features Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 33909992 False 3 50;50;0 1.63 True ENSG00000132466 ENSG00000132466 HGNC:23575 ANO4 gene ANO4 Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted neurodevelopmental disorder MONDO:0700092, ANO4-related Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 38744284 False 3 100;0;0 1.63 True ENSG00000151572 ENSG00000151572 HGNC:23837 AP1B1 gene AP1B1 Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Intellectual disability;enteropathy;deafness;ichthyosis;keratoderma Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 31630788;31630791 False 3 100;0;0 1.63 True ENSG00000100280 ENSG00000100280 HGNC:554 AP1G1 gene AP1G1 Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Usmani-Riazuddin syndrome, autosomal dominant, MIM# 619467;Usmani-Riazuddin syndrome, autosomal recessive, MIM# 619548;Neurodevelopmental disorder (NDD);Intellectual Disability;Epilepsy Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 34102099 False 3 100;0;0 1.63 True ENSG00000166747 ENSG00000166747 HGNC:555 AP1S1 gene AP1S1 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal MEDNIK syndrome, MIM# 609313 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 30244301;24754424;19057675;23423674 False 3 100;0;0 1.63 True ENSG00000106367 ENSG00000106367 HGNC:559 AP1S2 gene AP1S2 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Pettigrew syndrome, MIM# 304340 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 17186471;17617514;19377476;30714330;23756445 False 3 100;0;0 1.63 True ENSG00000182287 ENSG00000182287 HGNC:560 AP2M1 gene AP2M1 Expert list;Expert Review Green Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Intellectual developmental disorder 60 with seizures, MIM# 618587" Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 31104773 False 3 100;0;0 1.63 True ENSG00000161203 ENSG00000161203 HGNC:564 AP3B1 gene AP3B1 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Hermansky-Pudlak syndrome 2, MIM# 608233;MONDO:0011997 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 10024875;11809908;14566336 False 3 100;0;0 1.63 True ENSG00000132842 ENSG00000132842 HGNC:566 AP3B2 gene AP3B2 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Early-onset epileptic encephalopathy with optic atrophy, MIM#617276 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 27889060 False 3 100;0;0 1.63 True ENSG00000103723 ENSG00000103723 HGNC:567 AP4B1 gene AP4B1 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia 47, autosomal recessive, MIM# 614066 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 21620353;22290197;24700674;24781758;32979048;32171285;32166732;31525725;31525725 False 3 100;0;0 1.63 True ENSG00000134262 ENSG00000134262 HGNC:572 AP4E1 gene AP4E1 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia 51, autosomal recessive, MIM# 613744 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 20972249;21620353;21937992 False 3 100;0;0 1.63 True ENSG00000081014 ENSG00000081014 HGNC:573 AP4M1 gene AP4M1 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia 50, autosomal recessive, MIM# 612936 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 19559397;21937992;21937992;32979048;31915823;29096665;28464862;25496299 False 3 100;0;0 1.63 True ENSG00000221838 ENSG00000221838 HGNC:574 AP4S1 gene AP4S1 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia 52, autosomal recessive, MIM# 614067 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 21620353;25552650;32979048;32216065;31915823;30283821;27444738 False 3 100;0;0 1.63 True ENSG00000100478 ENSG00000100478 HGNC:575 APC2 gene APC2 Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Cortical dysplasia, complex, with other brain malformations 10, MIM#618677 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 31585108 False 3 100;0;0 1.63 True ENSG00000115266 ENSG00000115266 HGNC:24036 APOPT1 gene APOPT1 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex IV deficiency, nuclear type 17, MIM#619061 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 25175347 False 3 100;0;0 1.63 True ENSG00000256053 ENSG00000256053 HGNC:20492 ARCN1 gene ARCN1 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay (MIM#617164) Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 27476655;33154040 False 3 100;0;0 1.63 True ENSG00000095139 ENSG00000095139 HGNC:649 ARF1 gene ARF1 Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Periventricular nodular heterotopia 8, MIM# 618185 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 28868155;34353862 False 3 100;0;0 1.63 True ENSG00000143761 ENSG00000143761 HGNC:652 ARF3 gene ARF3 Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Neurodevelopmental disorder (MONDO:0700092), ARF3-related;Global developmental delay;Intellectual disability;Seizures;Morphological abnormality of the central nervous system Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 34346499;36369169 False 3 50;50;0 1.63 True ENSG00000134287 ENSG00000134287 HGNC:654 ARFGEF1 gene ARFGEF1 Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Developmental delay, impaired speech, and behavioral abnormalities, MIM# 619964 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 34113008 False 3 100;0;0 1.63 True ENSG00000066777 ENSG00000066777 HGNC:15772 ARFGEF2 gene ARFGEF2 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Periventricular heterotopia with microcephaly (MIM#608097) Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 25160555;26126837;23812912 False 3 100;0;0 1.63 True ENSG00000124198 ENSG00000124198 HGNC:15853 ARG1 gene ARG1 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Argininaemia MIM#207800 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 3 100;0;0 1.63 True ENSG00000118520 ENSG00000118520 HGNC:663 ARHGAP35 gene ARHGAP35 Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted neurodevelopmental disorder, ARHGAP35-related MONDO#0700092 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 33057194 False 3 50;50;0 1.63 True ENSG00000160007 ENSG00000160007 HGNC:4591 ARHGEF9 gene ARHGEF9 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Developmental and epileptic encephalopathy 8, MIM# 300607 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 31942680;30048823;29130122;28620718;33600053;32939676 False 3 100;0;0 1.63 True ENSG00000131089 ENSG00000131089 HGNC:14561 ARID1A gene ARID1A Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Coffin-Siris syndrome 2 (MIM#614607) Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 23929686;22426308;25168959 False 3 100;0;0 1.63 True ENSG00000117713 ENSG00000117713 HGNC:11110 ARID1B gene ARID1B Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Coffin-Siris syndrome 1, MIM 135900 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 25674384;30349098;26506440 False 3 100;0;0 1.63 True ENSG00000049618 ENSG00000049618 HGNC:18040 ARID2 gene ARID2 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Coffin-Siris syndrome 6, MIM# 617808" Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 26238514;30838730;29698805;28884947;28124119 False 3 100;0;0 1.63 True ENSG00000189079 ENSG00000189079 HGNC:18037 ARL13B gene ARL13B Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 8, MIM# 612291 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 18674751;25138100;26092869;27894351;29255182;17488627 False 3 100;0;0 1.63 True ENSG00000169379 ENSG00000169379 HGNC:25419 ARL6 gene ARL6 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Bardet-Biedl syndrome 3, MIM# 600151 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 15258860;32361989;31888296;25402481 False 3 100;0;0 1.63 True ENSG00000113966 ENSG00000113966 HGNC:13210 ARMC9 gene ARMC9 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 30, MIM# 617622 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 28625504 False 3 100;0;0 1.63 True ENSG00000135931 ENSG00000135931 HGNC:20730 ARPC4 gene ARPC4 Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Developmental delay, language impairment, and ocular abnormalities, MIM# 620141 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 35047857 False 3 100;0;0 1.63 True ENSG00000241553 ENSG00000241553 HGNC:707 ARSA gene ARSA Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Metachromatic leukodystrophy, MIM# 250100 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 3 100;0;0 1.63 True ENSG00000100299 ENSG00000100299 HGNC:713 ARSB gene ARSB Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mucopolysaccharidosis type VI (Maroteaux-Lamy), MIM# 253200;MONDO:0009661 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 11668612 False 3 100;0;0 1.63 True ENSG00000113273 ENSG00000113273 HGNC:714 ARSE gene ARSE Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Chondrodysplasia punctata, X-linked recessive, MIM# 302950 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 20301713 False 3 100;0;0 1.63 True ENSG00000157399 ENSG00000157399 HGNC:719 ARV1 gene ARV1 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Developmental and epileptic encephalopathy 38, MIM# 617020 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 35227294;27270415;25558065 False 3 100;0;0 1.63 True ENSG00000173409 ENSG00000173409 HGNC:29561 ARX gene ARX Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Lissencephaly, X-linked 2, MIM# 300215 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 3 100;0;0 1.63 True ENSG00000004848 ENSG00000004848 HGNC:18060 ASAH1 gene ASAH1 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Farber lipogranulomatosis MIM #228000 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 32875576 False 3 100;0;0 1.63 True ENSG00000104763 ENSG00000104763 HGNC:735 ASCC3 gene ASCC3 Expert Review;Expert Review Green Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Intellectual developmental disorder, autosomal recessive 81, MIM# 620700 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 21937992;35047834 False 3 100;0;0 1.63 True ENSG00000112249 ENSG00000112249 HGNC:18697 ASH1L gene ASH1L Expert list;Expert Review Green Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Mental retardation, autosomal dominant 52, MIM#617796 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 23033978;25961944;28394464;28191889;27824329 False 3 100;0;0 1.63 True ENSG00000116539 ENSG00000116539 HGNC:19088 ASL gene ASL Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Argininosuccinic aciduria, MIM#207900 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 3 100;0;0 1.63 True ENSG00000126522 ENSG00000126522 HGNC:746 ASNS gene ASNS Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders Unknown Asparagine synthetase deficiency, MIM#615574 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 3 100;0;0 1.63 True ENSG00000070669 ENSG00000070669 HGNC:753 ASPA gene ASPA Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Canavan disease MIM#271900 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 3 100;0;0 1.63 True ENSG00000108381 ENSG00000108381 HGNC:756 ASPM gene ASPM Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Microcephaly 5, primary, autosomal recessive, MIM#608716 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 29243349;19028728 False 3 100;0;0 1.63 True ENSG00000066279 ENSG00000066279 HGNC:19048 ASS1 gene ASS1 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Citrullinemia MIM#215700 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 3 100;0;0 1.63 True ENSG00000130707 ENSG00000130707 HGNC:758 ASTN1 gene ASTN1 Expert list;Expert Review Green Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 29706646;27431290;26539891 False 3 100;0;0 1.63 True ENSG00000152092 ENSG00000152092 HGNC:773 ASXL1 gene ASXL1 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Bohring-Opitz syndrome , MIM#605039 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 29446906;21706002 False 3 100;0;0 1.63 True ENSG00000171456 ENSG00000171456 HGNC:18318 ASXL2 gene ASXL2 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Shashi-Pena syndrome, MIM# 617190 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 27693232;33751773 False 3 100;0;0 1.63 True ENSG00000143970 ENSG00000143970 HGNC:23805 ASXL3 gene ASXL3 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Bainbridge-Ropers syndrome (OMIM # 615485) Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 28100473;27901041;23383720 False 3 100;0;0 1.63 True ENSG00000141431 ENSG00000141431 HGNC:29357 ATAD1 gene ATAD1 Expert list;Expert Review Green Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Hyperekplexia 4, MIM#618011 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 28180185 False 3 100;0;0 1.63 True ENSG00000138138 ENSG00000138138 HGNC:25903 ATAD3A gene ATAD3A Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Harel-Yoon syndrome, MIM# 617183;Pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal (PHRINL SYNDROME) 618810 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 27640307;32004445;28549128 False 3 100;0;0 1.63 True Other ENSG00000197785 ENSG00000197785 HGNC:25567 ATG4D gene ATG4D Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder, MONDO:0700092, ATG4D-related Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 PMID: 36765070 False 3 100;0;0 1.63 True ENSG00000130734 ENSG00000130734 HGNC:20789 ATG7 gene ATG7 Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Spinocerebellar ataxia, SCAR31, MIM#619422 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 34161705 False 3 100;0;0 1.63 True ENSG00000197548 ENSG00000197548 HGNC:16935 ATIC gene ATIC Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal AICA-ribosiduria due to ATIC deficiency, MIM# 608688 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 15114530;32557644 False 3 100;0;0 1.63 True ENSG00000138363 ENSG00000138363 HGNC:794 ATN1 gene ATN1 Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Congenital hypotonia, epilepsy, developmental delay, and digital anomalies, MIM#618494 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 30827498 False 3 100;0;0 1.63 True ENSG00000111676 ENSG00000111676 HGNC:3033 ATP1A1 gene ATP1A1 Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Intellectual disability;seizures;hypomagnesaemia Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 30388404 False 3 100;0;0 1.63 True ENSG00000163399 ENSG00000163399 HGNC:799 ATP1A2 gene ATP1A2 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Alternating hemiplegia of childhood 1, MIM# 104290;Developmental and epileptic encephalopathy 98, MIM# 619605 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 33880529 False 3 100;0;0 1.63 True ENSG00000018625 ENSG00000018625 HGNC:800 ATP1A3 gene ATP1A3 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Alternating hemiplegia of childhood 2, MIM#614820;Developmental and epileptic encephalopathy, polymicrogyria Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 33880529 False 3 100;0;0 1.63 True ENSG00000105409 ENSG00000105409 HGNC:801 ATP2B1 gene ATP2B1 Expert list;Expert Review Green Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Intellectual developmental disorder, autosomal dominant 66, MIM# 619910 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 PMID: 35358416 False 3 100;0;0 1.63 True ENSG00000070961 ENSG00000070961 HGNC:814 ATP2B2 gene ATP2B2 Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental Disorder, MONDO:0700092, ATP2B2-related Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 PMID: 37675773 False 3 100;0;0 1.63 True Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000157087 ENSG00000157087 HGNC:815 ATP5O gene ATP5O Expert list;Expert Review Green Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex V (ATP synthase) deficiency, nuclear type 7, MIM# 620359 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 35621276;34954817 False 3 100;0;0 1.63 True ENSG00000241837 ENSG00000241837 HGNC:850 ATP6AP1 gene ATP6AP1 Expert list;Expert Review Green Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Immunodeficiency 47, MIM#300972 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 27231034 False 3 100;0;0 1.63 True ENSG00000071553 ENSG00000071553 HGNC:868 ATP6AP2 gene ATP6AP2 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Congenital disorder of glycosylation, type IIr MIM#301045 Intellectual developmental disorder, X-linked, syndromic, Hedera type MIM#300423 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 3 100;0;0 1.63 True ENSG00000182220 ENSG00000182220 HGNC:18305 ATP6V0A1 gene ATP6V0A1 Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Developmental and epileptic encephalopathy 104 MIM#619970;Neurodevelopmental disorder with epilepsy and brain atrophy MIM#619971 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 30842224;33057194;34909687 False 3 50;50;0 1.63 True ENSG00000033627 ENSG00000033627 HGNC:865 ATP6V0A2 gene ATP6V0A2 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Cutis laxa, autosomal recessive, type IIA, MIM# 219200;Wrinkly skin syndrome, MIM#278250 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 3 100;0;0 1.63 True ENSG00000185344 ENSG00000185344 HGNC:18481 ATP6V0C gene ATP6V0C Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Epilepsy, early-onset, with or without developmental delay, MIM#620465;Epilepsy;Intellectual Disability;microcephaly Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 33190975;33090716 False 3 50;50;0 1.63 True ENSG00000185883 ENSG00000185883 HGNC:855 ATP6V1A gene ATP6V1A Expert list;Expert Review Green Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Epileptic encephalopathy, infantile or early childhood, 3 618012;Cutis laxa, autosomal recessive, type IID 617403 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 29668857;28065471 False 3 100;0;0 1.63 True Other ENSG00000114573 ENSG00000114573 HGNC:851 ATP6V1B2 gene ATP6V1B2 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Zimmermann-Laband syndrome 2, MIM# 616455 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 3 100;0;0 1.63 True ENSG00000147416 ENSG00000147416 HGNC:854 ATP7A gene ATP7A Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Menkes disease MIM#309400 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 3 100;0;0 1.63 True ENSG00000165240 ENSG00000165240 HGNC:869 ATP8A2 gene ATP8A2 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4, MIM#615268 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 22892528;31612321 False 3 0;0;0 1.63 True ENSG00000132932 ENSG00000132932 HGNC:13533 ATP9A gene ATP9A Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with poor growth and behavioural abnormalities, MIM# 620242 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 34379057;34764295 False 3 100;0;0 1.63 True ENSG00000054793 ENSG00000054793 HGNC:13540 ATR gene ATR Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Seckel syndrome 1, MIM# 210600 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 3 100;0;0 1.63 True ENSG00000175054 ENSG00000175054 HGNC:882 ATRX gene ATRX Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) ATR-X-related syndrome MONDO:0016980 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 3 100;0;0 1.63 True ENSG00000085224 ENSG00000085224 HGNC:886 ATXN7L3 gene ATXN7L3 Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental disorder, MONDO_0100500, ATXN7L3-related Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 PMID: 38753057 False 3 100;0;0 1.63 True ENSG00000087152 ENSG00000087152 HGNC:25416 AUH gene AUH Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal 3-methylglutaconic aciduria, type I, MIM# 250950 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 3 100;0;0 1.63 True ENSG00000148090 ENSG00000148090 HGNC:890 AUTS2 gene AUTS2 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Intellectual developmental disorder, autosomal dominant 26, MIM# 615834 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 23332918;25205402;31474318 False 3 100;0;0 1.63 True ENSG00000158321 ENSG00000158321 HGNC:14262 AXIN1 gene AXIN1 Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Craniometadiaphyseal osteosclerosis with hip dysplasia, MIM# 620558 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 PMID: 37582359 False 3 100;0;0 1.63 True ENSG00000103126 ENSG00000103126 HGNC:903 B3GALNT2 gene B3GALNT2 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 11, MIM# 615181;MONDO:0014071 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 23453667;33290285;29791932;29273094;28688748;28303321 False 3 100;0;0 1.63 True ENSG00000162885 ENSG00000162885 HGNC:28596 B3GLCT gene B3GLCT Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Peters Plus Syndrome (MIM 261540);Peters anomaly;Growth retardation;Brachydactyly;ID Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 20301637;16909395;17032646;18199743;25544610 False 3 100;0;0 1.63 True ENSG00000187676 ENSG00000187676 HGNC:20207 B4GALNT1 gene B4GALNT1 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia 26, autosomal recessive (MIM #609195) Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 3 100;0;0 1.63 True ENSG00000135454 ENSG00000135454 HGNC:4117 B4GALT1 gene B4GALT1 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type Iid, MIM#607091 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 11901181;30653653;21920538 False 3 100;0;0 1.63 True ENSG00000086062 ENSG00000086062 HGNC:924 B4GALT7 gene B4GALT7 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Ehlers-Danlos syndrome, spondylodysplastic type, 1, MIM# 130070 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 23956117;24755949;31278392;31614862;31862401 False 3 0;100;0 1.63 True ENSG00000027847 ENSG00000027847 HGNC:930 B9D2 gene B9D2 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 34, MIM#614175;Meckel syndrome 10, MIM#614175 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 26092869;21763481 False 3 100;0;0 1.63 True ENSG00000123810 ENSG00000123810 HGNC:28636 BAP1 gene BAP1 Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Kury-Isidor syndrome , MIM#619762" Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 PMID: 35051358 False 3 100;0;0 1.63 True ENSG00000163930 ENSG00000163930 HGNC:950 BBS1 gene BBS1 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Bardet-Biedl syndrome 1 MONDO:0008854 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 12118255;12677556;12567324 False 3 100;0;0 1.63 True ENSG00000174483 ENSG00000174483 HGNC:966 BBS10 gene BBS10 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Bardet-Biedl syndrome 10 MONDO:0014438 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 16582908;20805367;27245532 False 3 100;0;0 1.63 True ENSG00000179941 ENSG00000179941 HGNC:26291 BBS12 gene BBS12 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Bardet-Biedl syndrome 12 MONDO:0014440 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 17160889;20827784 False 3 100;0;0 1.63 True ENSG00000181004 ENSG00000181004 HGNC:26648 BBS2 gene BBS2 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Bardet-Biedl syndrome 2 MONDO:0014432 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 11285252;11567139 False 3 100;0;0 1.63 True ENSG00000125124 ENSG00000125124 HGNC:967 BBS4 gene BBS4 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Bardet-Biedl syndrome 4, MIM#615982;MONDO:0014433 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 12016587;11381270 False 3 100;0;0 1.63 True ENSG00000140463 ENSG00000140463 HGNC:969 BBS5 gene BBS5 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Bardet-Biedl syndrome 5, MIM#615983;MONDO:0014434 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 19252258;15137946;10053027;15637713 False 3 100;0;0 1.63 True ENSG00000163093 ENSG00000163093 HGNC:970 BBS7 gene BBS7 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Bardet-Biedl syndrome 7, MIM# 615984;MONDO:0014435 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 12567324;21937992;19797195 False 3 100;0;0 1.63 True ENSG00000138686 ENSG00000138686 HGNC:18758 BBS9 gene BBS9 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Bardet-Biedl syndrome 9, MIM#615986;MONDO:0014437 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 16380913;22353939;32686083;32037757 False 3 100;0;0 1.63 True ENSG00000122507 ENSG00000122507 HGNC:30000 BCAP31 gene BCAP31 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Deafness, dystonia, and cerebral hypomyelination, MIM# 300475 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 24011989;31330203;33603160 False 3 100;0;0 1.63 True ENSG00000185825 ENSG00000185825 HGNC:16695 BCAS3 gene BCAS3 Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Hengel-Maroofian-Schols syndrome, MIM# 619641 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 34022130 False 3 100;0;0 1.63 True ENSG00000141376 ENSG00000141376 HGNC:14347 BCKDHA gene BCKDHA Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal maple syrup urine disease type 1A MONDO:0023691 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 7883996;7672509;34288399 False 3 100;0;0 1.63 True ENSG00000248098 ENSG00000248098 HGNC:986 BCKDHB gene BCKDHB Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal maple syrup urine disease type 1B MONDO:0023692 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 7672509;11509994;14742428 False 3 100;0;0 1.63 True ENSG00000083123 ENSG00000083123 HGNC:987 BCKDK gene BCKDK Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Branched-chain ketoacid dehydrogenase kinase deficiency MIM#614923 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 16875466;22956686 False 3 100;0;0 1.63 True ENSG00000103507 ENSG00000103507 HGNC:16902 BCL11A gene BCL11A Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Dias-Logan syndrome, MIM# 617101 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 27453576;32903878 False 3 100;0;0 1.63 True ENSG00000119866 ENSG00000119866 HGNC:13221 BCL11B gene BCL11B Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Intellectual developmental disorder with dysmorphic facies, speech delay, and T-cell abnormalities, MIM# 618092" Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 29985992 False 3 100;0;0 1.63 True ENSG00000127152 ENSG00000127152 HGNC:13222 BCOR gene BCOR Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Microphthalmia, syndromic 2, MIM# 300166;Oculofaciocardiodental syndrome;Lenz microphthalmia Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 29974297 False 3 100;0;0 1.63 True ENSG00000183337 ENSG00000183337 HGNC:20893 BCS1L gene BCS1L Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Bjornstad syndrome MONDO:0009872 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 9777342;17314340;11528392;30582773;30582773;25914718 False 3 100;0;0 1.63 True ENSG00000074582 ENSG00000074582 HGNC:1020 BHLHE22 gene BHLHE22 Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Neurodevelopmental disorder, MONDO:0700092, BHLHE22-related Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 39502664 False 3 100;0;0 1.63 True ENSG00000180828 ENSG00000180828 HGNC:11963 BICRA gene BICRA Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Coffin-Siris syndrome-12, MIM#619325;Developmental delay, intellectual disability, autism spectrum disorder,behavioral abnormalities, dysmorphic features Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 33232675 False 3 100;0;0 1.63 True ENSG00000063169 ENSG00000063169 HGNC:4332 BLOC1S1 gene BLOC1S1 Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder, MONDO:0700092, BLOC1S1-related Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 33875846 False 3 100;0;0 1.63 True ENSG00000135441 ENSG00000135441 HGNC:4200 BMP4 gene BMP4 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Microphthalmia, syndromic 6, MIM# 607932 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 31053785 False 3 50;50;0 1.63 True ENSG00000125378 ENSG00000125378 HGNC:1071 BOLA3 gene BOLA3 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia (MMDS2, OMIM #614299) Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 24334290;29654549;21944046;22562699;26741492;24334290 False 3 100;0;0 1.63 True ENSG00000163170 ENSG00000163170 HGNC:24415 BORCS8 gene BORCS8 Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Neurodegeneration, infantile-onset, with optic atrophy and brain abnormalities, MIM# 620987 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 38128568 False 3 100;0;0 1.63 True ENSG00000254901 ENSG00000254901 HGNC:37247 BPTF gene BPTF Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies AD, MIM#617755 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 28942966;33522091 False 3 100;0;0 1.63 True ENSG00000171634 ENSG00000171634 HGNC:3581 BRAF gene BRAF Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cardiofaciocutaneous syndrome (MIM# 115150);Noonan syndrome (MIM# 613706);LEOPARD syndrome (MIM# 613707) Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 10610177;16474404;19206169 False 3 100;0;0 1.63 True Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000157764 ENSG00000157764 HGNC:1097 BRAT1 gene BRAT1 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with cerebellar atrophy and with or without seizures, MIM#618056 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 26483087;26494257;27282546 False 3 100;0;0 1.63 True ENSG00000106009 ENSG00000106009 HGNC:21701 BRD4 gene BRD4 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cornelia de Lange syndrome Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 29379197;30302754;11997514;34035299 False 3 50;0;50 1.63 True ENSG00000141867 ENSG00000141867 HGNC:13575 BRF1 gene BRF1 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Cerebellofaciodental syndrome, MIM# 616202 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 25561519;25561519;27748960 False 3 100;0;0 1.63 True ENSG00000185024 ENSG00000185024 HGNC:11551 BRPF1 gene BRPF1 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Intellectual developmental disorder with dysmorphic facies and ptosis, MIM# 617333;MONDO:0015022 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 27939640;27939639;32652122 False 3 100;0;0 1.63 True ENSG00000156983 ENSG00000156983 HGNC:14255 BRSK2 gene BRSK2 Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Intellectual disability;autism Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 30879638 False 3 100;0;0 1.63 True ENSG00000174672 ENSG00000174672 HGNC:11405 BRWD3 gene BRWD3 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Intellectual developmental disorder, X-linked 93, MIM # 300659 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 17668385;30628072;24462886 False 3 100;0;0 1.63 True ENSG00000165288 ENSG00000165288 HGNC:17342 BSCL2 gene BSCL2 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted congenital generalized lipodystrophy type 2 MONDO:0010020 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 12362029;26072926;28916377 False 3 100;0;0 1.63 True ENSG00000168000 ENSG00000168000 HGNC:15832 BSND gene BSND Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Bartter syndrome, type 4a, MIM#602522 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 3 0;100;0 1.63 True ENSG00000162399 ENSG00000162399 HGNC:16512 BTD gene BTD Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal biotinidase deficiency MONDO:0009665 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 7550325;9375914;37751899;32741581 False 3 100;0;0 1.63 True ENSG00000169814 ENSG00000169814 HGNC:1122 BUB1B gene BUB1B Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mosaic variegated aneuploidy syndrome 1, MIM# 257300 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 21190457;15475955;15098245 False 3 50;50;0 1.63 True ENSG00000156970 ENSG00000156970 HGNC:1149 C12orf4 gene C12orf4 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Intellectual developmental disorder, autosomal recessive 66 MIM#618221 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 34967075;31334606;27311568;25558065;28097321 False 3 100;0;0 1.63 True ENSG00000047621 ENSG00000047621 HGNC:1184 C12orf57 gene C12orf57 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Temtamy syndrome MIM#218340 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 29383837;31853307 False 3 100;0;0 1.63 True ENSG00000111678 ENSG00000111678 HGNC:29521 C12orf65 gene C12orf65 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal hereditary spastic paraplegia 55 MONDO:0014020 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 24284555;20598281;23188110;24080142;3479531 False 3 100;0;0 1.63 True ENSG00000130921 ENSG00000130921 HGNC:26784 C12orf66 gene C12orf66 Expert Review Green;Other Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal complex neurodevelopmental disorder MONDO:0100038 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 3 50;50;0 1.63 True ENSG00000174206 ENSG00000174206 HGNC:26517 C16orf62 gene C16orf62 Expert list;Expert Review Green Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Ritscher-Schinzel syndrome-3 (RTSC3), MIM#619135 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 25434475;31712251 False 3 50;50;0 1.63 True ENSG00000103544 ENSG00000103544 HGNC:24641 C2CD3 gene C2CD3 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Orofaciodigital syndrome XIV, MIM# 615948 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 30097616;27094867;26477546;24997988 False 3 100;0;0 1.63 True ENSG00000168014 ENSG00000168014 HGNC:24564 C2orf69 gene C2orf69 Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency-53 (COXPD53), MIM#619423 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 34038740;33945503 False 3 100;0;0 1.63 True ENSG00000178074 ENSG00000178074 HGNC:26799 C5orf42 gene C5orf42 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 17, MIM# 614615;MONDO:0013824;Orofaciodigital syndrome VI, MIM# 277170 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 22425360;24178751 False 3 100;0;0 1.63 True ENSG00000197603 ENSG00000197603 HGNC:25801 CA2 gene CA2 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Osteopetrosis, autosomal recessive 3, with renal tubular acidosis, MIM#259730 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 3 100;0;0 1.63 True ENSG00000104267 ENSG00000104267 HGNC:1373 CA8 gene CA8 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Cerebellar ataxia and mental retardation with or without quadrupedal locomotion 3, MIM#613227 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 21937992;19461874 False 3 100;0;0 1.63 True ENSG00000178538 ENSG00000178538 HGNC:1382 CACHD1 gene CACHD1 Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal syndromic complex neurodevelopmental disorder MONDO:0800439 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 PMID: 38158856 False 3 100;0;0 1.63 True ENSG00000158966 ENSG00000158966 HGNC:29314 CACNA1A gene CACNA1A Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted developmental and epileptic encephalopathy, 42 MONDO:0014917 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 27476654;33985586 False 3 100;0;0 1.63 True ENSG00000141837 ENSG00000141837 HGNC:1388 CACNA1B gene CACNA1B Expert list;Expert Review Green Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements, MIM# 618497 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 30982612 False 3 100;0;0 1.63 True ENSG00000148408 ENSG00000148408 HGNC:1389 CACNA1C gene CACNA1C Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures, MIM# 620029 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 34163037 False 3 100;0;0 1.63 True ENSG00000151067 ENSG00000151067 HGNC:1390 CACNA1D gene CACNA1D Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Primary aldosteronism, seizures, and neurologic abnormalities, MIM# 615474;intellectual disability;autism;epilepsy Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 31921405;28472301;25620733 False 3 100;0;0 1.63 True ENSG00000157388 ENSG00000157388 HGNC:1391 CACNA1E gene CACNA1E Expert list;Expert Review Green Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Epileptic encephalopathy, early infantile, 69, MIM#618285 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 30343943 False 3 100;0;0 1.63 True ENSG00000198216 ENSG00000198216 HGNC:1392 CACNA1G gene CACNA1G Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits, MIM#618087 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 29878067 False 3 100;0;0 1.63 True ENSG00000006283 ENSG00000006283 HGNC:1394 CACNA1I gene CACNA1I Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental disorder with variable intellectual disability and speech impairment, with or without seizures (NEDISS), MIM#620114 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 33704440 False 3 100;0;0 1.63 True Other ENSG00000100346 ENSG00000100346 HGNC:1396 CACNA2D1 gene CACNA2D1 Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Developmental and epileptic encephalopathy 110, MIM# 620149 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 35293990 False 3 100;0;0 1.63 True ENSG00000153956 ENSG00000153956 HGNC:1399 CACNA2D2 gene CACNA2D2 Expert list;Expert Review Green Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Cerebellar atrophy with seizures and variable developmental delay, MIM#618501 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 23339110;24358150;30410802;29997391;31402629;11487633;11756448;4177347;14660671;15331424 False 3 100;0;0 1.63 True ENSG00000007402 ENSG00000007402 HGNC:1400 CAD gene CAD Expert list;Expert Review Green Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Epileptic encephalopathy, early infantile, 50, MIM# MIM 616457 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 25678555;28007989;30914295 False 3 100;0;0 1.63 True ENSG00000084774 ENSG00000084774 HGNC:1424 CAMK2A gene CAMK2A Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Mental retardation, autosomal recessive 63 MIM#618095;Mental retardation, autosomal dominant 53 MIM#617798 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 32600977;29784083;29560374 False 3 100;0;0 1.63 True ENSG00000070808 ENSG00000070808 HGNC:1460 CAMK2B gene CAMK2B Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Mental retardation, autosomal dominant 54, MIM# 617799 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 29100089;29560374;32875707 False 3 100;0;0 1.63 True ENSG00000058404 ENSG00000058404 HGNC:1461 CAMK2D gene CAMK2D Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Neurodevelopmental disorder (MONDO#0700092), CAMK2D-related Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 PMID: 38272033 False 3 100;0;0 1.63 True ENSG00000145349 ENSG00000145349 HGNC:1462 CAMK4 gene CAMK4 Expert Review Green;Literature;Other Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Global developmental delay;Intellectual disability;Autism;Behavioral abnormality;Abnormality of movement;Dystonia;Ataxia;Chorea;Myoclonus Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 30262571;33098801;33211350 False 3 100;0;0 1.63 True ENSG00000152495 ENSG00000152495 HGNC:1464 CAMSAP1 gene CAMSAP1 Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Cortical dysplasia, complex, with other brain malformations 12, MIM# 620316 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 36283405 False 3 100;0;0 1.63 True ENSG00000130559 ENSG00000130559 HGNC:19946 CAMTA1 gene CAMTA1 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cerebellar ataxia, nonprogressive, with mental retardation (614756 AD) Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 32157189;22693284 False 3 100;0;0 1.63 True ENSG00000171735 ENSG00000171735 HGNC:18806 CAPN15 gene CAPN15 Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Oculogastrointestinal neurodevelopmental syndrome, MIM# 619318 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 33410501;32885237 False 3 100;0;0 1.63 True ENSG00000103326 ENSG00000103326 HGNC:11182 CAPRIN1 gene CAPRIN1 Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Neurodevelopmental disorder with language impairment, autism, and attention deficit-hyperactivity disorder, MIM# 620782;Neurodegeneration, childhood-onset, with cerebellar ataxia and cognitive decline, MIM# 620636 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 35979925;35977029;28135719;31398340;36136249 False 3 67;33;0 1.63 True ENSG00000135387 ENSG00000135387 HGNC:6743 CAPZA2 gene CAPZA2 Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental disorder, MONDO:0700092, CAPZA2-related Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 32338762;32338762;38374166;35856264 False 3 50;50;0 1.63 True ENSG00000198898 ENSG00000198898 HGNC:1490 CARS gene CARS Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Intellectual disability;microcephaly;brittle hair and nails Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 PMID: 30824121 False 3 100;0;0 1.63 True ENSG00000110619 ENSG00000110619 HGNC:1493 CARS2 gene CARS2 Expert list;Expert Review Green Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 27, MIM#616672 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 30139652;25787132 False 3 100;0;0 1.63 True ENSG00000134905 ENSG00000134905 HGNC:25695 CASK gene CASK Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females FG syndrome 4 MIM#300422;Intellectual developmental disorder and microcephaly with pontine and cerebellar hypoplasia MIM#300749;Intellectual disability, with or without nystagmus MIM#300422 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 24278995 False 3 100;0;0 1.63 True ENSG00000147044 ENSG00000147044 HGNC:1497 CASP2 gene CASP2 Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Intellectual developmental disorder, autosomal recessive 80, with variant lissencephaly, MIM# 620653 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 37880421 False 3 100;0;0 1.63 True ENSG00000106144 ENSG00000106144 HGNC:1503 CBL gene CBL Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted CBL-related disorder MONDO:0013308 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 20694012;20543203;11315197 False 3 100;0;0 1.63 True Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000110395 ENSG00000110395 HGNC:1541 CBS gene CBS Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Homocystinuria (MIM# 236200) Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 3 100;0;0 1.63 True ENSG00000160200 ENSG00000160200 HGNC:1550 CBX1 gene CBX1 Expert list;Expert Review Green Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental disorder (MONDO#0700092), CBX1-related Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 PMID: 37087635 False 3 100;0;0 1.63 True ENSG00000108468 ENSG00000108468 HGNC:1551 CBY1 gene CBY1 Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal intellectual disability;cerebellar ataxia;molar tooth sign;polydactyly;Joubert syndrome Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 33131181;25103236;25220153 False 3 100;0;0 1.63 True ENSG00000100211 ENSG00000100211 HGNC:1307 CC2D1A gene CC2D1A Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Autosomal recessive mental retardation, (MIM#608443) Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 25066123 False 3 100;0;0 1.63 True ENSG00000132024 ENSG00000132024 HGNC:30237 CC2D2A gene CC2D2A Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal COACH syndrome 2, MIM# 619111;Joubert syndrome 9, MIM#612285;Meckel syndrome 6, MIM#612284 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 3 100;0;0 1.63 True ENSG00000048342 ENSG00000048342 HGNC:29253 CCBE1 gene CCBE1 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Hennekam lymphangiectasia- lymphoedema syndrome MIM# 235510;lymphangiectasia and lymphoedema;facial abnormalities;dysmorphic features;hypoalbuminaemia;intellectual disability;hypoglobulinaemia Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 19935664;19911200;19287381;25925991;27345729;21778431 False 3 100;0;0 1.63 True ENSG00000183287 ENSG00000183287 HGNC:29426 CCDC115 gene CCDC115 Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type IIo MIM# 616828 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 3 100;0;0 1.63 True ENSG00000136710 ENSG00000136710 HGNC:28178 CCDC22 gene CCDC22 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Ritscher-Schinzel syndrome 2, MIM# 300963 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 21826058;24916641;34020006;33059814;31971710 False 3 100;0;0 1.63 True ENSG00000101997 ENSG00000101997 HGNC:28909 CCDC47 gene CCDC47 Expert list;Expert Review Green Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Trichohepatoneurodevelopmental syndrome, 618268 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 30401460 False 3 100;0;0 1.63 True ENSG00000108588 ENSG00000108588 HGNC:24856 CCDC82 gene CCDC82 Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder, MONDO:0700092, CCDC82-related Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 35373332;35118659;27457812 False 3 100;0;0 1.63 True ENSG00000149231 ENSG00000149231 HGNC:26282 CCDC88A gene CCDC88A Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal PEHO syndrome-like, MIM# 617507 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 26917597;30392057 False 3 100;0;0 1.63 True ENSG00000115355 ENSG00000115355 HGNC:25523 CCDC88C gene CCDC88C Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Hydrocephalus, nonsyndromic, autosomal recessive 236600 AR Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 25062847;30398676 False 3 50;50;0 1.63 True ENSG00000015133 ENSG00000015133 HGNC:19967 CCND2 gene CCND2 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3, MIM# 615938;Neurodevelopmental disorder, CCND2-related MONDO: 0700092;Microcephaly, MONDO: 0001149 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 3 0;0;0 1.63 True ENSG00000118971 ENSG00000118971 HGNC:1583 CCT3 gene CCT3 Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted neurodevelopmental disorder MONDO:0700092, CCT3-related Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 39480921 False 3 100;0;0 1.63 True ENSG00000163468 ENSG00000163468 HGNC:1616 CCT6A gene CCT6A Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted neurodevelopmental disorder MONDO:0700092, CCT6A-related Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 39480921 False 3 100;0;0 1.63 False ENSG00000146731 ENSG00000146731 HGNC:1620 CDC42 gene CDC42 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Takenouchi-Kosaki syndrome, MIM#616737 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 29925821;26708094;26386261;29394990 False 3 100;0;0 1.63 True ENSG00000070831 ENSG00000070831 HGNC:1736 CDC42BPB gene CDC42BPB Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Chilton-Okur-Chung neurodevelopmental syndrome, MIM# 619841 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 32031333 False 3 100;0;0 1.63 True ENSG00000198752 ENSG00000198752 HGNC:1738 CDH11 gene CDH11 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Elsahy-Waters syndrome, MIM# 211380;Teebi hypertelorism syndrome Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 33811546;27431290;28988429;29271567;33811546 False 3 100;0;0 1.63 True ENSG00000140937 ENSG00000140937 HGNC:1750 CDH2 gene CDH2 Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Intellectual disability;corpus callosum abnormalities;congenital abnormalities;Agenesis of corpus callosum, cardiac, ocular, and genital syndrome, MIM# 618929" Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 31585109 False 3 100;0;0 1.63 True ENSG00000170558 ENSG00000170558 HGNC:1759 CDK10 gene CDK10 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Al Kaissi syndrome MIM#617694 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 28886341 False 3 100;0;0 1.63 True ENSG00000185324 ENSG00000185324 HGNC:1770 CDK13 gene CDK13 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder, 617360 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 29021403;29393965;30904094 False 3 100;0;0 1.63 True ENSG00000065883 ENSG00000065883 HGNC:1733 CDK16 gene CDK16 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Neurodevelopmental disorder (MONDO#0700092) CDK16-related Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 25644381;36323681;31981491 False 3 50;50;0 1.63 True ENSG00000102225 ENSG00000102225 HGNC:8749 CDK19 gene CDK19 Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Intellectual disability;epileptic encephalopathy;Epileptic encephalopathy, early infantile, 87, MIM# 618916" Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 32330417 False 3 100;0;0 1.63 True ENSG00000155111 ENSG00000155111 HGNC:19338 CDK5RAP2 gene CDK5RAP2 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Microcephaly 3, primary, autosomal recessive, MIM# 604804;MONDO:0011488 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 15793586;22887808;23995685;23726037;27761245;20460369;32677750;32015000 False 3 100;0;0 1.63 True ENSG00000136861 ENSG00000136861 HGNC:18672 CDK8 gene CDK8 Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Intellectual disability;dysmorphism;congenital abnormalities;seizures Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 30905399 False 3 100;0;0 1.63 True ENSG00000132964 ENSG00000132964 HGNC:1779 CDKL5 gene CDKL5 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Developmental and epileptic encephalopathy 2, MIM# 300672 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 19793311 False 3 100;0;0 1.63 True ENSG00000008086 ENSG00000008086 HGNC:11411 CDON gene CDON Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted holoprosencephaly 11 MONDO:0013642 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 21802063;26728615;31502381;32729136;26529631 False 3 100;0;0 1.63 True ENSG00000064309 ENSG00000064309 HGNC:17104 CELF2 gene CELF2 Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Developmental and epileptic encephalopathy 97, MIM#619561 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 33131106 False 3 100;0;0 1.63 True ENSG00000048740 ENSG00000048740 HGNC:2550 CELSR3 gene CELSR3 Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder (MONDO#0700092), CELSR3-related Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 PMID: 38429302 False 3 100;0;0 1.63 True ENSG00000008300 ENSG00000008300 HGNC:3230 CENPF gene CENPF Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Stromme syndrome (MIM#243605) Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 35488810;31953238;26820108 False 3 100;0;0 1.63 True ENSG00000117724 ENSG00000117724 HGNC:1857 CENPJ gene CENPJ Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Microcephaly 6, primary, autosomal recessive, MIM# 608393, MONDO:0012029;Seckel syndrome 4, MIM# 613676, MONDO:0013358 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 20522431;23166506;15793586;20978018;22775483;32677750;32549991;34068194 False 3 100;0;0 1.63 True ENSG00000151849 ENSG00000151849 HGNC:17272 CEP104 gene CEP104 Expert list;Expert Review Green Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 25, MIM# 616781;MONDO:0014770;Neurodevelopmental disorder;MONDO:0014770, CEP104-related Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 26477546;34196201;35359234 False 3 100;0;0 1.63 True ENSG00000116198 ENSG00000116198 HGNC:24866 CEP120 gene CEP120 Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 31 (MIM 617761);Short-rib thoracic dysplasia 13 with or without polydactyly (MIM 616300) Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 27208211 False 3 100;0;0 1.63 True ENSG00000168944 ENSG00000168944 HGNC:26690 CEP135 gene CEP135 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Microcephalic primordial dwarfism;Microcephaly 8, primary, autosomal recessive, 614673 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 30214071;22521416 False 3 100;0;0 1.63 True ENSG00000174799 ENSG00000174799 HGNC:29086 CEP152 gene CEP152 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Microcephaly 9, primary, autosomal recessive, MIM# 614852;MONDO:0013923;Seckel syndrome 5, MIM# 613823;MONDO:0013443 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 20598275;22775483;21131973;23199753 False 3 100;0;0 1.63 True ENSG00000103995 ENSG00000103995 HGNC:29298 CEP164 gene CEP164 Expert Review;Expert Review Green Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Bardet-Biedl syndrome;Nephronophthisis 15, MIM# 614845;Oro-facio-digital syndrome Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 34132027;34013113;32055034;27708425;22863007 False 3 100;0;0 1.63 True ENSG00000110274 ENSG00000110274 HGNC:29182 CEP290 gene CEP290 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 5, MIM# 610188;Meckel syndrome 4, MIM# 611134;Bardet-Biedl syndrome 14, MIM# 615991 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 16682973;16682970;17705300;33370260;32600475 False 3 100;0;0 1.63 True ENSG00000198707 ENSG00000198707 HGNC:29021 CEP295 gene CEP295 Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Seckel syndrome 11, OMIM # 620767 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 PMID: 38154379 False 3 100;0;0 1.63 True ENSG00000166004 ENSG00000166004 HGNC:29366 CEP41 gene CEP41 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 15, MIM# 614464 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 22246503 False 3 100;0;0 1.63 True ENSG00000106477 ENSG00000106477 HGNC:12370 CEP55 gene CEP55 Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly, MIM# 236500;Microcephaly;Intellectual disability" Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 32100459 False 3 100;0;0 1.63 True ENSG00000138180 ENSG00000138180 HGNC:1161 CEP57 gene CEP57 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mosaic variegated aneuploidy syndrome 2, #MIM 614114 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 24259107;21552266;32861809;30147898 False 3 100;0;0 1.63 True ENSG00000166037 ENSG00000166037 HGNC:30794 CEP76 gene CEP76 Expert Review Green;Other Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal complex neurodevelopmental disorder MONDO:0100038;Joubert syndrome;Bardet-Biedl syndrome;retinitis pigmentosa Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 3 100;0;0 1.63 True ENSG00000101624 ENSG00000101624 HGNC:25727 CEP83 gene CEP83 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Nephronophthisis 18, MIM# 615862;MONDO:0014374;Retinal dystrophy;ID Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 24882706;33938610 False 3 100;0;0 1.63 True ENSG00000173588 ENSG00000173588 HGNC:17966 CEP85L gene CEP85L Expert Review;Expert Review Green Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Lissencephaly, posterior predominant Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 32097630 False 3 100;0;0 1.63 True ENSG00000111860 ENSG00000111860 HGNC:21638 CHAMP1 gene CHAMP1 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Mental retardation, autosomal dominant 40 (MIM#616579) Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 27148580;26340335 False 3 100;0;0 1.63 True ENSG00000198824 ENSG00000198824 HGNC:20311 CHD1 gene CHD1 Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Pilarowski-Bjornsson syndrome, MIM#617682 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 28866611 False 3 100;0;0 1.63 True ENSG00000153922 ENSG00000153922 HGNC:1915 CHD2 gene CHD2 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Developmental and epileptic encephalopathy 94, MIM# 615369 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 26677509 False 3 100;0;0 1.63 True ENSG00000173575 ENSG00000173575 HGNC:1917 CHD3 gene CHD3 Expert list;Expert Review Green Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Snijders Blok-Campeau syndrome, MIM#618205 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 30397230 False 3 100;0;0 1.63 True ENSG00000170004 ENSG00000170004 HGNC:1918 CHD4 gene CHD4 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Sifrim-Hitz-Weiss syndrome, MIM 617159 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 31388190 False 3 100;0;0 1.63 True ENSG00000111642 ENSG00000111642 HGNC:1919 CHD5 gene CHD5 Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Intellectual disability;Epilepsy Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 33944996 False 3 100;0;0 1.63 True ENSG00000116254 ENSG00000116254 HGNC:16816 CHD7 gene CHD7 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted CHARGE syndrome, MIM# 214800 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 3 100;0;0 1.63 True ENSG00000171316 ENSG00000171316 HGNC:20626 CHD8 gene CHD8 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted {Autism, susceptibility to, 18} 615032;Neurodevelopmental disorder, MONDO:0700092, CHD8-associated Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 31980904 False 3 100;0;0 1.63 True ENSG00000100888 ENSG00000100888 HGNC:20153 CHKA gene CHKA Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with microcephaly, movement abnormalities, and seizures, MIM#620023 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 35202461 False 3 100;0;0 1.63 True ENSG00000110721 ENSG00000110721 HGNC:1937 CHKB gene CHKB Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy, congenital, megaconial type, MIM# 602541 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 21665002;23692895;24997086 False 3 100;0;0 1.63 True ENSG00000100288 ENSG00000100288 HGNC:1938 CHMP1A gene CHMP1A Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Pontocerebellar hypoplasia, type 8, MIM# 614961 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 23023333 False 3 100;0;0 1.63 True ENSG00000131165 ENSG00000131165 HGNC:8740 CIC gene CIC Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Intellectual developmental disorder, autosomal dominant 45 MIM#617600 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 28288114;21076407 False 3 100;0;0 1.63 True ENSG00000079432 ENSG00000079432 HGNC:14214 CIT gene CIT Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Microcephaly 17, primary, autosomal recessive (MIM#617090) Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 27453578;27503289;27453579 False 3 100;0;0 1.63 True ENSG00000122966 ENSG00000122966 HGNC:1985 CKAP2L gene CKAP2L Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Filippi syndrome, MIM# 272440 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 25439729;33913579;29473684 False 3 100;0;0 1.63 True ENSG00000169607 ENSG00000169607 HGNC:26877 CLCN3 gene CLCN3 Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Neurodevelopmental disorder with hypotonia and brain abnormalities, MIM# 619512;Neurodevelopmental disorder with seizures and brain abnormalities, MIM# 619517 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 34186028 False 3 100;0;0 1.63 True Other ENSG00000109572 ENSG00000109572 HGNC:2021 CLCN4 gene CLCN4 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Raynaud-Claes syndrome, MIM#300114;intellectual disability;epilepsy;autistic features;mood disorders;cerebral white matter changes;progressive appendicular spasticity Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 27550844 False 3 100;0;0 1.63 True ENSG00000073464 ENSG00000073464 HGNC:2022 CLCN6 gene CLCN6 Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodegeneration, childhood-onset, hypotonia, respiratory insufficiency and brain imaging abnormalities, MIM# 619173;Developmental delay;neurodegeneration Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 33217309 False 3 100;0;0 1.63 True ENSG00000011021 ENSG00000011021 HGNC:2024 CLCNKB gene CLCNKB Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders Other Bartter syndrome, type 3, MIM#607364;Bartter syndrome, type 4b, digenic, MIM#613090 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 18310267;29254190 False 3 100;0;0 1.63 True ENSG00000184908 ENSG00000184908 HGNC:2027 CLDN5 gene CLDN5 Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Syndromic disorder, MONDO:0002254, CLDN5-related Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 PMID: 36477332 False 3 100;0;0 1.63 True Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000184113 ENSG00000184113 HGNC:2047 CLN3 gene CLN3 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Ceroid lipofuscinosis, neuronal, 3 MIM#204200 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 3 100;0;0 1.63 True ENSG00000188603 ENSG00000188603 HGNC:2074 CLN5 gene CLN5 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Ceroid lipofuscinosis, neuronal, 5, MIM# 256731;MONDO:0009745 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 20157158 False 3 100;0;0 1.63 True ENSG00000102805 ENSG00000102805 HGNC:2076 CLN6 gene CLN6 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Ceroid lipofuscinosis, neuronal, 6, MIM# 601780 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 3 100;0;0 1.63 True ENSG00000128973 ENSG00000128973 HGNC:2077 CLN8 gene CLN8 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal neuronal ceroid lipofuscinosis MONDO:0016295 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 3 100;0;0 1.63 True ENSG00000182372 ENSG00000182372 HGNC:2079 CLP1 gene CLP1 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Pontocerebellar hypoplasia type 10, MIM# 615803 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 24766809;29307788 False 3 100;0;0 1.63 True ENSG00000172409 ENSG00000172409 HGNC:16999 CLPB gene CLPB Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal 3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropaenia, MIM# 616271;3-methylglutaconic aciduria, type VIIA, autosomal dominant, MIM# 619835 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 25597510;34140661 False 3 100;0;0 1.63 True ENSG00000162129 ENSG00000162129 HGNC:30664 CLTC gene CLTC Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Mental retardation, autosomal dominant 56, MIM# 617854 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 29100083;26822784 False 3 100;0;0 1.63 True ENSG00000141367 ENSG00000141367 HGNC:2092 CNKSR2 gene CNKSR2 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Intellectual developmental disorder, X-linked, syndromic, Houge type, MIM# 301008 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 34266427 False 3 100;0;0 1.63 True ENSG00000149970 ENSG00000149970 HGNC:19701 CNNM2 gene CNNM2 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Hypomagnesemia 6, renal MIM#613882;Hypomagnesemia, seizures, and mental retardation MIM#616418 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 34604137;35170241 False 3 100;0;0 1.63 True ENSG00000148842 ENSG00000148842 HGNC:103 CNOT1 gene CNOT1 Expert list;Expert Review Green Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Vissers-Bodmer syndrome, MIM#619033;Holoprosencephaly 12, with or without pancreatic agenesis 618500" Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 31006510;21679367;31006513;32553196 False 3 100;0;0 1.63 True ENSG00000125107 ENSG00000125107 HGNC:7877 CNOT2 gene CNOT2 Expert list;Expert Review Green Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Intellectual developmental disorder with nasal speech, dysmorphic facies, and variable skeletal anomalies 618608" Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 31512373;31145527;28135719 False 3 100;0;0 1.63 True ENSG00000111596 ENSG00000111596 HGNC:7878 CNOT3 gene CNOT3 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Intellectual developmental disorder with speech delay, autism, and dysmorphic facies 618672 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 31201375 False 3 100;0;0 1.63 True ENSG00000088038 ENSG00000088038 HGNC:7879 CNOT9 gene CNOT9 Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted neurodevelopmental disorder, MONDO:0700092 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 PMID: 37092538 False 3 100;0;0 1.63 True ENSG00000144580 ENSG00000144580 HGNC:10445 CNPY3 gene CNPY3 Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Epileptic encephalopathy, early infantile, 60 (MIM 617929) Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 29394991;30237576 False 3 100;0;0 1.63 True ENSG00000137161 ENSG00000137161 HGNC:11968 CNTNAP1 gene CNTNAP1 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Hypomyelinating neuropathy, congenital, 3, MIM#618186;Lethal congenital contracture syndrome 7, MIM# 616286 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 28374019;29511323;27668699 False 3 100;0;0 1.63 True ENSG00000108797 ENSG00000108797 HGNC:8011 CNTNAP2 gene CNTNAP2 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Cortical dysplasia-focal epilepsy syndrome, MIM# 610042 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 16571880;19896112;27439707 False 3 100;0;0 1.63 True ENSG00000174469 ENSG00000174469 HGNC:13830 COASY gene COASY Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Neurodegeneration with brain iron accumulation 6 615643;Pontocerebellar hypoplasia, type 12 618266 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 24360804;30089828 False 3 100;0;0 1.63 True ENSG00000068120 ENSG00000068120 HGNC:29932 COG1 gene COG1 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type IIg, MIM# 611209 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 16537452;19008299;17904886;11980916 False 3 100;0;0 1.63 True ENSG00000166685 ENSG00000166685 HGNC:6545 COG4 gene COG4 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Saul-Wilson syndrome, OMIM #618150;Congenital disorder of glycosylation, type IIj, OMIM #613489 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 31949312;30290151;19494034;21185756 False 3 100;0;0 1.63 True ENSG00000103051 ENSG00000103051 HGNC:18620 COG5 gene COG5 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type IIi, MIM# 613612 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 23228021;31572517;32174980 False 3 100;0;0 1.63 True ENSG00000164597 ENSG00000164597 HGNC:14857 COG6 gene COG6 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type Iil, MIM#614576 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 3 100;0;0 1.63 True ENSG00000133103 ENSG00000133103 HGNC:18621 COG7 gene COG7 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type IIe , MIM#608779 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 15107842;17356545;28883096 False 3 100;0;0 1.63 True ENSG00000168434 ENSG00000168434 HGNC:18622 COG8 gene COG8 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type IIh, MIM# 611182 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 17220172;28619360;30690882;17331980 False 3 100;0;0 1.63 True ENSG00000213380 ENSG00000213380 HGNC:18623 COL4A1 gene COL4A1 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal COL4A1-related disorder MONDO:0800461 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 30413629;33912663;36786861;32042920 False 3 100;0;0 1.63 True ENSG00000187498 ENSG00000187498 HGNC:2202 COL4A2 gene COL4A2 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Brain small vessel disease 2, MIM# 614483;familial porencephaly MONDO:0020496" Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 36324412;39016117 False 3 100;0;0 1.63 True ENSG00000134871 ENSG00000134871 HGNC:2203 COL4A3BP gene COL4A3BP Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Intellectual developmental disorder 34 (MIM#616351) Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 25533962;36976648 False 3 100;0;0 1.63 True Other ENSG00000113163 ENSG00000113163 HGNC:2205 COLEC11 gene COLEC11 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal 3MC syndrome 2, MIM# 265050 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 21258343;26789649;28301481 False 3 100;0;0 1.63 True ENSG00000118004 ENSG00000118004 HGNC:17213 COPB2 gene COPB2 Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Osteoporosis, childhood- or juvenile-onset, with developmental delay, MIM# 619884 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 PMID: 34450031 False 3 50;50;0 1.63 True ENSG00000184432 ENSG00000184432 HGNC:2232 COQ4 gene COQ4 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Coenzyme Q10 deficiency, primary, 7, MIM# 616276;neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome MONDO:0014562 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 34656997 False 3 100;0;0 1.63 True ENSG00000167113 ENSG00000167113 HGNC:19693 COQ8A gene COQ8A Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal coenzyme Q10 deficiency MONDO:0018151 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 31621627;31741144 False 3 100;0;0 1.63 True ENSG00000163050 ENSG00000163050 HGNC:16812 COX10 gene COX10 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex IV deficiency, nuclear type 3, MIM# 619046 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 10767350;12928484;15455402;27290639 False 3 100;0;0 1.63 True ENSG00000006695 ENSG00000006695 HGNC:2260 COX11 gene COX11 Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial disease (MONDO:0044970), COX11-related Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 36030551 False 3 100;0;0 1.63 True ENSG00000166260 ENSG00000166260 HGNC:2261 COX15 gene COX15 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex IV deficiency, nuclear type 6, MIM# 615119 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 33746038;32232962;26959537;21412973;12474143;15235026 False 3 100;0;0 1.63 True ENSG00000014919 ENSG00000014919 HGNC:2263 CPE gene CPE Expert list;Expert Review Green Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Intellectual developmental disorder and hypogonadotropic hypogonadism, MIM# 619326" Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 26120850;32936766;34383079 False 3 100;0;0 1.63 True ENSG00000109472 ENSG00000109472 HGNC:2303 CPS1 gene CPS1 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Carbamoylphosphate synthetase I deficiency MIM#237300 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 8486760;17310273;21120950;31268178 False 3 100;0;0 1.63 True ENSG00000021826 ENSG00000021826 HGNC:2323 CPSF3 gene CPSF3 Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with microcephaly, hypotonia, and seizures (NEDMHS), MIM#619876 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 35121750 False 3 100;0;0 1.63 True ENSG00000119203 ENSG00000119203 HGNC:2326 CRADD gene CRADD Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mental retardation, autosomal recessive 34, with variant lissencephaly, MIM# 614499 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 27773430 False 3 100;0;0 1.63 True ENSG00000169372 ENSG00000169372 HGNC:2340 CRB2 gene CRB2 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Ventriculomegaly with cystic kidney disease, MIM# 219730 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 25557780;33687977;32051522;30212996;33575434;31438467;30593785 False 3 100;0;0 1.63 True ENSG00000148204 ENSG00000148204 HGNC:18688 CREBBP gene CREBBP Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Rubinstein-Taybi syndrome 1, MIM# 180849;Menke-Hennekam syndrome 1, MIM# 618332 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 10699051;17855048;27311832;29460469 False 3 100;0;0 1.63 True ENSG00000005339 ENSG00000005339 HGNC:2348 CRELD1 gene CRELD1 Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Jeffries-Lakhani neurodevelopmental syndrome, MIM# 620771 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 PMID: 37947183 False 3 100;0;0 1.63 True ENSG00000163703 ENSG00000163703 HGNC:14630 CRIPT gene CRIPT Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Short stature with microcephaly and distinctive facies (MIM#615789) : Rothmund-Thomson syndrome MONDO:0010002 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 PMID: 37013901 False 3 100;0;0 1.63 True ENSG00000119878 ENSG00000119878 HGNC:14312 CRLS1 gene CRLS1 Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 57, MIM# 620167 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 35147173 False 3 100;0;0 1.63 True ENSG00000088766 ENSG00000088766 HGNC:16148 CRNKL1 gene CRNKL1 Expert Review Green;Other Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted complex neurodevelopmental disorder MONDO:0100038 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 3 100;0;0 1.63 True ENSG00000101343 ENSG00000101343 HGNC:15762 CSDE1 gene CSDE1 Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental disorder, MONDO:0700092, CSDE1-related Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 31579823 False 3 100;0;0 1.63 True ENSG00000009307 ENSG00000009307 HGNC:29905 CSMD1 gene CSMD1 Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal complex neurodevelopmental disorder MONDO:0100038 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 PMID 38816421 False 3 100;0;0 1.63 True ENSG00000183117 ENSG00000183117 HGNC:14026 CSNK1G1 gene CSNK1G1 Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Neurodevelopmental disorder, MONDO:0700092, CSNK1G-related Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 33009664 False 3 0;100;0 1.63 True ENSG00000169118 ENSG00000169118 HGNC:2454 CSNK2A1 gene CSNK2A1 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Okur-Chung neurodevelopmental syndrome, MIM# 617062 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 27048600;29240241;29383814 False 3 100;0;0 1.63 True ENSG00000101266 ENSG00000101266 HGNC:2457 CSNK2B gene CSNK2B Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Poirier-Bienvenu neurodevelopmental syndrome , MIM#618732 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 28585349;28762608 False 3 100;0;0 1.63 True ENSG00000204435 ENSG00000204435 HGNC:2460 CSPP1 gene CSPP1 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 21, MIM# 615636;MONDO:0014288 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 24360808;24360803;24360807;25997910 False 3 100;0;0 1.63 True ENSG00000104218 ENSG00000104218 HGNC:26193 CTBP1 gene CTBP1 Expert list;Expert Review Green Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome, 617915 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 27094857;28955726;31041561 False 3 0;0;0 1.63 True ENSG00000159692 ENSG00000159692 HGNC:2494 CTCF gene CTCF Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Mental retardation, autosomal dominant 21 (MIM#615502) Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 23746550;31239556 False 3 100;0;0 1.63 True ENSG00000102974 ENSG00000102974 HGNC:13723 CTDP1 gene CTDP1 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal congenital cataracts-facial dysmorphism-neuropathy syndrome MONDO:0011402 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 20301787 False 3 100;0;0 1.63 True ENSG00000060069 ENSG00000060069 HGNC:2498 CTNNA2 gene CTNNA2 Expert list;Expert Review Green Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Cortical dysplasia, complex, with other brain malformations 9, MIM#618174 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 30013181 False 3 100;0;0 1.63 True ENSG00000066032 ENSG00000066032 HGNC:2510 CTNNB1 gene CTNNB1 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental disorder with spastic diplegia and visual defects , MIM#615075 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 23033978;24614104;25326669;27915094 False 3 100;0;0 1.63 True ENSG00000168036 ENSG00000168036 HGNC:2514 CTR9 gene CTR9 Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental disorder (MONDO:0700092), CTR9-related Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 PMID: 35499524;35717577 False 3 100;0;0 1.63 True ENSG00000198730 ENSG00000198730 HGNC:16850 CTSA gene CTSA Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Galactosialidosis MONDO:0009737 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 23915561;36713078 False 3 100;0;0 1.63 True ENSG00000064601 ENSG00000064601 HGNC:9251 CTSD gene CTSD Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal neuronal ceroid lipofuscinosis MONDO:0016295 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 3 100;0;0 1.63 True ENSG00000117984 ENSG00000117984 HGNC:2529 CTU2 gene CTU2 Expert list;Expert Review Green Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome, MIM#618142 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 27480277;26633546 False 3 100;0;0 1.63 True ENSG00000174177 ENSG00000174177 HGNC:28005 CUL3 gene CUL3 Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Neurodevelopmental disorder with or without autism or seizures, MIM# 619239;Global developmental delay;Intellectual disability;Seizures;Abnormality of cardiovascular system morphology;Abnormality of the palate Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 32341456 False 3 100;0;0 1.63 True ENSG00000036257 ENSG00000036257 HGNC:2553 CUL4B gene CUL4B Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Mental retardation, X-linked, syndromic 15 (Cabezas type), MIM# 300354 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 17236139;19377476 False 3 100;0;0 1.63 True ENSG00000158290 ENSG00000158290 HGNC:2555 CUX1 gene CUX1 Expert list;Expert Review Green Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Global developmental delay with or without impaired intellectual development, MIM#618330 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 25059644;20510857;30014507 False 3 100;0;0 1.63 True ENSG00000257923 ENSG00000257923 HGNC:2557 CUX2 gene CUX2 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Epileptic encephalopathy, early infantile, 67, MIM#618141 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 29630738;29795476 False 3 100;0;0 1.63 True ENSG00000111249 ENSG00000111249 HGNC:19347 CWC27 gene CWC27 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Retinitis pigmentosa with or without skeletal anomalies, MIM# 250410 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 28285769;31481716 False 3 100;0;0 1.63 True ENSG00000153015 ENSG00000153015 HGNC:10664 CWF19L1 gene CWF19L1 Expert list;Expert Review Green Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Spinocerebellar ataxia, autosomal recessive 17, MIM#616127;intellectual disability, developmental delay Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 25361784;15981765;26197978;27016154;30167849 False 3 100;0;0 1.63 True ENSG00000095485 ENSG00000095485 HGNC:25613 CXorf56 gene CXorf56 Expert list;Expert Review Green Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females "Mental retardation, X-linked 107, MIM# 301013" Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 29374277 False 3 100;0;0 1.63 True ENSG00000018610 ENSG00000018610 HGNC:26239 CYB5R3 gene CYB5R3 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Methemoglobinemia MONDO:0001117 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 38303731 False 3 100;0;0 1.63 True ENSG00000100243 ENSG00000100243 HGNC:2873 CYFIP2 gene CYFIP2 Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Epileptic encephalopathy, early infantile, 65, MIM#618008;Intellectual disability Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 29534297;30664714 False 3 100;0;0 1.63 True ENSG00000055163 ENSG00000055163 HGNC:13760 CYHR1 gene CYHR1 Expert Review Green;Other Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder and microcephaly, MONDO:0700092, CYHR1-related Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 3 50;50;0 1.63 True ENSG00000187954 ENSG00000187954 HGNC:17806 D2HGDH gene D2HGDH Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal D-2-hydroxyglutaric aciduria MIM#600721 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 15609246;16081310;31349060;20020533;38825343 False 3 100;0;0 1.63 True ENSG00000180902 ENSG00000180902 HGNC:28358 DAG1 gene DAG1 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 9 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 25934851;29337005;24052401;21388311;25503980;30450679;12140559;21388311 False 3 50;50;0 1.63 True ENSG00000173402 ENSG00000173402 HGNC:2666 DAGLA gene DAGLA Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neuroocular syndrome 2, paroxysmal type, MIM# 168885 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 35737950 False 3 100;0;0 1.63 True ENSG00000134780 ENSG00000134780 HGNC:1165 DARS gene DARS Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Hypomyelination with brainstem and spinal cord involvement and leg spasticity, MIM# 615281 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 25527264;23643384 False 3 100;0;0 1.63 True ENSG00000115866 ENSG00000115866 HGNC:2678 DARS2 gene DARS2 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation, MIM# 611105 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 17384640;21815884;20506600 False 3 100;0;0 1.63 True ENSG00000117593 ENSG00000117593 HGNC:25538 DBT gene DBT Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Maple syrup urine disease, type II (MIM#248600) Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 3 100;0;0 1.63 True ENSG00000137992 ENSG00000137992 HGNC:2698 DCAF17 gene DCAF17 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Woodhouse-Sakati syndrome, MIM# 241080 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 19026396;20507343;35002959;34877714;34732557;34590781 False 3 100;0;0 1.63 True ENSG00000115827 ENSG00000115827 HGNC:25784 DCHS1 gene DCHS1 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Van Maldergem syndrome 1, MIM# 601390 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 27262615;22473091;24056717;29046692 False 3 100;0;0 1.63 True ENSG00000166341 ENSG00000166341 HGNC:13681 DCPS gene DCPS Expert list;Expert Review Green Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Al-Raqad syndrome, MIM#616459 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 25701870;30289615;25712129 False 3 100;0;0 1.63 True ENSG00000110063 ENSG00000110063 HGNC:29812 DCX gene DCX Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Lissencephaly, X-linked, MIM# 300067;Subcortical laminal heterotopia, X-linked 300067 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 26743950;11468322;20726879;20301364;12552055;9489699 False 3 100;0;0 1.63 True ENSG00000077279 ENSG00000077279 HGNC:2714 DDB1 gene DDB1 Expert Review Green;Research Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted White-Kernohan syndrome, MIM# 619426;Syndromic intellectual disability Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 33743206 False 3 100;0;0 1.63 True ENSG00000167986 ENSG00000167986 HGNC:2717 DDC gene DDC Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 37824694 False 3 100;0;0 1.63 True ENSG00000132437 ENSG00000132437 HGNC:2719 DDHD2 gene DDHD2 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal hereditary spastic paraplegia 54 MONDO:0014018 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 23486545;23176823;36090575;26113134;25417924 False 3 100;0;0 1.63 True ENSG00000085788 ENSG00000085788 HGNC:29106 DDX11 gene DDX11 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Warsaw breakage syndrome, MIM# 613398;MONDO:0013252 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 20137776;23033317;30216658 False 3 100;0;0 1.63 True ENSG00000013573 ENSG00000013573 HGNC:2736 DDX17 gene DDX17 Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental disorder (MONDO#0700092), DDX17-related Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 https://www.medrxiv.org/search/DDX17 False 3 100;0;0 1.63 True ENSG00000100201 ENSG00000100201 HGNC:2740 DDX23 gene DDX23 Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental disorder, MONDO:0700092, DDX23-related Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 33057194;34050707 False 3 50;50;0 1.63 True ENSG00000174243 ENSG00000174243 HGNC:17347 DDX3X gene DDX3X Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Intellectual developmental disorder, X-linked, syndrome, Snijders Blok type MIM# 300958 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 30266093;26235985;25533962;33528536;30936465;31274575;30817323 False 3 100;0;0 1.63 True ENSG00000215301 ENSG00000215301 HGNC:2745 DDX59 gene DDX59 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Orofaciodigital syndrome V, MIM#174300 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 28711741;23972372;29127725 False 3 100;0;0 1.63 True ENSG00000118197 ENSG00000118197 HGNC:25360 DDX6 gene DDX6 Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Intellectual developmental disorder with impaired language and dysmorphic facies, MIM#618653 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 31422817, False 3 100;0;0 1.63 True ENSG00000110367 ENSG00000110367 HGNC:2747 DEAF1 gene DEAF1 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Neurodevelopmental disorder with hypotonia, impaired expressive language, and with or without seizures 617171;Vulto-van Silfout-de Vries syndrome 615828 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 30923367;24726472;26048982;28940898;26834045 False 3 100;0;0 1.63 True ENSG00000177030 ENSG00000177030 HGNC:14677 DEGS1 gene DEGS1 Expert list;Expert Review Green Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Leukodystrophy hypomyelinating 18, MIM#618404 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 31186544;30620337;30620338 False 3 100;0;0 1.63 True ENSG00000143753 ENSG00000143753 HGNC:13709 DENND5A gene DENND5A Expert list;Expert Review Green Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Epileptic encephalopathy, early infantile, 49, MIM# 617281" Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 27431290;27866705 False 3 100;0;0 1.63 True ENSG00000184014 ENSG00000184014 HGNC:19344 DENND5B gene DENND5B Expert Review Green;Other Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental disorder with white matter anomalies, MONDO:0700092, DENND5B-related Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 PMID: 38387458 False 3 100;0;0 1.63 True ENSG00000170456 ENSG00000170456 HGNC:28338 DEPDC5 gene DEPDC5 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Epilepsy, familial focal, with variable foci 1, MIM#604364 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 31444548;23542697;23542701 False 3 100;0;0 1.63 True ENSG00000100150 ENSG00000100150 HGNC:18423 DHCR24 gene DHCR24 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Desmosterolosis, MIM# 602398 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 11519011;24961299;29175559;21559050;12457401;21671375 False 3 100;0;0 1.63 True ENSG00000116133 ENSG00000116133 HGNC:2859 DHCR7 gene DHCR7 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Smith-Lemli-Opitz syndrome MONDO:0010035 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 https://search.clinicalgenome.org/CCID:004643 False 3 100;0;0 1.63 True ENSG00000172893 ENSG00000172893 HGNC:2860 DHDDS gene DHDDS Expert list;Expert Review Green Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Developmental delay and seizures with or without movement abnormalities, MIM#617836 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 29100083 False 3 100;0;0 1.63 True ENSG00000117682 ENSG00000117682 HGNC:20603 DHFR gene DHFR Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Megaloblastic anemia due to dihydrofolate reductase deficiency, MIM# 613839 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 21310276;21310277 False 3 100;0;0 1.63 True ENSG00000228716 ENSG00000228716 HGNC:2861 DHPS gene DHPS Expert list;Expert Review Green Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with seizures and speech and walking impairment, MIM#618480 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 30661771 False 3 100;0;0 1.63 True ENSG00000095059 ENSG00000095059 HGNC:2869 DHRSX gene DHRSX Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type 1DD, MIM# 301133 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 38821050 False 3 100;0;0 1.63 True ENSG00000169084 ENSG00000169084 HGNC:18399 DHX30 gene DHX30 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental disorder with severe motor impairment and absent language, MIM#617804 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 29100085 False 3 100;0;0 1.63 True ENSG00000132153 ENSG00000132153 HGNC:16716 DHX37 gene DHX37 Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with brain anomalies and with or without vertebral or cardiac anomalies, MIM#618731 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 PMID: 26539891;31256877 False 3 100;0;0 1.63 True ENSG00000150990 ENSG00000150990 HGNC:17210 DHX9 gene DHX9 Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Intellectual developmental disorder, autosomal dominant 75, MIM# 620988 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 37467750 False 3 100;0;0 1.63 True ENSG00000135829 ENSG00000135829 HGNC:2750 DIAPH1 gene DIAPH1 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal progressive microcephaly-seizures-cortical blindness-developmental delay syndrome MONDO:0014714 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 39076976;24781755;26463574;33662367 False 3 67;33;0 1.63 True ENSG00000131504 ENSG00000131504 HGNC:2876 DIP2C gene DIP2C Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental disorder (MONDO#0700092), DIP2C-related Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 PMID: 38421105 False 3 100;0;0 1.63 True ENSG00000151240 ENSG00000151240 HGNC:29150 DIS3L2 gene DIS3L2 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Perlman syndrome MONDO:0009965 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 16278893;22306653;28328139 False 3 100;0;0 1.63 True ENSG00000144535 ENSG00000144535 HGNC:28648 DISP1 gene DISP1 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Holoprosencephaly (MONDO:0016296), DISP1-related Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 19184110;26748417;23542665;38529886 False 3 100;0;0 1.63 True ENSG00000154309 ENSG00000154309 HGNC:19711 DKC1 gene DKC1 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females DKC1-related disorder MONDO:0100152 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 https://search.clinicalgenome.org/CCID:004651 False 3 100;0;0 1.63 True ENSG00000130826 ENSG00000130826 HGNC:2890 DLD gene DLD Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Dihydrolipoamide dehydrogenase deficiency MIM#246900 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 34745891;33092611;8968745 False 3 100;0;0 1.63 True ENSG00000091140 ENSG00000091140 HGNC:2898 DLG3 gene DLG3 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Mental retardation, X-linked 90, MIM#300850 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 28777483;24721225 False 3 100;0;0 1.63 True ENSG00000082458 ENSG00000082458 HGNC:2902 DLG4 gene DLG4 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Intellectual developmental disorder 62, MIM# 618793" Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 33597769;27479843;25123844;19617690;29460436;23020937;28135719 False 3 100;0;0 1.63 True ENSG00000132535 ENSG00000132535 HGNC:2903 DLL1 gene DLL1 Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Intellectual disability;autism;seizures;variable brain abnormalities;scoliosis Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 31353024 False 3 100;0;0 1.63 True ENSG00000198719 ENSG00000198719 HGNC:2908 DMAP1 gene DMAP1 Expert Review Green;Other Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder, MONDO:0700092, DMAP1-related Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 3 50;50;0 1.63 True ENSG00000178028 ENSG00000178028 HGNC:18291 DMD gene DMD Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Duchenne muscular dystrophy MIM#310200 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 3 100;0;0 1.63 True ENSG00000198947 ENSG00000198947 HGNC:2928 DMXL2 gene DMXL2 Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Epileptic encephalopathy, early infantile, 81, MIM# 618663" Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 31688942;30237576 False 3 100;0;0 1.63 True ENSG00000104093 ENSG00000104093 HGNC:2938 DNAJC12 gene DNAJC12 Expert list;Expert Review Green Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Hyperphenylalaninemia, mild, non-BH4-deficient, MIM#617384 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 3 100;0;0 1.63 True ENSG00000108176 ENSG00000108176 HGNC:28908 DNAJC19 gene DNAJC19 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal 3-methylglutaconic aciduria type 5 MONDO:0012435 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 3 100;0;0 1.63 True ENSG00000205981 ENSG00000205981 HGNC:30528 DNM1 gene DNM1 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Developmental and epileptic encephalopathy 31A, autosomal dominant, MIM# 616346;Developmental and epileptic encephalopathy 31B, autosomal recessive, MIM# 620352 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 25262651;27066543;33372033;34172529 False 3 100;0;0 1.63 True ENSG00000106976 ENSG00000106976 HGNC:2972 DNM1L gene DNM1L Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1, MIM#614388 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 3 100;0;0 1.63 True ENSG00000087470 ENSG00000087470 HGNC:2973 DNMT3A gene DNMT3A Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Tatton-Brown-Rahman syndrome, MIM#615879;primordial dwarfism with intellectual disability and microcephaly Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 30478443;24614070 False 3 100;0;0 1.63 True ENSG00000119772 ENSG00000119772 HGNC:2978 DNMT3B gene DNMT3B Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal immunodeficiency-centromeric instability-facial anomalies syndrome 1 MONDO:0009454 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 3 100;0;0 1.63 True ENSG00000088305 ENSG00000088305 HGNC:2979 DOCK3 gene DOCK3 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia, MIM#618292 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 28195318;29130632;30976111 False 3 100;0;0 1.63 True ENSG00000088538 ENSG00000088538 HGNC:2989 DOCK4 gene DOCK4 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted DOCK4-related neurodevelopmental disorder (MONDO:0060490) Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 38526744 False 3 50;0;50 1.63 True ENSG00000128512 ENSG00000128512 HGNC:19192 DOCK6 gene DOCK6 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Adams-Oliver syndrome 2, MIM#614219 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 3 100;0;0 1.63 True ENSG00000130158 ENSG00000130158 HGNC:19189 DOCK7 gene DOCK7 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Developmental and epileptic encephalopathy 23 MIM#615859;MONDO:0014371 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 24814191;30771731;30807358 False 3 100;0;0 1.63 True ENSG00000116641 ENSG00000116641 HGNC:19190 DOHH gene DOHH Expert list;Expert Review Green Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with microcephaly, cerebral atrophy, and visual impairment, MIM# 620066 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 PMID: 35858628 False 3 100;0;0 1.63 True ENSG00000129932 ENSG00000129932 HGNC:28662 DOLK gene DOLK Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal DK1-CDG, MONDO:0012556;Congenital disorder of glycosylation, type Im, MIM# 610768 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 17273964;22242004;23890587;30653653;28816422;24144945 False 3 100;0;0 1.63 True ENSG00000175283 ENSG00000175283 HGNC:23406 DOT1L gene DOT1L Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental disorder, MONDO:0700092, DOT1L-related Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 37827158 False 3 100;0;0 1.63 True Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000104885 ENSG00000104885 HGNC:24948 DPAGT1 gene DPAGT1 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type Ij, MIM# 608093;DPAGT1-CDG MONDO:0011964 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 12872255;22492991;22304930;31153949;30653653;30117111 False 3 100;0;0 1.63 True ENSG00000172269 ENSG00000172269 HGNC:2995 DPF2 gene DPF2 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Coffin-Siris syndrome 7, MIM#618027 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 29429572;31706665 False 3 100;0;0 1.63 True ENSG00000133884 ENSG00000133884 HGNC:9964 DPH1 gene DPH1 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Developmental delay with short stature, dysmorphic facial features, and sparse hair, MIM#616901 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 29362492;29410513;25558065;26220823 False 3 100;0;0 1.63 True ENSG00000108963 ENSG00000108963 HGNC:3003 DPH5 gene DPH5 Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties 620070" Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 3 100;0;0 1.63 True ENSG00000117543 ENSG00000117543 HGNC:24270 DPM1 gene DPM1 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type Ie, MIM# 608799 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 10642602;23856421;16641202;15669674;10642597 False 3 100;0;0 1.63 True ENSG00000000419 ENSG00000000419 HGNC:3005 DPM2 gene DPM2 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type Iu, MIM#615042 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 23109149 False 3 100;0;0 1.63 True ENSG00000136908 ENSG00000136908 HGNC:3006 DPYS gene DPYS Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Dihydropyrimidinuria, MIM#222748 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 3 100;0;0 1.63 True ENSG00000147647 ENSG00000147647 HGNC:3013 DPYSL5 gene DPYSL5 Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Ritscher-Schinzel syndrome 4, MIM# 619435;Neurodevelopmental disorder with corpus callosum agenesis and cerebellar abnormalities Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 33894126 False 3 100;0;0 1.63 True ENSG00000157851 ENSG00000157851 HGNC:20637 DRG1 gene DRG1 Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Tan-Almurshedi syndrome, MIM# 620641 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 PMID: 37179472 False 3 100;0;0 1.63 True ENSG00000185721 ENSG00000185721 HGNC:3029 DTYMK gene DTYMK Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Neurodegeneration, childhood-onset, with progressive microcephaly (MIM# 619847) Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 31271740;34918187 False 3 50;0;50 1.63 True ENSG00000168393 ENSG00000168393 HGNC:3061 DYM gene DYM Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Dyggve-Melchior-Clausen disease, MIM#223800 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 3 100;0;0 1.63 True ENSG00000141627 ENSG00000141627 HGNC:21317 DYNC1H1 gene DYNC1H1 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted dyneinopathy MONDO:1040031 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 3 100;0;0 1.63 True ENSG00000197102 ENSG00000197102 HGNC:2961 DYNC1I2 gene DYNC1I2 Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Neurodevelopmental disorder with microcephaly and structural brain anomalies , MIM#618492" Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 31079899 False 3 100;0;0 1.63 True ENSG00000077380 ENSG00000077380 HGNC:2964 DYRK1A gene DYRK1A Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Mental retardation, autosomal dominant 7 (MIM#614104) Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 25707398 False 3 100;0;0 1.63 True ENSG00000157540 ENSG00000157540 HGNC:3091 EARS2 gene EARS2 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 12, MIM#614924 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 22492562 False 3 100;0;0 1.63 True ENSG00000103356 ENSG00000103356 HGNC:29419 EBF3 gene EBF3 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hypotonia, ataxia, and delayed development syndrome, MIM# 617330 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 28017373;28017372;28017370;32366537 False 3 100;0;0 1.63 True ENSG00000108001 ENSG00000108001 HGNC:19087 EBP gene EBP Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Chondrodysplasia punctata, X-linked dominant MIM#302960;Conradi-Hunermann syndrome;MEND syndrome, MIM#300960 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 3 100;0;0 1.63 True ENSG00000147155 ENSG00000147155 HGNC:3133 EDEM3 gene EDEM3 Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type 2V, MIM# 619493 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 34143952 False 3 100;0;0 1.63 True ENSG00000116406 ENSG00000116406 HGNC:16787 EED gene EED Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cohen-Gibson syndrome, MIM# 617561 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 25787343;27193220;27868325;28229514 False 3 100;0;0 1.63 True ENSG00000074266 ENSG00000074266 HGNC:3188 EEF1A2 gene EEF1A2 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Mental retardation, autosomal dominant 38, MIM# 616393;MONDO:0014617;Developmental and epileptic encephalopathy 33, MIM# 616409;MONDO:0014625 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 24697219;32196822;32160274;32062104;31893083 False 3 100;0;0 1.63 True Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000101210 ENSG00000101210 HGNC:3192 EEF1B2 gene EEF1B2 Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal neurodevelopmental disorder MONDO:0700092;non-syndromic ID and seizures;Intellectual disability Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 31845318;21937992;35015920 False 3 50;50;0 1.63 True ENSG00000114942 ENSG00000114942 HGNC:3208 EEF2 gene EEF2 Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental disorder;macrocephaly;hydrocephalus Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 33355653 False 3 100;0;0 1.63 True ENSG00000167658 ENSG00000167658 HGNC:3214 EEFSEC gene EEFSEC Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder, MONDO:0700092, EEFSEC-related Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 39753114 False 3 100;0;0 1.63 True ENSG00000132394 ENSG00000132394 HGNC:24614 EFTUD2 gene EFTUD2 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Mandibulofacial dysostosis, Guion-Almeida type, MIM# 610536;Mandibulofacial dysostosis-microcephaly syndrome MONDO:0012516 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 22305528;23188108;33601405;33262786;26507355 False 3 100;0;0 1.63 True ENSG00000108883 ENSG00000108883 HGNC:30858 EHMT1 gene EHMT1 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Kleefstra syndrome 1, MIM# 610253;MONDO:0027407 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 16826528;19264732;19293338;22670143;30448833 False 3 100;0;0 1.63 True ENSG00000181090 ENSG00000181090 HGNC:24650 EIF2AK2 gene EIF2AK2 Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Intellectual disability;white matter abnormalities;ataxia;regression with febrile illness Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 32197074 False 3 100;0;0 1.63 True ENSG00000055332 ENSG00000055332 HGNC:9437 EIF2AK3 gene EIF2AK3 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 20202148 False 3 100;0;0 1.63 True ENSG00000172071 ENSG00000172071 HGNC:3255 EIF2S3 gene EIF2S3 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females MEHMO syndrome, MIM# 300148 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 23063529;27333055;28055140;32799315 False 3 100;0;0 1.63 True ENSG00000130741 ENSG00000130741 HGNC:3267 EIF3F gene EIF3F Expert list;Expert Review Green Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Mental retardation, autosomal recessive 67, MIM# 618295" Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 30409806;33736665 False 3 100;0;0 1.63 True ENSG00000175390 ENSG00000175390 HGNC:3275 EIF4A2 gene EIF4A2 Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Neurodevelopmental disorder with hypotonia and speech delay, with or without seizures, MIM# 620455 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 PMID: 36528028 False 3 100;0;0 1.63 True Other ENSG00000156976 ENSG00000156976 HGNC:3284 EIF4A3 gene EIF4A3 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Robin sequence with cleft mandible and limb anomalies, MIM# 268305;Richieri-Costa-Pereira syndrome Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 24360810 False 3 100;0;0 1.63 True ENSG00000141543 ENSG00000141543 HGNC:18683 EIF5A gene EIF5A Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Faundes-Banka syndrome, MIM# 619376;Intellectual disability;microcephaly;dysmorphism Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 33547280 False 3 100;0;0 1.63 True ENSG00000132507 ENSG00000132507 HGNC:3300 ELAC2 gene ELAC2 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 17, MIM#615440 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 23849775;31045291 False 3 100;0;0 1.63 True ENSG00000006744 ENSG00000006744 HGNC:14198 ELOVL4 gene ELOVL4 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome MONDO:0013760 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 37592902 False 3 100;0;0 1.63 True ENSG00000118402 ENSG00000118402 HGNC:14415 ELP2 gene ELP2 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal intellectual disability, autosomal recessive 58 MONDO:0014996 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 33510603: 33976153: 33393008: 34653680: 25847581 False 3 100;0;0 1.63 True ENSG00000134759 ENSG00000134759 HGNC:18248 EMC1 gene EMC1 Expert list;Expert Review Green Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal "Cerebellar atrophy, visual impairment, and psychomotor retardation, MIM# 616875" Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 26942288;29271071;35234901 False 3 100;0;0 1.63 True ENSG00000127463 ENSG00000127463 HGNC:28957 EMC10 gene EMC10 Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with dysmorphic facies and variable seizures, MIM# 619264 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 PMID: 32869858;33531666 False 3 50;0;50 1.63 True ENSG00000161671 ENSG00000161671 HGNC:27609 EML1 gene EML1 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Band heterotopia (MIM# 600348) Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 31710781 False 3 100;0;0 1.63 True ENSG00000066629 ENSG00000066629 HGNC:3330 ENTPD1 gene ENTPD1 Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Spastic paraplegia 64, autosomal recessive, MIM# 615683" Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 35471564 False 3 100;0;0 1.63 True ENSG00000138185 ENSG00000138185 HGNC:3363 EP300 gene EP300 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Rubinstein-Taybi syndrome MONDO:0019188 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 https://search.clinicalgenome.org/CCID:004751 False 3 100;0;0 1.63 True ENSG00000100393 ENSG00000100393 HGNC:3373 EP400 gene EP400 Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal neurodevelopmental disorder with or without early-onset generalized epilepsy - MONDO:0030930 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 39708813 False 3 100;0;0 1.63 True ENSG00000183495 ENSG00000183495 HGNC:11958 EPB41L3 gene EPB41L3 Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal neurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalities MONDO:0030063 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 39292993 False 3 100;0;0 1.63 True ENSG00000082397 ENSG00000082397 HGNC:3380 EPG5 gene EPG5 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Vici syndrome, MIM# 242840 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 23222957;26917586 False 3 100;0;0 1.63 True ENSG00000152223 ENSG00000152223 HGNC:29331 EPRS gene EPRS Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Leukodystrophy, hypomyelinating, 15 (MIM#617951) Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 29576217, 36411955 False 3 100;0;0 1.63 True ENSG00000136628 ENSG00000136628 HGNC:3418 ERCC1 gene ERCC1 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Cerebrooculofacioskeletal syndrome 4, MIM# 610758;MONDO:0012554 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 17273966;23623389;32557569;26085086;33315086 False 3 100;0;0 1.63 True ENSG00000012061 ENSG00000012061 HGNC:3433 ERCC2 gene ERCC2 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal xeroderma pigmentosum group D MONDO:0010212;trichothiodystrophy 1, photosensitive MONDO:0011125;cerebrooculofacioskeletal syndrome 2 MONDO:0012553 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 20301571 False 3 100;0;0 1.63 True ENSG00000104884 ENSG00000104884 HGNC:3434 ERCC3 gene ERCC3 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal xeroderma pigmentosum group B MONDO:0012531 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 20301571 False 3 100;0;0 1.63 True ENSG00000163161 ENSG00000163161 HGNC:3435 ERCC5 gene ERCC5 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Cerebrooculofacioskeletal syndrome 3, MIM# 616570;MONDO:0014696;Xeroderma pigmentosum, group G, MIM# 278780;MONDO:0010216 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 7951246;9096355;9096355;24700531;33766032;33219753 False 3 100;0;0 1.63 True ENSG00000134899 ENSG00000134899 HGNC:3437 ERCC6 gene ERCC6 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Cockayne spectrum with or without cerebrooculofacioskeletal syndrome MONDO:0100506 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 20301516 False 3 100;0;0 1.63 True ENSG00000225830 ENSG00000225830 HGNC:3438 ERCC6L2 gene ERCC6L2 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal pancytopenia-developmental delay syndrome MONDO:0014317 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 24507776;27185855;28815563;29633571;36790458 False 3 50;50;0 1.63 True ENSG00000182150 ENSG00000182150 HGNC:26922 ERCC8 gene ERCC8 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Cockayne syndrome type 1 MONDO:0019569 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 20301516 False 3 100;0;0 1.63 True ENSG00000049167 ENSG00000049167 HGNC:3439 ERF gene ERF Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Chitayat syndrome, MIM#617180;Craniosynostosis 4, MIM#600775 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 3 50;0;50 1.63 True ENSG00000105722 ENSG00000105722 HGNC:3444 ERI1 gene ERI1 Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Hoxha-Aliu syndrome, MIM# 620662 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 37352860 False 3 100;0;0 1.63 True ENSG00000104626 ENSG00000104626 HGNC:23994 ERLIN2 gene ERLIN2 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia 18, autosomal recessive, MIM#611225 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 3 100;0;0 1.63 True ENSG00000147475 ENSG00000147475 HGNC:1356 ESAM gene ESAM Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with intracranial haemorrhage, seizures, and spasticity, MIM# 620371 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 36996813 False 3 100;0;0 1.63 True ENSG00000149564 ENSG00000149564 HGNC:17474 ESCO2 gene ESCO2 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Roberts-SC phocomelia syndrome MONDO:0100253 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 20301332 False 3 100;0;0 1.63 True ENSG00000171320 ENSG00000171320 HGNC:27230 ETFA gene ETFA Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Glutaric acidemia IIA, MIM#231680 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 3 100;0;0 1.63 True ENSG00000140374 ENSG00000140374 HGNC:3481 ETFB gene ETFB Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Glutaric acidemia IIB, MIM#231680 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 3 100;0;0 1.63 True ENSG00000105379 ENSG00000105379 HGNC:3482 ETFDH gene ETFDH Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Glutaric acidemia IIC, MIM#231680 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 3 100;0;0 1.63 True ENSG00000171503 ENSG00000171503 HGNC:3483 ETHE1 gene ETHE1 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Ethylmalonic encephalopathy , MIM#602473 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 14732903;28933811 False 3 100;0;0 1.63 True ENSG00000105755 ENSG00000105755 HGNC:23287 EXOC7 gene EXOC7 Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal brain atrophy;seizures;developmental delay;microcephaly Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 PMID: 32103185 False 3 100;0;0 1.63 True ENSG00000182473 ENSG00000182473 HGNC:23214 EXOSC3 gene EXOSC3 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Pontocerebellar hypoplasia, type 1B, MIM# 614678 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 22544365;23975261;25149867;23284067 False 3 100;0;0 1.63 True ENSG00000107371 ENSG00000107371 HGNC:17944 EXOSC8 gene EXOSC8 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Pontocerebellar hypoplasia, type 1C, MIM#616081 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 24989451;29656927 False 3 100;0;0 1.63 True ENSG00000120699 ENSG00000120699 HGNC:17035 EXT2 gene EXT2 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Seizures, scoliosis, and macrocephaly syndrome, MIM#616682 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 30288735;30075207;26246518 False 3 100;0;0 1.63 True ENSG00000151348 ENSG00000151348 HGNC:3513 EXTL3 gene EXTL3 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Immunoskeletal dysplasia with neurodevelopmental abnormalities, MIM# 617425 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 28132690;28148688 False 3 100;0;0 1.63 True ENSG00000012232 ENSG00000012232 HGNC:3518 EZH1 gene EZH1 Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Neurodevelopmental disorder (MONDO:0700092), EZH1-related Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 37433783 False 3 100;0;0 1.63 True ENSG00000108799 ENSG00000108799 HGNC:3526 EZH2 gene EZH2 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Weaver syndrome MIM#277590 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 29244146;23865096 False 3 100;0;0 1.63 True ENSG00000106462 ENSG00000106462 HGNC:3527 FAM126A gene FAM126A Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal hypomyelinating leukodystrophy 5 MONDO:0012514 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 20301737 False 3 100;0;0 1.63 True ENSG00000122591 ENSG00000122591 HGNC:24587 FAM149B1 gene FAM149B1 Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Joubert;Ciliopathy Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 30905400 False 3 100;0;0 1.63 True ENSG00000138286 ENSG00000138286 HGNC:29162 FAM177A1 gene FAM177A1 Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder, MONDO_0100500, FAM177a1-related Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 PMID: 38767059, 25558065 False 3 100;0;0 1.63 True ENSG00000151327 ENSG00000151327 HGNC:19829 FAM20C gene FAM20C Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal lethal osteosclerotic bone dysplasia MONDO:0009821 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 34360805 False 3 100;0;0 1.63 True ENSG00000177706 ENSG00000177706 HGNC:22140 FAM50A gene FAM50A Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Mental retardation syndrome, X-linked, Armfield type (MIM #300261) Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 32703943 False 3 100;0;0 1.63 True ENSG00000071859 ENSG00000071859 HGNC:18786 FAR1 gene FAR1 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Peroxisomal fatty acyl-CoA reductase 1 disorder, MIM#616154;Cataracts, spastic paraparesis, and speech delay, MIM#619338 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 25439727;33239752 False 3 100;0;0 1.63 True ENSG00000197601 ENSG00000197601 HGNC:26222 FARS2 gene FARS2 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 14, MIM#614946 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 22499341;22833457 False 3 100;0;0 1.63 True ENSG00000145982 ENSG00000145982 HGNC:21062 FARSA gene FARSA Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Rajab interstitial lung disease with brain calcifications 2 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 PMID: 33598926 False 3 100;0;0 1.63 True ENSG00000179115 ENSG00000179115 HGNC:3592 FARSB gene FARSB Expert list;Expert Review Green Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Rajab syndrome, MIM#613658;interstitial lung disease;brain calcifications;microcephaly;intellectual disability Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 29573043;19161147;29979980;30014610 False 3 100;0;0 1.63 True ENSG00000116120 ENSG00000116120 HGNC:17800 FASTKD2 gene FASTKD2 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex IV deficiency, MIM#220110 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 18771761;28499982;31944455;34234304 False 3 50;50;0 1.63 True ENSG00000118246 ENSG00000118246 HGNC:29160 FAT4 gene FAT4 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Hennekam syndrome MONDO:0016256;van Maldergem syndrome MONDO:0017813 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 29681106 False 3 100;0;0 1.63 True ENSG00000196159 ENSG00000196159 HGNC:23109 FBRSL1 gene FBRSL1 Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Malformation and intellectual disability syndrome Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 PMID: 32424618 False 3 100;0;0 1.63 True ENSG00000112787 ENSG00000112787 HGNC:29308 FBXL3 gene FBXL3 Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Intellectual developmental disorder with short stature, facial anomalies, and speech defects;OMIM #606220 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 PubMed: 30481285 False 3 0;100;0 1.63 True ENSG00000005812 ENSG00000005812 HGNC:13599 FBXL4 gene FBXL4 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Leigh syndrome MONDO:0009723 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 28383868 False 3 100;0;0 1.63 True ENSG00000112234 ENSG00000112234 HGNC:13601 FBXO11 gene FBXO11 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Intellectual Developmental Disorder with Dysmorphic Facies and Behavioural Abnormalities, MIM#618089 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 30679813;30057029;29796876 False 3 100;0;0 1.63 True ENSG00000138081 ENSG00000138081 HGNC:13590 FBXO28 gene FBXO28 Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Developmental and epileptic encephalopathy 100, MIM# 619777 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 33280099 False 3 100;0;0 1.63 True ENSG00000143756 ENSG00000143756 HGNC:29046 FBXO31 gene FBXO31 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Mental retardation, autosomal recessive 45, MIM#615979;Spastic-dystonic cerebral palsy, de novo dominant Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 24623383;32989326;33675180 False 3 50;50;0 1.63 True Other ENSG00000103264 ENSG00000103264 HGNC:16510 FBXW11 gene FBXW11 Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Neurodevelopmental, eye, jaw, and digital syndrome (NDEJD), MIM#618914;Intellectual disability;developmental eye anomalies;digital anomalies Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 PMID: 31402090 False 3 100;0;0 1.63 True ENSG00000072803 ENSG00000072803 HGNC:13607 FBXW7 gene FBXW7 Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Developmental delay, hypotonia, and impaired language, MIM# 620012 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 33057194 False 3 100;0;0 1.63 True ENSG00000109670 ENSG00000109670 HGNC:16712 FDFT1 gene FDFT1 Expert list;Expert Review Green Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Squalene synthase deficiency, MIM#618156 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 29909962 False 3 100;0;0 1.63 True ENSG00000079459 ENSG00000079459 HGNC:3629 FDXR gene FDXR Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with mitochondrial abnormalities, optic atrophy, and developmental regression, MIM# 620887;Auditory neuropathy and optic atrophy, MIM# 617717 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 30250212;29040572;33348459;37046037;37481223 False 3 100;0;0 1.63 True ENSG00000161513 ENSG00000161513 HGNC:3642 FEM1B gene FEM1B Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Syndromic disease MONDO:0002254, FEM1B-related Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 31036916;38465576 False 3 100;0;0 1.63 True ENSG00000169018 ENSG00000169018 HGNC:3649 FEM1C gene FEM1C Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Neurodevelopmental disorder, FEM1C-related MONDO:0700092 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 36336956;28135719;33398170;33398168 False 3 100;0;0 1.63 True ENSG00000145780 ENSG00000145780 HGNC:16933 FEZF2 gene FEZF2 Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted neurodevelopmental disorder MONDO:0700092, FEZF2-related Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 38425142 False 3 100;0;0 1.63 True ENSG00000153266 ENSG00000153266 HGNC:13506 FGD1 gene FGD1 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Aarskog-Scott syndrome, MIM # 305400;Mental retardation, X-linked syndromic 16, MIM# 305400 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 7954831;20082460 False 3 100;0;0 1.63 True ENSG00000102302 ENSG00000102302 HGNC:3663 FGF12 gene FGF12 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Developmental and epileptic encephalopathy 47, MIM# 617166 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 32645220;27164707;27830185;27872899 False 3 100;0;0 1.63 True ENSG00000114279 ENSG00000114279 HGNC:3668 FGF13 gene FGF13 Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Developmental and epileptic encephalopathy 90, MIM# 301058;Intellectual developmental disorder, X-linked 110, MIM# 301095 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 33245860;34184986 False 3 100;0;0 1.63 True Other ENSG00000129682 ENSG00000129682 HGNC:3670 FGF14 gene FGF14 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Spinocerebellar ataxia 27, MIM# 609307;Vestibulocerebellar disorder with predominant ocular signs, MIM# 193003 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 3 100;0;0 1.63 True ENSG00000102466 ENSG00000102466 HGNC:3671 FGFR1 gene FGFR1 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hartsfield syndrome, MIM# 615465 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 23812909 False 3 100;0;0 1.63 True ENSG00000077782 ENSG00000077782 HGNC:3688 FGFR3 gene FGFR3 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal CATSHL syndrome 610474;Hypochondroplasia 146000;SADDAN 616482;Muenke syndrome 602849;Thanatophoric dysplasia, type I 187600 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 3 100;0;0 1.63 True ENSG00000068078 ENSG00000068078 HGNC:3690 FH gene FH Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Fumarase deficiency (MIM# 606812) Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 31746132;29052812;21560188 False 3 100;0;0 1.63 True ENSG00000091483 ENSG00000091483 HGNC:3700 FIG4 gene FIG4 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Charcot-Marie-Tooth disease MONDO:0015626 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 32385905;34122524;36529678 False 3 100;0;0 1.63 True ENSG00000112367 ENSG00000112367 HGNC:16873 FITM2 gene FITM2 Expert list;Expert Review Green Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Siddiqi syndrome MIM#618635 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 28067622;30214770;30288795 False 3 100;0;0 1.63 True ENSG00000197296 ENSG00000197296 HGNC:16135 FKRP gene FKRP Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal myopathy caused by variation in FKRP MONDO:0700066 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 33200426;11053680;12654965;14652796;15121789 False 3 100;0;0 1.63 True ENSG00000181027 ENSG00000181027 HGNC:17997 FKTN gene FKTN Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Myopathy caused by variation in FKTN MONDO:0700067 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 20301385 False 3 100;0;0 1.63 True ENSG00000106692 ENSG00000106692 HGNC:3622 FLNA gene FLNA Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) "Heterotopia, periventricular, 1, MIM# 300049" Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 https://search.clinicalgenome.org/CCID:004863 False 3 100;0;0 1.63 True ENSG00000196924 ENSG00000196924 HGNC:3754 FLVCR1 gene FLVCR1 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal neurodevelopmental disorder MONDO:0700092, FLVCR1-related Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 39306721 False 3 50;0;50 1.63 True ENSG00000162769 ENSG00000162769 HGNC:24682 FLVCR2 gene FLVCR2 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome, MIM# 225790 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 30712878;20206334;20518025;20690116;25677735 False 3 100;0;0 1.63 True ENSG00000119686 ENSG00000119686 HGNC:20105 FMN2 gene FMN2 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Intellectual developmental disorder, autosomal recessive 47, MIM#616193 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 25480035;32162566;24161494 False 3 100;0;0 1.63 True ENSG00000155816 ENSG00000155816 HGNC:14074 FMR1 gene FMR1 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females fragile X syndrome MONDO:0010383 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 https://search.clinicalgenome.org/CCID:004870 False 3 100;0;0 1.63 True ENSG00000102081 ENSG00000102081 HGNC:3775 FOLR1 gene FOLR1 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Neurodegeneration due to cerebral folate transport deficiency, MIM# 613068 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 19732866;30420205;27743887 False 3 100;0;0 1.63 True ENSG00000110195 ENSG00000110195 HGNC:3791 FOSL2 gene FOSL2 Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Aplasia cutis-enamel dysplasia syndrome, MIM# 620789 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 36197437 False 3 100;0;0 1.63 True ENSG00000075426 ENSG00000075426 HGNC:3798 FOXG1 gene FOXG1 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted FOXG1 disorder MONDO:0100040 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 18571142;19578037;19564653;28661489 False 3 100;0;0 1.63 True ENSG00000176165 ENSG00000176165 HGNC:3811 FOXP1 gene FOXP1 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Mental retardation with language impairment and with or without autistic features, MIM# 613670 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 26633542;28741757;34109629 False 3 100;0;0 1.63 True ENSG00000114861 ENSG00000114861 HGNC:3823 FOXP2 gene FOXP2 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Speech-language disorder-1, MIM# 602081 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 15877281;15983371;27336128 False 3 100;0;0 1.63 True ENSG00000128573 ENSG00000128573 HGNC:13875 FOXP4 gene FOXP4 Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental disorder (MONDO#0700092), FOXP4-related Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 33110267;36301021 False 3 0;100;0 1.63 True ENSG00000137166 ENSG00000137166 HGNC:20842 FOXRED1 gene FOXRED1 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial disease MONDO:0044970 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 31434271;20818383;20858599 False 3 100;0;0 1.63 True ENSG00000110074 ENSG00000110074 HGNC:26927 FRA10AC1 gene FRA10AC1 Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with growth retardation, dysmorphic facies, and corpus callosum abnormalities, MIM# 620113 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 34694367 False 3 100;0;0 1.63 True ENSG00000148690 ENSG00000148690 HGNC:1162 FRAS1 gene FRAS1 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Fraser syndrome 1, MIM#219000 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 3 100;0;0 1.63 True ENSG00000138759 ENSG00000138759 HGNC:19185 FRMD5 gene FRMD5 Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental disorder with eye movement abnormalities and ataxia, MIM# 620094 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 36206744 False 3 100;0;0 1.63 True ENSG00000171877 ENSG00000171877 HGNC:28214 FRMPD4 gene FRMPD4 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Mental retardation, X-linked 104, MIM#300983 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 25644381;29267967 False 3 100;0;0 1.63 True ENSG00000169933 ENSG00000169933 HGNC:29007 FRRS1L gene FRRS1L Expert list;Expert Review Green Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Epileptic encephalopathy, early infantile, 37, MIM#616981 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 27236917;27239025 False 3 100;0;0 1.63 True ENSG00000260230 ENSG00000260230 HGNC:1362 FRYL gene FRYL Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Pan-Chung-Bellen syndrome, MIM# 621049 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 38479391 False 3 100;0;0 1.63 True ENSG00000075539 ENSG00000075539 HGNC:29127 FSD1L gene FSD1L Expert Review Green;Other Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder, MONDO:0700092, FSD1L-related Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 3 100;0;0 1.63 True ENSG00000106701 ENSG00000106701 HGNC:13753 FTO gene FTO Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Growth retardation, developmental delay, facial dysmorphism, MIM# 612938 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 19559399;26378117;26697951;26378117;26740239 False 3 100;0;0 1.63 True ENSG00000140718 ENSG00000140718 HGNC:24678 FTSJ1 gene FTSJ1 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females "Intellectual developmental disorder, X-linked 9, MIM# 309549;X-linked complex neurodevelopmental disorder MONDO:0100148" Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 https://search.clinicalgenome.org/CCID:004892 False 3 100;0;0 1.63 True ENSG00000068438 ENSG00000068438 HGNC:13254 FUCA1 gene FUCA1 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Fucosidosis MONDO:0009254 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 33266441 False 3 100;0;0 1.63 True ENSG00000179163 ENSG00000179163 HGNC:4006 FUK gene FUK Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation with defective fucosylation 2, MIM# 618324 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 30503518;35718084;36426412 False 3 0;100;0 1.63 True ENSG00000157353 ENSG00000157353 HGNC:29500 FUT8 gene FUT8 Expert list;Expert Review Green Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation with defective fucosylation 1, MIM#618005 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 29304374 False 3 100;0;0 1.63 True ENSG00000033170 ENSG00000033170 HGNC:4019 FZR1 gene FZR1 Expert Review;Expert Review Green Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Developmental and epileptic encephalopathy 109, MIM# 620145 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 34788397 False 3 100;0;0 1.63 True ENSG00000105325 ENSG00000105325 HGNC:24824 GABBR1 gene GABBR1 Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental disorder with language delay and variable cognitive abnormalities, MIM#620502 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 36103875 False 3 100;0;0 1.63 True ENSG00000204681 ENSG00000204681 HGNC:4070 GABBR2 gene GABBR2 Expert list;Expert Review Green Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental disorder with poor language and loss of hand skills, 617903 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 29100083;28061363;28135719;28856709;29369404;29377213 False 3 100;0;0 1.63 True ENSG00000136928 ENSG00000136928 HGNC:4507 GABRA1 gene GABRA1 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Epileptic encephalopathy, early infantile, 19 615744;Rett syndrome;Rett-like phenotypes;idiopathic generalized Epilepsy;Dravet syndrome Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 11992121;21714819;24623842;30842224 False 3 100;0;0 1.63 True ENSG00000022355 ENSG00000022355 HGNC:4075 GABRA2 gene GABRA2 Expert list;Expert Review Green Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Epileptic encephalopathy, early infantile, 78, 618557 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 29422393;29961870;31032849;31032848 False 3 100;0;0 1.63 True ENSG00000151834 ENSG00000151834 HGNC:4076 GABRA3 gene GABRA3 Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Epilepsy, X-linked 2, with or without impaired intellectual development and dysmorphic features, MIM# 301091 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 PMID: 29053855 False 3 100;0;0 1.63 True ENSG00000011677 ENSG00000011677 HGNC:4077 GABRA4 gene GABRA4 Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental disorder MONDO:0700092, GABRA4-related Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 PMID: 38565639 False 3 100;0;0 1.63 True ENSG00000109158 ENSG00000109158 HGNC:4078 GABRA5 gene GABRA5 Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Epileptic encephalopathy, early infantile, 79;OMIM #618559 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 PMID: 31056671;29961870 False 3 100;0;0 1.63 True ENSG00000186297 ENSG00000186297 HGNC:4079 GABRB2 gene GABRB2 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted epileptic encephalopathy, infantile or early childhood, 2 MONDO:0020631 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 38996765 False 3 100;0;0 1.63 True ENSG00000145864 ENSG00000145864 HGNC:4082 GABRB3 gene GABRB3 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Epileptic encephalopathy, early infantile, 43, MIM# 617113 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 23934111;27476654 False 3 100;0;0 1.63 True ENSG00000166206 ENSG00000166206 HGNC:4083 GABRD gene GABRD Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Intellectual disability;Epilepsy;Susceptibility to epilepsy, MIM#613060 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 15115768;34633442 False 3 100;0;0 1.63 True ENSG00000187730 ENSG00000187730 HGNC:4084 GABRG2 gene GABRG2 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Epileptic encephalopathy, early infantile, 74 618396;Epilepsy, generalized, with febrile seizures plus, type 3 607681 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 11326274;11326275;27864268 False 3 100;0;0 1.63 True ENSG00000113327 ENSG00000113327 HGNC:4087 GAD1 gene GAD1 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Cerebral palsy, spastic quadriplegic, 1, MIM#603513;Developmental and epileptic encephalopathy 89, MIM# 619124 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 15571623;32282878 False 3 100;0;0 1.63 True ENSG00000128683 ENSG00000128683 HGNC:4092 GALC gene GALC Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Krabbe disease MONDO:000949 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 20301416 False 3 100;0;0 1.63 True ENSG00000054983 ENSG00000054983 HGNC:4115 GALE gene GALE Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal galactose epimerase deficiency MONDO:0009257 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 21290786 False 3 100;0;0 1.63 True ENSG00000117308 ENSG00000117308 HGNC:4116 GALNT2 gene GALNT2 Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 32293671 False 3 100;0;0 1.63 True ENSG00000143641 ENSG00000143641 HGNC:4124 GALT gene GALT Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Galactosemia, MIM#230400 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 3 100;0;0 1.63 True ENSG00000213930 ENSG00000213930 HGNC:4135 GAMT gene GAMT Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal guanidinoacetate methyltransferase deficiency MONDO:0012999 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 20301745 False 3 100;0;0 1.63 True ENSG00000130005 ENSG00000130005 HGNC:4136 GATA6 gene GATA6 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Pancreatic agenesis and congenital heart defects, MIM#600001 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 22158542 False 3 100;0;0 1.63 True ENSG00000141448 ENSG00000141448 HGNC:4174 GATAD2A gene GATAD2A Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental disorder, MONDO:0700092, GATAD2A-related Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 https://doi.org/10.1016/j.xhgg.2023.100198;17565372 False 3 100;0;0 1.63 True ENSG00000167491 ENSG00000167491 HGNC:29989 GATAD2B gene GATAD2B Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Mental retardation, autosomal dominant 18, OMIM # 615074 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 31949314 False 3 100;0;0 1.63 True ENSG00000143614 ENSG00000143614 HGNC:30778 GATM gene GATM Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Cerebral creatine deficiency syndrome 3, MIM# 612718 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 12468279;20682460;22386973 False 3 100;0;0 1.63 True ENSG00000171766 ENSG00000171766 HGNC:4175 GCDH gene GCDH Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Glutaric aciduria, type I MIM#231670 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 3 100;0;0 1.63 True ENSG00000105607 ENSG00000105607 HGNC:4189 GCH1 gene GCH1 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal GTP cyclohydrolase I deficiency with hyperphenylalaninemia MONDO:0100186 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 22473768;7869202 False 3 100;0;0 1.63 True ENSG00000131979 ENSG00000131979 HGNC:4193 GCSH gene GCSH Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Multiple mitochondrial dysfunctions syndrome 7, MIM# 620423" Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 1671321;36190515 False 3 50;0;50 1.63 True ENSG00000140905 ENSG00000140905 HGNC:4208 GDI1 gene GDI1 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Intellectual developmental disorder, X-linked 41 MIM#300849 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 28863211;22002931;9620768;9668174 False 3 100;0;0 1.63 True ENSG00000203879 ENSG00000203879 HGNC:4226 GEMIN4 gene GEMIN4 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities, MIM# 617913 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 25558065;30237576;27878435 False 3 50;50;0 1.63 True ENSG00000179409 ENSG00000179409 HGNC:15717 GEMIN5 gene GEMIN5 Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Neurodevelopmental disorder with cerebellar atrophy and motor dysfunction, MIM# 619333" Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 33963192 False 3 100;0;0 1.63 True ENSG00000082516 ENSG00000082516 HGNC:20043 GFAP gene GFAP Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Alexander disease MONDO:0008752 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 20301351 False 3 100;0;0 1.63 True ENSG00000131095 ENSG00000131095 HGNC:4235 GFER gene GFER Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay (MIM #613076) Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 28155230 False 3 100;0;0 1.63 True ENSG00000127554 ENSG00000127554 HGNC:4236 GFM1 gene GFM1 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Leigh syndrome MONDO:0009723 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 25852744;31680380;21986555;32776492 False 3 100;0;0 1.63 True ENSG00000168827 ENSG00000168827 HGNC:13780 GFM2 gene GFM2 Expert list;Expert Review Green Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 39, OMIM #618397 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 PMID: 22700954;26016410;29075935 False 3 100;0;0 1.63 True ENSG00000164347 ENSG00000164347 HGNC:29682 GIGYF1 gene GIGYF1 Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Autism spectrum disorder (MONDO:0005258), GIGYF1-related Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 33057194;35917186 False 3 50;50;0 1.63 True ENSG00000146830 ENSG00000146830 HGNC:9126 GJC2 gene GJC2 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal hypomyelinating leukodystrophy 2 MONDO:0012125;hereditary spastic paraplegia 44 MONDO:0013179 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 29276893 False 3 100;0;0 1.63 True ENSG00000198835 ENSG00000198835 HGNC:17494 GK gene GK Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females inborn glycerol kinase deficiency MONDO:0010613;X-linked adrenal hypoplasia congenita MONDO:0010264 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 37091526;33212314 False 3 100;0;0 1.63 True ENSG00000198814 ENSG00000198814 HGNC:4289 GLB1 gene GLB1 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal GM1 gangliosidosis MONDO:0018149;mucopolysaccharidosis type 4B MONDO:0009660 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 24156116 False 3 100;0;0 1.63 True ENSG00000170266 ENSG00000170266 HGNC:4298 GLDC gene GLDC Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal glycine encephalopathy MONDO:0011612 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 20301531 False 3 100;0;0 1.63 True ENSG00000178445 ENSG00000178445 HGNC:4313 GLI2 gene GLI2 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome MONDO:0014369 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 24744436 False 3 100;0;0 1.63 True ENSG00000074047 ENSG00000074047 HGNC:4318 GLI3 gene GLI3 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Greig cephalopolysyndactyly syndrome MONDO:0008287 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 20301619;20301638 False 3 100;0;0 1.63 True ENSG00000106571 ENSG00000106571 HGNC:4319 GLIS3 gene GLIS3 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Diabetes mellitus, neonatal, with congenital hypothyroidism, MIM#610199 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 21139041 False 3 100;0;0 1.63 True ENSG00000107249 ENSG00000107249 HGNC:28510 GLRA2 gene GLRA2 Expert list;Expert Review Green Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Intellectual developmental disorder, X-linked, syndromic, Pilorge type, MIM# 301076 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 26370147;20479760;35294868 False 3 100;0;0 1.63 True ENSG00000101958 ENSG00000101958 HGNC:4327 GLS gene GLS Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Epileptic encephalopathy, early infantile, 71, MIM# 618328;Global developmental delay, progressive ataxia, and elevated glutamine, MIM# 618412 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 30970188;30239721;30575854 False 3 100;0;0 1.63 True Other ENSG00000115419 ENSG00000115419 HGNC:4331 GLUL gene GLUL Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Glutamine deficiency, congenital MIM#610015;Developmental and epileptic encephalopathy 116, MIM# 620806 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 16267323;21353613;33150193 False 3 100;0;0 1.63 True ENSG00000135821 ENSG00000135821 HGNC:4341 GM2A gene GM2A Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Tay-Sachs disease AB variant MONDO:0010099 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 33819415;20301397 False 3 100;0;0 1.63 True ENSG00000196743 ENSG00000196743 HGNC:4367 GMPPA gene GMPPA Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal alacrima, achalasia, and intellectual disability syndrome MONDO:0014219 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 31898852;35607266 False 3 100;0;0 1.63 True ENSG00000144591 ENSG00000144591 HGNC:22923 GMPPB gene GMPPB Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal myopathy caused by variation in GMPPB MONDO:0700084 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 23768512;26133662;27147698 False 3 100;0;0 1.63 True ENSG00000173540 ENSG00000173540 HGNC:22932 GNAI1 gene GNAI1 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental disorder with hypotonia, impaired speech, and behavioral abnormalities, MIM# 619854 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 28135719;33473207 False 3 100;0;0 1.63 True ENSG00000127955 ENSG00000127955 HGNC:4384 GNAO1 gene GNAO1 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Epileptic encephalopathy, early infantile, 17;Neurodevelopmental disorder with involuntary movements Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 28747448;30682224 False 3 100;0;0 1.63 True Other ENSG00000087258 ENSG00000087258 HGNC:4389 GNAS gene GNAS Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Pseudohypoparathyroidism Ia (103580);Pseudohypoparathyroidism Ib (603233);Pseudohypoparathyroidism Ic (612462);Pseudopseudohypoparathyroidism (612463) Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 3 100;0;0 1.63 True ENSG00000087460 ENSG00000087460 HGNC:4392 GNB1 gene GNB1 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Mental retardation, autosomal dominant 42, MIM# 616973 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 27108799;30194818;27668284;31034681 False 3 100;0;0 1.63 True ENSG00000078369 ENSG00000078369 HGNC:4396 GNB2 gene GNB2 Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Neurodevelopmental disorder with hypotonia and dysmorphic facies, MIM# 619503" Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 31698099;33971351;34183358;33057194 False 3 67;33;0 1.63 True ENSG00000172354 ENSG00000172354 HGNC:4398 GNB5 gene GNB5 Expert list;Expert Review Green Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Intellectual developmental disorder with cardiac arrhythmia, 617173;Language delay and ADHD/cognitive impairment with or without cardiac arrhythmia, 617182;Early infantile epileptic encephalopathy (EIEE) Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 27523599;27677260;28697420;29368331 False 3 100;0;0 1.63 True ENSG00000069966 ENSG00000069966 HGNC:4401 GNE gene GNE Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Sialuria, MIM#269921 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 3 100;0;0 1.63 True ENSG00000159921 ENSG00000159921 HGNC:23657 GNPAT gene GNPAT Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal glyceronephosphate O-acyltransferase deficiency MONDO:0100273 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 9843043;19270340;21990100 False 3 100;0;0 1.63 True ENSG00000116906 ENSG00000116906 HGNC:4416 GNPTAB gene GNPTAB Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal GNPTAB-mucolipidosis MONDO:0100122 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 20301728 False 3 0;0;0 1.63 True ENSG00000111670 ENSG00000111670 HGNC:29670 GNPTG gene GNPTG Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mucolipidosis III gamma, MIM# 252605;MONDO:0009652 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 10712439;19370764;19659762;33507475;33023972;32651481 False 3 100;0;0 1.63 True ENSG00000090581 ENSG00000090581 HGNC:23026 GNS gene GNS Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal mucopolysaccharidosis type 3D MONDO:0009658 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 31536183;25851924;17998446;6450420 False 3 100;0;0 1.63 True ENSG00000135677 ENSG00000135677 HGNC:4422 GOLGA2 gene GOLGA2 Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Developmental delay with hypotonia, myopathy, and brain abnormalities, MIM 620240 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 PMID: 30237576;26742501;34424553 False 3 50;50;0 1.63 True ENSG00000167110 ENSG00000167110 HGNC:4425 GON4L gene GON4L Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal complex neurodevelopmental disorder MONDO:0100038 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 39500882;21937992 False 3 100;0;0 1.63 True ENSG00000116580 ENSG00000116580 HGNC:25973 GOT2 gene GOT2 Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Epileptic encephalopathy, early infantile, 82, MIM# 618721" Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 31422819 False 3 100;0;0 1.63 True ENSG00000125166 ENSG00000125166 HGNC:4433 GPAA1 gene GPAA1 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Glycosylphosphatidylinositol biosynthesis defect 15, MIM# 617810 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 29100095 False 3 100;0;0 1.63 True ENSG00000197858 ENSG00000197858 HGNC:4446 GPATCH11 gene GPATCH11 Expert Review Green;Other Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder, MONDO:0700092, GPATCH11-related;Leber congenital amaurosis and developmental delay Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 39572588 False 3 100;0;0 1.63 True ENSG00000152133 ENSG00000152133 HGNC:26768 GPC3 gene GPC3 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Simpson-Golabi-Behmel syndrome MONDO:0010731 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 https://search.clinicalgenome.org/CCID:004990 False 3 100;0;0 1.63 True ENSG00000147257 ENSG00000147257 HGNC:4451 GPC4 gene GPC4 Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Keipert syndrome OMIM# 301026 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 PMID: 30982611 False 3 100;0;0 1.63 True ENSG00000076716 ENSG00000076716 HGNC:4452 GPRC5B gene GPRC5B Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Megalencephalic leukoencephalopathy with subcortical cysts 3 MIM#620447 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 PMID: 37143309 False 3 100;0;0 1.63 True ENSG00000167191 ENSG00000167191 HGNC:13308 GPT2 gene GPT2 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with microcephaly and spastic paraplegia, MIM# 616281 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 27601654;25758935 False 3 100;0;0 1.63 True ENSG00000166123 ENSG00000166123 HGNC:18062 GRIA1 gene GRIA1 Expert list;Expert Review Green Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Intellectual developmental disorder, autosomal dominant 67, MIM# 619927;Intellectual developmental disorder, autosomal recessive 76, MIM# 619931 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 28628100;23033978;26350204;24896178 False 3 100;0;0 1.63 True ENSG00000155511 ENSG00000155511 HGNC:4571 GRIA2 gene GRIA2 Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental disorder with language impairment and behavioral abnormalities, MIM# 618917 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 PMID: 31300657 False 3 100;0;0 1.63 True ENSG00000120251 ENSG00000120251 HGNC:4572 GRIA3 gene GRIA3 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Intellectual developmental disorder, X-linked, syndromic, Wu type (MIM#300699) Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 32977175;17989220;38038360 False 3 100;0;0 1.63 True ENSG00000125675 ENSG00000125675 HGNC:4573 GRIA4 gene GRIA4 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental disorder with or without seizures and gait abnormalities MIM#617864 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 35518358;29220673 False 3 100;0;0 1.63 True ENSG00000152578 ENSG00000152578 HGNC:4574 GRID2 gene GRID2 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Spinocerebellar ataxia, autosomal recessive 18 MIM#616204 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 32622959;32170608 False 3 100;0;0 1.63 True ENSG00000152208 ENSG00000152208 HGNC:4576 GRIK2 gene GRIK2 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Mental retardation, autosomal recessive, 6 MIM# 611092;Neurodevelopmental disorder with impaired language and ataxia and with or without seizures, MIM# 619580 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 34375587;17847003;25039795 False 3 100;0;0 1.63 True ENSG00000164418 ENSG00000164418 HGNC:4580 GRIN1 gene GRIN1 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Developmental and epileptic encephalopathy 101 , MIM#619814;Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant, MIM# 614254;Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive, MIM# 617820 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 29365063;27164704;27164704;28051072;34611970 False 3 100;0;0 1.63 True ENSG00000176884 ENSG00000176884 HGNC:4584 GRIN2A gene GRIN2A Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Epilepsy, focal, with speech disorder and with or without mental retardation, MIM# 245570 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 30544257;35983985 False 3 100;0;0 1.63 True Other ENSG00000183454 ENSG00000183454 HGNC:4585 GRIN2B gene GRIN2B Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Mental retardation, autosomal dominant 6, MIM# 613970;Epileptic encephalopathy, early infantile, 27, MIM# 616139 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 28377535 False 3 100;0;0 1.63 True ENSG00000273079 ENSG00000273079 HGNC:4586 GRIN2D gene GRIN2D Expert list;Expert Review Green Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Epileptic encephalopathy, early infantile, 46, MIM# 617162;intellectual disability Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 27616483;30280376 False 3 100;0;0 1.63 True Other ENSG00000105464 ENSG00000105464 HGNC:4588 GRM1 gene GRM1 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal autosomal recessive spinocerebellar ataxia 13 MONDO:0013905 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 26308914;22901947;31319223;36675067 False 3 50;50;0 1.63 True ENSG00000152822 ENSG00000152822 HGNC:4593 GRM7 gene GRM7 Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Epilepsy, microcephaly, developmental delay;neurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalities (NEDSHBA), MIM#618922 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 32286009;32248644 False 3 100;0;0 1.63 True ENSG00000196277 ENSG00000196277 HGNC:4599 GSS gene GSS Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Glutathione synthetase deficiency, MIM# 266130 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 3 100;0;0 1.63 True ENSG00000100983 ENSG00000100983 HGNC:4624 GTF2H5 gene GTF2H5 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Trichothiodystrophy 3, photosensitive MIM#616395 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 30359777;24986372 False 3 50;50;0 1.63 True ENSG00000272047 ENSG00000272047 HGNC:21157 GTF3C3 gene GTF3C3 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder MONDO:0700092, GTF3C3-related Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 28940097;28097321;30552426 False 3 100;0;0 1.63 True ENSG00000119041 ENSG00000119041 HGNC:4666 GTF3C5 gene GTF3C5 Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal neurodevelopmental disorder MONDO:0700092, GTF3C5-related Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 38520561;35503477 False 3 100;0;0 1.63 True ENSG00000148308 ENSG00000148308 HGNC:4668 GTPBP1 gene GTPBP1 Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with characteristic facial and ectodermal features and tetraparesis 1, MIM# 620888 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 38118446 False 3 100;0;0 1.63 True ENSG00000100226 ENSG00000100226 HGNC:4669 GTPBP2 gene GTPBP2 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Jaberi-Elahi syndrome, MIM#617988 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 26675814;29449720;30790272 False 3 100;0;0 1.63 True ENSG00000172432 ENSG00000172432 HGNC:4670 GTPBP3 gene GTPBP3 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 23, MIM#616198 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 34276756;25434004 False 3 100;0;0 1.63 True ENSG00000130299 ENSG00000130299 HGNC:14880 GUSB gene GUSB Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mucopolysaccharidosis VII, MIM# 253220;MONDO:0009662 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 3 100;0;0 1.63 True ENSG00000169919 ENSG00000169919 HGNC:4696 H3F3A gene H3F3A Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Intellectual disability;regression;seizures Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 33268356 False 3 100;0;0 1.63 True ENSG00000163041 ENSG00000163041 HGNC:4764 H3F3B gene H3F3B Expert Review Green;Genetic Health Queensland;Victorian Clinical Genetics Services Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Intellectual disability;regression;seizures Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 33268356 False 3 100;0;0 1.63 True ENSG00000132475 ENSG00000132475 HGNC:4765 HACE1 gene HACE1 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia and psychomotor retardation with or without seizures, 616756;MONDO:0014764 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 26424145;26437029;31321300 False 3 100;0;0 1.63 True ENSG00000085382 ENSG00000085382 HGNC:21033 HADHA gene HADHA Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal long chain 3-hydroxyacyl-CoA dehydrogenase deficiency MONDO:0012173 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 36063482 False 3 0;100;0 1.63 True ENSG00000084754 ENSG00000084754 HGNC:4801 HADHB gene HADHB Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Trifunctional protein deficiency, MIM#609015 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 3 100;0;0 1.63 True ENSG00000138029 ENSG00000138029 HGNC:4803 HCCS gene HCCS Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) linear skin defects with multiple congenital anomalies 1 (MONDO:0024552) Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 18950397 False 3 50;50;0 1.63 True ENSG00000004961 ENSG00000004961 HGNC:4837 HCFC1 gene HCFC1 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Mental retardation, X-linked 3 (methylmalonic acidaemia and homocysteinaemia, cblX type) MIM# 309541 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 34164576;24011988 False 3 100;0;0 1.63 True ENSG00000172534 ENSG00000172534 HGNC:4839 HCN1 gene HCN1 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Developmental and epileptic encephalopathy 24, MIM# 615871;Generalized epilepsy with febrile seizures plus, type 10, MIM# 618482 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 24747641;30351409;30351409 False 3 100;0;0 1.63 True ENSG00000164588 ENSG00000164588 HGNC:4845 HDAC3 gene HDAC3 Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental disorder, MONDO:0700092, HDAC3-related Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 39047730 False 3 100;0;0 1.63 True ENSG00000171720 ENSG00000171720 HGNC:4854 HDAC4 gene HDAC4 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Brachydactyly mental retardation syndrome;Brachydactyly without intellectual disability Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 24715439;20691407;31209962;33537682 False 3 50;50;0 1.63 True ENSG00000068024 ENSG00000068024 HGNC:14063 HDAC8 gene HDAC8 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Cornelia de Lange syndrome 5, MIM# 300882 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 30614194;24403048 False 3 100;0;0 1.63 True ENSG00000147099 ENSG00000147099 HGNC:13315 HECTD1 gene HECTD1 Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental disorder MONDO:0700092 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 PMID: 39879987 False 3 100;0;0 1.63 True ENSG00000092148 ENSG00000092148 HGNC:20157 HECTD4 gene HECTD4 Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with seizures, spasticity, and complete or partial agenesis of the corpus callosum, MIM# 620250 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 PMID: 36401616 False 3 100;0;0 1.63 True ENSG00000173064 ENSG00000173064 HGNC:26611 HECW2 gene HECW2 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Neurodevelopmental disorder with hypotonia, seizures, and absent language (MIM#617268) Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 29807643;29395664;27334371;27389779 False 3 100;0;0 1.63 True Other ENSG00000138411 ENSG00000138411 HGNC:29853 HEPACAM gene HEPACAM Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Megalencephalic leukoencephalopathy with subcortical cysts 2A MONDO:0013490;Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without intellectual disability MONDO:0013491 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 21419380;24202401;27389245;31372844;21419380;24202401;27322623 False 3 100;0;0 1.63 True ENSG00000165478 ENSG00000165478 HGNC:26361 HERC1 gene HERC1 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Macrocephaly, dysmorphic facies, and psychomotor retardation, MIM# 617011 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 28323226;27108999;26153217;26138117;20041218 False 3 100;0;0 1.63 True ENSG00000103657 ENSG00000103657 HGNC:4867 HERC2 gene HERC2 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mental retardation, autosomal recessive 38, MIM# 615516 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 23065719;23243086;30902390;32571899;27848944;26077850;27759030 False 3 50;50;0 1.63 True ENSG00000128731 ENSG00000128731 HGNC:4868 HESX1 gene HESX1 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal septooptic dysplasia MONDO:0008428, Pituitary hormone deficiency, combined, 5 MONDO:0013099 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 19623216;30888394 False 3 50;50;0 1.63 True ENSG00000163666 ENSG00000163666 HGNC:4877 HEXA gene HEXA Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Tay-Sachs disease MONDO:0010100 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 20301397 False 3 100;0;0 1.63 True ENSG00000213614 ENSG00000213614 HGNC:4878 HEXB gene HEXB Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Sandhoff disease MONDO:0010006 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 35420740 False 3 100;0;0 1.63 True ENSG00000049860 ENSG00000049860 HGNC:4879 HGSNAT gene HGSNAT Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mucopolysaccharidosis type IIIC (Sanfilippo C), MIM# 252930;MONDO:0009657 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 19479962;31228227;20825431;20583299 False 3 100;0;0 1.63 True ENSG00000165102 ENSG00000165102 HGNC:26527 HIBCH gene HIBCH Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal 3-hydroxyisobutyryl-CoA hydrolase deficiency MONDO:0009603;Leigh syndrome MONDO:0009723 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 24299452;30847210;17160907;26163321;26026795;31523596;32022391;24299452;32677093 False 3 100;0;0 1.63 True ENSG00000198130 ENSG00000198130 HGNC:4908 HID1 gene HID1 Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Syndromic infantile encephalopathy;Hypopituitarism Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 33999436 False 3 100;0;0 1.63 True ENSG00000167861 ENSG00000167861 HGNC:15736 HIKESHI gene HIKESHI Expert list;Expert Review Green Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Leukodystrophy, hypomyelinating, 13, MIM# 616881 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 34111619;26545878 False 3 100;0;0 1.63 True ENSG00000149196 ENSG00000149196 HGNC:26938 HIRA gene HIRA Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Neurodevelopmental disorder Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 33417013;28135719;25363760 False 3 100;0;0 1.63 True ENSG00000100084 ENSG00000100084 HGNC:4916 HIST1H1E gene HIST1H1E Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Rahman syndrome, MIM# 617537 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 28475857;33270410;31910894;31400068 False 3 100;0;0 1.63 True ENSG00000168298 ENSG00000168298 HGNC:4718 HIST1H4C gene HIST1H4C Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Tessadori-van Haaften neurodevelopmental syndrome 1 MIM#619758 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 28920961;35202563 False 3 67;33;0 1.63 True ENSG00000197061 ENSG00000197061 HGNC:4787 HIST1H4E gene HIST1H4E Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Tessadori-van Haaften neurodevelopmental syndrome 3, MIM# 619950 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 35202563 False 3 100;0;0 1.63 True - - HGNC:4790 HIST1H4I gene HIST1H4I Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Neurodevelopmental syndrome, MONDO:0700092, HIST1H4I-related Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 PMID: 35202563 False 3 100;0;0 1.63 True ENSG00000198339 ENSG00000276180 HGNC:4793 HIVEP2 gene HIVEP2 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Mental retardation, autosomal dominant 43, MIM# 616977 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 26153216;27003583;16836985;31602191;31207095 False 3 100;0;0 1.63 True ENSG00000010818 ENSG00000010818 HGNC:4921 HK1 gene HK1 Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental disorder with visual defects and brain anomalies, MIM# 618547 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 PMID: 30778173 False 3 100;0;0 1.63 True Other ENSG00000156515 ENSG00000156515 HGNC:4922 HLCS gene HLCS Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal holocarboxylase synthetase deficiency MONDO:0009666 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 18974016;18429047;12124727 False 3 100;0;0 1.63 True ENSG00000159267 ENSG00000159267 HGNC:4976 HMBS gene HMBS Expert Review;Expert Review Green Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Encephalopathy, porphyria-related MIM#620704;Leukoencephalopathy, porphyria-related, MIM#620711" Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 15534187;34089223 False 3 100;0;0 1.63 True ENSG00000256269 ENSG00000256269 HGNC:4982 HMGB1 gene HMGB1 Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Developmental delay and microcephaly, no OMIM # Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 PMID: 34164801 False 3 100;0;0 1.63 True ENSG00000189403 ENSG00000189403 HGNC:4983 HMGCL gene HMGCL Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal 3-hydroxy-3-methylglutaric aciduria MONDO:0009520 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 36771238;35646072 False 3 0;100;0 1.63 True ENSG00000117305 ENSG00000117305 HGNC:5005 HNMT gene HNMT Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mental retardation, autosomal recessive 51, MIM#616739 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 26206890;30744146;33310825;33739554 False 3 100;0;0 1.63 True ENSG00000150540 ENSG00000150540 HGNC:5028 HNRNPC gene HNRNPC Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted intellectual developmental disorder-74, MIM#620688 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 37541189 False 3 100;0;0 1.63 True ENSG00000092199 ENSG00000092199 HGNC:5035 HNRNPD gene HNRNPD Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental disorder Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 33057194;33874999 False 3 50;50;0 1.63 True ENSG00000138668 ENSG00000138668 HGNC:5036 HNRNPH1 gene HNRNPH1 Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental disorder with craniofacial dysmorphism and skeletal defects, MIM# 620083 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 PMID: 32335897;29938792 False 3 100;0;0 1.63 True ENSG00000169045 ENSG00000169045 HGNC:5041 HNRNPH2 gene HNRNPH2 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Intellectual developmental disorder, X-linked, syndromic, Bain type MIM#300986 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 34907471;33728377;31670473;31236915;30887513 False 3 100;0;0 1.63 True ENSG00000126945 ENSG00000126945 HGNC:5042 HNRNPK gene HNRNPK Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome (Au-Kline syndrome) MONDO:0018681 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 https://search.clinicalgenome.org/CCID:005073 False 3 100;0;0 1.63 True ENSG00000165119 ENSG00000165119 HGNC:5044 HNRNPR gene HNRNPR Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental disorder with dysmorphic facies and skeletal and brain abnormalities, MIM# 620073 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 31079900 False 3 100;0;0 1.63 True ENSG00000125944 ENSG00000125944 HGNC:5047 HNRNPU gene HNRNPU Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Developmental and epileptic encephalopathy 54 MIM# 617391 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 28944577;28393272 False 3 100;0;0 1.63 True ENSG00000153187 ENSG00000153187 HGNC:5048 HOXA1 gene HOXA1 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Bosley-Salih-Alorainy syndrome, MIM#601536 and Athabaskan brainstem dysgenesis syndrome, MIM#601536 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 https://search.clinicalgenome.org/CCID:005077 False 3 100;0;0 1.63 True ENSG00000105991 ENSG00000105991 HGNC:5099 HPD gene HPD Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal tyrosinemia type III MONDO:0010162 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 31537781 False 3 50;50;0 1.63 True ENSG00000158104 ENSG00000158104 HGNC:5147 HPDL gene HPDL Expert Review;Expert Review Green Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities (NEDSWMA), MIM#619026;Progressive neurological disorder;Leigh-like syndrome Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 32707086 False 3 100;0;0 1.63 True ENSG00000186603 ENSG00000186603 HGNC:28242 HPRT1 gene HPRT1 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Lesch-Nyhan syndrome MONDO:0010298 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 https://search.clinicalgenome.org/CCID:005082 False 3 100;0;0 1.63 True ENSG00000165704 ENSG00000165704 HGNC:5157 HRAS gene HRAS Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Costello syndrome, MIM# 218040 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 16329078;16372351;16443854 False 3 100;0;0 1.63 True Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000174775 ENSG00000174775 HGNC:5173 HS2ST1 gene HS2ST1 Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Neurofacioskeletal syndrome with or without renal agenesis, MIM#619194;Intellectual disability;dysmorphic features;congenital anomalies Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 33159882 False 3 100;0;0 1.63 True ENSG00000153936 ENSG00000153936 HGNC:5193 HSD17B10 gene HSD17B10 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) HSD10 mitochondrial disease MONDO:0010327 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 22132097;17618155 False 3 100;0;0 1.63 True ENSG00000072506 ENSG00000072506 HGNC:4800 HSD17B4 gene HSD17B4 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal D-bifunctional protein deficiency, AR (MIM#261515);Perrault syndrome 1, AR (MIM#233400) Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 27790638 False 3 100;0;0 1.63 True ENSG00000133835 ENSG00000133835 HGNC:5213 HSPD1 gene HSPD1 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Leukodystrophy, hypomyelinating, 4, MIM# 612233 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 18571143;27405012;32532876;28377887;27405012;11898127;17420924 False 3 50;50;0 1.63 True ENSG00000144381 ENSG00000144381 HGNC:5261 HSPG2 gene HSPG2 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Schwartz-Jampel syndrome, type 1, MIM#255800 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 3 100;0;0 1.63 True ENSG00000142798 ENSG00000142798 HGNC:5273 HTRA2 gene HTRA2 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal 3-methylglutaconic aciduria type 8 MONDO:0044723 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 27208207;27696117;30114719;32445293 False 3 100;0;0 1.63 True ENSG00000115317 ENSG00000115317 HGNC:14348 HUWE1 gene HUWE1 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders 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, Turner type Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 3 100;0;0 1.63 True ENSG00000086758 ENSG00000086758 HGNC:30892 IARS gene IARS Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Growth retardation, impaired intellectual development, hypotonia, and hepatopathy, MIM#617093 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 27426735 False 3 100;0;0 1.63 True ENSG00000196305 ENSG00000196305 HGNC:5330 IBA57 gene IBA57 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Multiple mitochondrial dysfunctions syndrome 3, MIM#615330 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 3 100;0;0 1.63 True ENSG00000181873 ENSG00000181873 HGNC:27302 IDH2 gene IDH2 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted mitochondrial disease MONDO:0044970 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 20847235;35359529 False 3 100;0;0 1.63 True ENSG00000182054 ENSG00000182054 HGNC:5383 IDS gene IDS Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) mucopolysaccharidosis type 2 MONDO:0010674 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 https://search.clinicalgenome.org/CCID:005112 False 3 100;0;0 1.63 True ENSG00000010404 ENSG00000010404 HGNC:5389 IDUA gene IDUA Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal mucopolysaccharidosis type 1 MONDO:0001586 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 20301341 False 3 100;0;0 1.63 True ENSG00000127415 ENSG00000127415 HGNC:5391 IER3IP1 gene IER3IP1 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Microcephaly, epilepsy, and diabetes syndrome, MIM# 614231;Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome, MONDO:0013647 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 21835305;22991235;24138066;28711742 False 3 100;0;0 1.63 True ENSG00000134049 ENSG00000134049 HGNC:18550 IFIH1 gene IFIH1 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted IFIH1-related type 1 interferonopathy MONDO:0700262 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 20301648;25620204 False 3 100;0;0 1.63 True ENSG00000115267 ENSG00000115267 HGNC:18873 IFT172 gene IFT172 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Bardet-Biedl syndrome MONDO:0015229 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 24290075;26763875 False 3 0;100;0 1.63 True ENSG00000138002 ENSG00000138002 HGNC:30391 IFT27 gene IFT27 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Bardet-Biedl syndrome 19, MIM#615996 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 24488770;30761183 False 3 100;0;0 1.63 True ENSG00000100360 ENSG00000100360 HGNC:18626 IFT74 gene IFT74 Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Bardet-Biedl syndrome 20, MIM# 617119;Joubert syndrome 40, MIM# 619582;Spermatogenic failure 58, MIM# 619585 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 27486776;32144365;33531668 False 3 100;0;0 1.63 True ENSG00000096872 ENSG00000096872 HGNC:21424 IGF1 gene IGF1 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Growth retardation with deafness and mental retardation due to IGF1 deficiency, MIM # 608747 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 8857020;15769976;14684690;31539878;28768959;34125705;22832530 False 3 100;0;0 1.63 True ENSG00000017427 ENSG00000017427 HGNC:5464 IGF1R gene IGF1R Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Insulin-like growth factor I, resistance to, MIM# 270450 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 31586944 False 3 100;0;0 1.63 True ENSG00000140443 ENSG00000140443 HGNC:5465 IKBKG gene IKBKG Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Incontinentia pigmenti MONDO:0010631 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 20301645 False 3 100;0;0 1.63 True ENSG00000073009 ENSG00000269335 HGNC:5961 IL1RAPL1 gene IL1RAPL1 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Intellectual developmental disorder, X-linked 21 MIM#300143 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 34452636;27470653;21484992;18801879;18801879 False 3 100;0;0 1.63 True ENSG00000169306 ENSG00000169306 HGNC:5996 IMPDH2 gene IMPDH2 Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental disorder with dystonia Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 PMID: 33098801 False 3 100;0;0 1.63 True ENSG00000178035 ENSG00000178035 HGNC:6053 INPP4A gene INPP4A Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Intellectual disability Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 31978615;31938306;25338135;20011524 False 3 50;50;0 1.63 True ENSG00000040933 ENSG00000040933 HGNC:6074 INPP5E gene INPP5E Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 1, MIM# 213300;MONDO:0008944;Mental retardation, truncal obesity, retinal dystrophy, and micropenis, MIM# 610156;MONDO:0012423 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 19668216;32139166;29230161;29052317;27998989;27401686;19668215 False 3 100;0;0 1.63 True ENSG00000148384 ENSG00000148384 HGNC:21474 INPP5K gene INPP5K Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal congenital muscular dystrophy with cataracts and intellectual disability MONDO:0024607 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 28190456;28190459 False 3 100;0;0 1.63 True ENSG00000132376 ENSG00000132376 HGNC:33882 INTS1 gene INTS1 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies, MIM# 618571 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 28542170;30622326;31428919 False 3 100;0;0 1.63 True ENSG00000164880 ENSG00000164880 HGNC:24555 INTS11 gene INTS11 Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with motor and language delay, ocular defects, and brain abnormalities, MIM# 620428 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 PMID: 37054711 False 3 100;0;0 1.63 True ENSG00000127054 ENSG00000127054 HGNC:26052 INTS13 gene INTS13 Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Oral-facial-digital syndrome, MONDO:0015375, INTS13-related Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 PMID: 36229431 False 3 100;0;0 1.63 True ENSG00000064102 ENSG00000064102 HGNC:20174 IPO8 gene IPO8 Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Vascular aneurysm, immune dysregulation, skeletal anomalies, and skin and joint laxity, MIM# 619472;Loeys-Dietz syndrome-like;cardiovascular, neurologic, skeletal and immunologic abnormalities Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 34010604;33875846;34010605 False 3 100;0;0 1.63 True ENSG00000133704 ENSG00000133704 HGNC:9853 IQSEC1 gene IQSEC1 Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Intellectual developmental disorder with short stature and behavioral abnormalities, MIM# 618687" Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 31607425 False 3 100;0;0 1.63 True ENSG00000144711 ENSG00000144711 HGNC:29112 IQSEC2 gene IQSEC2 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) "Intellectual developmental disorder, X-linked 1 MIM#309530, MONDO:0010656;Severe intellectual disability-progressive postnatal microcephaly- midline stereotypic hand movements syndrome MONDO:0018347" Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 31415821;20473311;30842726;33368194;23674175 False 3 100;0;0 1.63 True ENSG00000124313 ENSG00000124313 HGNC:29059 IREB2 gene IREB2 Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Neurodegeneration, early-onset, with choreoathetoid movements and microcytic anemia, MIM#618451 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 30915432;31243445;11175792;35602653 False 3 100;0;0 1.63 True ENSG00000136381 ENSG00000136381 HGNC:6115 IRF2BPL gene IRF2BPL Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures, MIM#618088 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 30057031 False 3 100;0;0 1.63 True ENSG00000119669 ENSG00000119669 HGNC:14282 IRX5 gene IRX5 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Hamamy syndrome, MIM# 611174 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 22581230;27453922;34899143 False 3 100;0;0 1.63 True ENSG00000176842 ENSG00000176842 HGNC:14361 ISCA1 gene ISCA1 Expert list;Expert Review Green Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Multiple mitochondrial dysfunctions syndrome 5, MIM# 617613" Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 28356563;32092383;31016283;30113620;30105122 False 3 100;0;0 1.63 True ENSG00000135070 ENSG00000135070 HGNC:28660 ISCA2 gene ISCA2 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Multiple mitochondrial dysfunctions syndrome 4, MIM# 616370 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 25539947;29297947;29122497;29359243;31279336;31106229 False 3 100;0;0 1.63 True ENSG00000165898 ENSG00000165898 HGNC:19857 ISPD gene ISPD Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7, MIM#614643 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 23288328 False 3 100;0;0 1.63 True ENSG00000214960 ENSG00000214960 HGNC:37276 ITFG2 gene ITFG2 Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental abnormality;Intellectual disability;Developmental regression;Ataxia Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 28397838;33083013 False 3 33;67;0 1.63 True ENSG00000111203 ENSG00000111203 HGNC:30879 ITPA gene ITPA Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Developmental and epileptic encephalopathy 35, MIM# 616647 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 26224535;19498443;35234647;35098521 False 3 100;0;0 1.63 True ENSG00000125877 ENSG00000125877 HGNC:6176 ITPR1 gene ITPR1 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted aniridia-cerebellar ataxia-intellectual disability syndrome MONDO:0008795;spinocerebellar ataxia type 29 MONDO:0007298 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 27108797;27108798;15623688;22986007;28488678 False 3 100;0;0 1.63 True ENSG00000150995 ENSG00000150995 HGNC:6180 ITSN1 gene ITSN1 Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted neurodevelopmental disorder MONDO:0700092 ITSN1-related Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 PMID: 34707297 False 3 0;0;0 1.63 True ENSG00000205726 ENSG00000205726 HGNC:6183 IVD gene IVD Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal isovaleric acidaemia MONDO:0009475 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 26018748 False 3 100;0;0 1.63 True ENSG00000128928 ENSG00000128928 HGNC:6186 JAM3 gene JAM3 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Hemorrhagic destruction of the brain, subependymal calcification, and cataracts, MIM# 613730 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 23255084;21109224 False 3 100;0;0 1.63 True ENSG00000166086 ENSG00000166086 HGNC:15532 JARID2 gene JARID2 Expert Review;Expert Review Green Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Developmental delay with variable intellectual disability and dysmorphic facies (DIDDF), MIM#620098 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 23294540;33077894 False 3 100;0;0 1.63 True ENSG00000008083 ENSG00000008083 HGNC:6196 JMJD1C gene JMJD1C Expert Review;Expert Review Green Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Intellectual disability (MONDO#0001071), JMJD1C-related Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 26181491;32996679 False 3 100;0;0 1.63 True ENSG00000171988 ENSG00000171988 HGNC:12313 KANSL1 gene KANSL1 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Koolen-De Vries syndrome (MIM#610443) Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 22544363 False 3 100;0;0 1.63 True ENSG00000120071 ENSG00000120071 HGNC:24565 KARS gene KARS Expert list;Expert Review Green Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Leukoencephalopathy with or without deafness (LEPID), MIM#619147;Combined mitochondrial oxidative phosphorylation deficiency;epilepsy;intellectual disability;microcephaly Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 26741492;31618474;28887846;25330800;29615062;30252186;28496994 False 3 100;0;0 1.63 True ENSG00000065427 ENSG00000065427 HGNC:6215 KAT5 gene KAT5 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental disorder with dysmorphic facies, sleep disturbance, and brain abnormalities (NEDFASB), MIM#619103;Severe global developmental delay;Intellectual disability;Seizures;Microcephaly;Behavioral abnormality;Sleep disturbance;Morphological abnormality of the central nervous system;Short stature;Oral cleft;Abnormality of the face Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 32822602 False 3 100;0;0 1.63 True Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000172977 ENSG00000172977 HGNC:5275 KAT6A gene KAT6A Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted syndromic intellectual disability MONDO:0000508 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 https://search.clinicalgenome.org/CCID:005173 False 3 100;0;0 1.63 True ENSG00000083168 ENSG00000083168 HGNC:13013 KAT6B gene KAT6B Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted KAT6B-related multiple congenital anomalies syndrome MONDO:0036042 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 https://search.clinicalgenome.org/CCID:005174 False 3 100;0;0 1.63 True ENSG00000156650 ENSG00000156650 HGNC:17582 KAT8 gene KAT8 Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Intellectual disability;seizures;autism;dysmorphic features;Li-Ghorbani-Weisz syndrome, MIM#618974 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 31794431 False 3 100;0;0 1.63 True ENSG00000103510 ENSG00000103510 HGNC:17933 KATNB1 gene KATNB1 Expert list;Expert Review Green Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Lissencephaly 6, with microcephaly, MIM# 616212" Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 25521378;25521379;26640080 False 3 100;0;0 1.63 True ENSG00000140854 ENSG00000140854 HGNC:6217 KBTBD2 gene KBTBD2 Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal neurodevelopmental disorder MONDO:0700092, KBTBD2-related Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 39313616 False 3 100;0;0 1.63 True ENSG00000170852 ENSG00000170852 HGNC:21751 KCNA2 gene KCNA2 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Early infantile encephalopathy 32, MIM#616366 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 29050392 False 3 100;0;0 1.63 True ENSG00000177301 ENSG00000177301 HGNC:6220 KCNA3 gene KCNA3 Expert Review Green;Other Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental disorder, MONDO:0700092, KCNA3-related Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 37964487 False 3 100;0;0 1.63 True ENSG00000177272 ENSG00000177272 HGNC:6221 KCNB1 gene KCNB1 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Epileptic encephalopathy, early infantile, 26, MIM# 616056 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 31600826;31513310 False 3 100;0;0 1.63 True ENSG00000158445 ENSG00000158445 HGNC:6231 KCNB2 gene KCNB2 Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted neurodevelopmental disorder MONDO:0700092, KCNB2-related Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 38503299 False 3 100;0;0 1.63 True ENSG00000182674 ENSG00000182674 HGNC:6232 KCNC1 gene KCNC1 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Intellectual disability;Movement disorders;Epilepsy, progressive myoclonic 7 (MIM#616187) Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 28145425;31353862;25401298 False 3 100;0;0 1.63 True ENSG00000129159 ENSG00000129159 HGNC:6233 KCNC2 gene KCNC2 Expert Review;Expert Review Green Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Developmental and epileptic encephalopathy 103, MIM# 619913 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 32392612;31972370;35314505 False 3 100;0;0 1.63 True ENSG00000166006 ENSG00000166006 HGNC:6234 KCND1 gene KCND1 Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females neurodevelopmental disorder MONDO:0700092, KCND1-related Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 38772379 False 3 100;0;0 1.63 True ENSG00000102057 ENSG00000102057 HGNC:6237 KCND2 gene KCND2 Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental disorder MONDO:0700092;global developmental delay, HP:0001263;seizure, HP:0001250 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 24501278;16934482;29581270;34245260 False 3 100;0;0 1.63 True ENSG00000184408 ENSG00000184408 HGNC:6238 KCND3 gene KCND3 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Spinocerebellar ataxia 19, MIM#607346 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 35021282;32823520;34067185;34361012 False 3 100;0;0 1.63 True ENSG00000171385 ENSG00000171385 HGNC:6239 KCNH1 gene KCNH1 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Temple-Baraitser syndrome, OMIM:611816;Zimmermann-Laband syndrome 1, OMIM:135500;Intellectual disability;Encephalopathy without features of TBS/ZLS Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 33811134 False 3 100;0;0 1.63 True ENSG00000143473 ENSG00000143473 HGNC:6250 KCNH5 gene KCNH5 Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Developmental and epileptic encephalopathy 112, MIM# 620537 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 36307226 False 3 100;0;0 1.63 True Other ENSG00000140015 ENSG00000140015 HGNC:6254 KCNJ10 gene KCNJ10 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal SESAME syndrome, MIM# 612780 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 19289823;19420365;21849804;11466414 False 3 100;0;0 1.63 True ENSG00000177807 ENSG00000177807 HGNC:6256 KCNJ6 gene KCNJ6 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Keppen-Lubinsky syndrome, MIM# 614098;MONDO:0013572 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 25620207;29852244 False 3 100;0;0 1.63 True ENSG00000157542 ENSG00000157542 HGNC:6267 KCNK4 gene KCNK4 Expert list;Expert Review Green Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome 618381" Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 30290154 False 3 100;0;0 1.63 True Other ENSG00000182450 ENSG00000182450 HGNC:6279 KCNK9 gene KCNK9 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed) Birk-Barel syndrome, MIM# 612292;MONDO:0012856 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 28333430;27151206;24980697;18678320;35698242 False 3 100;0;0 1.63 True ENSG00000169427 ENSG00000169427 HGNC:6283 KCNMA1 gene KCNMA1 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Cerebellar atrophy, developmental delay, and seizures, MIM# 617643;Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy, MIM#609446 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 27567911;29545233;26195193;31427379 False 3 100;0;0 1.63 True ENSG00000156113 ENSG00000156113 HGNC:6284 KCNN2 gene KCNN2 Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental disorder with or without variable movement or behavioural abnormalities, MIM#619725 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 33242881 False 3 100;0;0 1.63 True ENSG00000080709 ENSG00000080709 HGNC:6291 KCNN3 gene KCNN3 Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Zimmermann-Laband syndrome 3 MIM#618658 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 PMID: 31155282 False 3 100;0;0 1.63 True ENSG00000143603 ENSG00000143603 HGNC:6292 KCNQ2 gene KCNQ2 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Developmental and epileptic encephalopathy 7, MIM# 613720;Intellectual disability Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 33659638;33754465 False 3 100;0;0 1.63 True ENSG00000075043 ENSG00000075043 HGNC:6296 KCNQ3 gene KCNQ3 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Seizures, benign neonatal, 2, MIM# 121201 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 33337327;25524373;24851285 False 3 100;0;0 1.63 True ENSG00000184156 ENSG00000184156 HGNC:6297 KCNQ5 gene KCNQ5 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Mental retardation, autosomal dominant 46, MIM# 617601 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 28669405;30359776 False 3 100;0;0 1.63 True ENSG00000185760 ENSG00000185760 HGNC:6299 KCNT1 gene KCNT1 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Developmental and epileptic encephalopathy MIM#614959;childhood-onset epilepsy syndrome MONDO:0020072 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 23086397;24029078 False 3 100;0;0 1.63 True ENSG00000107147 ENSG00000107147 HGNC:18865 KCNT2 gene KCNT2 Expert list;Expert Review Green Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Epileptic encephalopathy, early infantile 57, 617771 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 29069600;29740868 False 3 100;0;0 1.63 True Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000162687 ENSG00000162687 HGNC:18866 KCTD3 gene KCTD3 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Epilepsy;Intellectual disability;Posterior fossa abnormalities Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 29406573 False 3 100;0;0 1.63 True ENSG00000136636 ENSG00000136636 HGNC:21305 KCTD7 gene KCTD7 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal progressive myoclonus epilepsy MONDO:0020074;Epilepsy, progressive myoclonic 3, with or without intracellular inclusions (MIM#611726) Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 30295347;31197948 False 3 100;0;0 1.63 True ENSG00000243335 ENSG00000243335 HGNC:21957 KDM1A gene KDM1A Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cleft palate, psychomotor retardation, and distinctive facial features 616728 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 26656649;24838796;27094131 False 3 100;0;0 1.63 True ENSG00000004487 ENSG00000004487 HGNC:29079 KDM2A gene KDM2A Expert Review Green;Other Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental disorder, MONDO:0700092, KDM2A-related Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 3 100;0;0 1.63 True ENSG00000173120 ENSG00000173120 HGNC:13606 KDM2B gene KDM2B Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted neurodevelopmental disorder MONDO#0700092, KDM2B-related Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 36322151 False 3 100;0;0 1.63 True ENSG00000089094 ENSG00000089094 HGNC:13610 KDM3B gene KDM3B Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Diets-Jongmans syndrome, MIM# 618846;Intellectual disability;dysmorphic features;short stature Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 PMID: 30929739 False 3 100;0;0 1.63 True ENSG00000120733 ENSG00000120733 HGNC:1337 KDM4B gene KDM4B Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Intellectual developmental disorder, autosomal dominant 65, MIM# 619320;Global developmental delay, intellectual disability and neuroanatomical defects Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 PMID: 33232677 False 3 100;0;0 1.63 True ENSG00000127663 ENSG00000127663 HGNC:29136 KDM5A gene KDM5A Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Neurodevelopmental disorder MONDO:0700092, KDM5A-related;El Hayek-Chahrour neurodevelopmental syndrome, MIM# 620820 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 21937992;33350388 False 3 100;0;0 1.63 True ENSG00000073614 ENSG00000073614 HGNC:9886 KDM5B gene KDM5B Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Mental retardation, autosomal recessive 65 MIM#618109;Neurodevelopmental disorder (MONDO#0700092), KDM5B-related, autosomal dominant Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 29276005;30217758;30409806 False 3 100;0;0 1.63 True ENSG00000117139 ENSG00000117139 HGNC:18039 KDM5C gene KDM5C Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Intellectual developmental disorder, X-linked syndromic, Claes-Jensen type MIM# 300534;MONDO:0010355 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 15586325;32279304 False 3 100;0;0 1.63 True ENSG00000126012 ENSG00000126012 HGNC:11114 KDM6A gene KDM6A Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Kabuki syndrome 2 MONDO:0010465 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 33674768 False 3 100;0;0 1.63 True ENSG00000147050 ENSG00000147050 HGNC:12637 KDM6B gene KDM6B Expert list;Expert Review Green Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Intellectual disability Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 31124279 False 3 100;0;0 1.63 True ENSG00000132510 ENSG00000132510 HGNC:29012 KIAA0556 gene KIAA0556 Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 26, MIM# 616784 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 26714646;27245168 False 3 100;0;0 1.63 True ENSG00000047578 ENSG00000047578 HGNC:29068 KIAA0586 gene KIAA0586 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 23 MIM#616490 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 26096313 False 3 100;0;0 1.63 True ENSG00000100578 ENSG00000100578 HGNC:19960 KIAA1109 gene KIAA1109 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Alkuraya-Kucinskas syndrome, MIM# 617822 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 29290337;30906834 False 3 100;0;0 1.63 True ENSG00000138688 ENSG00000138688 HGNC:26953 KIDINS220 gene KIDINS220 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Spastic paraplegia, intellectual disability, nystagmus, and obesity, MIM# 617296;MONDO:0015007 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 27005418;29667355 False 3 100;0;0 1.63 True ENSG00000134313 ENSG00000134313 HGNC:29508 KIF11 gene KIF11 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Microcephaly with or without chorioretinopathy, lymphoedema, or mental retardation, MIM# 152950;MONDO:0007918 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 24281367;22284827;25115524;25124931;27212378;32730767;31993640;25996076 False 3 100;0;0 1.63 True ENSG00000138160 ENSG00000138160 HGNC:6388 KIF14 gene KIF14 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Microcephaly 20, primary, autosomal recessive, MIM# 617914;Meckel syndrome 12, MIM# 616258 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 28892560;29343805 False 3 100;0;0 1.63 True ENSG00000118193 ENSG00000118193 HGNC:19181 KIF1A gene KIF1A Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Mental retardation, autosomal dominant 9, MIM#614255 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 28970574;22258533;31488895;31512412 False 3 100;0;0 1.63 True Other ENSG00000130294 ENSG00000130294 HGNC:888 KIF1BP gene KIF1BP Expert list;Expert Review Green Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Goldberg-Shprintzen megacolon syndrome 609460" Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 3 100;0;0 1.63 True ENSG00000198954 ENSG00000198954 HGNC:23419 KIF21B gene KIF21B Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Global developmental delay;Intellectual disability;Abnormality of brain morphology;Microcephaly Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 32415109 False 3 100;0;0 1.63 True Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000116852 ENSG00000116852 HGNC:29442 KIF26A gene KIF26A Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Cortical dysplasia, complex, with other brain malformations 11, MIM# 620156 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 PMID: 36228617 False 3 100;0;0 1.63 True ENSG00000066735 ENSG00000066735 HGNC:20226 KIF2A gene KIF2A Expert list;Expert Review Green Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cortical dysplasia, complex, with other brain malformations 3, 615411 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 23603762;21594994;27747449;27896282 False 3 100;0;0 1.63 True ENSG00000068796 ENSG00000068796 HGNC:6318 KIF4A gene KIF4A Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Intellectual developmental disorder, X-linked 100 MIM#300923 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 24812067;34346154 False 3 100;0;0 1.63 True ENSG00000090889 ENSG00000090889 HGNC:13339 KIF5C gene KIF5C Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cortical dysplasia, complex, with other brain malformations 2, MIM# 615282 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 23603762;23033978;32562872 False 3 100;0;0 1.63 True ENSG00000168280 ENSG00000168280 HGNC:6325 KIF7 gene KIF7 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal acrocallosal syndrome MONDO:0008708;KIF7-related ciliopathy MONDO:0800463;Joubert syndrome 12 MIM#200990 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 20301500 False 3 100;0;0 1.63 True ENSG00000166813 ENSG00000166813 HGNC:30497 KLF7 gene KLF7 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Intellectual disability Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 29251763 False 3 100;0;0 1.63 True ENSG00000118263 ENSG00000118263 HGNC:6350 KLHL20 gene KLHL20 Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental disorder (MONDO:0700092), KLHL20-related Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 PMID: 36214804 False 3 100;0;0 1.63 True ENSG00000076321 ENSG00000076321 HGNC:25056 KLHL7 gene KLHL7 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal PERCHING syndrome MONDO:0014890;acrocallosal syndrome MONDO:0008708 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 27392078;30142437;29074562 False 3 100;0;0 1.63 True ENSG00000122550 ENSG00000122550 HGNC:15646 KMT2A gene KMT2A Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Wiedemann-Steiner syndrome, MIM# 605130 AD Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 3 100;0;0 1.63 True ENSG00000118058 ENSG00000118058 HGNC:7132 KMT2B gene KMT2B Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Dystonia 28, childhood-onset 617284;MONDO:0015004;Intellectual developmental disorder, autosomal dominant 68, MIM# 619934 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 33150406 False 3 100;0;0 1.63 True ENSG00000272333 ENSG00000272333 HGNC:15840 KMT2C gene KMT2C Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Kleefstra syndrome 2, MIM#617768 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 3 100;0;0 1.63 True ENSG00000055609 ENSG00000055609 HGNC:13726 KMT2D gene KMT2D Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Kabuki syndrome 1, MIM# 147920;KMT2D-associated syndrome Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 31949313 False 3 100;0;0 1.63 True ENSG00000167548 ENSG00000167548 HGNC:7133 KMT2E gene KMT2E Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted O'Donnell-Luria-Rodan syndrome, MIM# 618512;Intellectual disability;Autism;Seizures Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 31079897 False 3 100;0;0 1.63 True ENSG00000005483 ENSG00000005483 HGNC:18541 KMT5B gene KMT5B Expert list;Expert Review Green Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Mental retardation, autosomal dominant 51, MIM#617788 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 25363768;28191889;29276005 False 3 100;0;0 1.63 True ENSG00000110066 ENSG00000110066 HGNC:24283 KNL1 gene KNL1 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Microcephaly 4, primary, autosomal recessive, MIM# 604321;MONDO:0011437 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 22983954;26626498;27149178;30304678;27784895 False 3 100;0;0 1.63 True ENSG00000137812 ENSG00000137812 HGNC:24054 KPTN gene KPTN Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mental retardation, autosomal recessive 41 (MIM#615637) Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 24239382;32358097;32808430 False 3 100;0;0 1.63 True ENSG00000118162 ENSG00000118162 HGNC:6404 KRAS gene KRAS Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Noonan syndrome 3, MIM# 609942;Cardiofaciocutaneous syndrome 2, MIM# 615278 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 21797849;16474404;16474405;16773572;17056636 False 3 100;0;0 1.63 True Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000133703 ENSG00000133703 HGNC:6407 L1CAM gene L1CAM Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females L1 syndrome MONDO:0017140 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 3 100;0;0 1.63 True ENSG00000198910 ENSG00000198910 HGNC:6470 L2HGDH gene L2HGDH Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal L-2-hydroxyglutaric aciduria, MIM#236792 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 37113859 False 3 100;0;0 1.63 True ENSG00000087299 ENSG00000087299 HGNC:20499 LAMA1 gene LAMA1 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome MONDO:0014419 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 24013853 False 3 100;0;0 1.63 True ENSG00000101680 ENSG00000101680 HGNC:6481 LAMA2 gene LAMA2 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy, congenital, merosin deficient or partially deficient, 607855;Muscular dystrophy, limb-girdle, autosomal recessive 23, MIM#618138;LAMA2-related muscular dystrophy (suggested by PMID: 30055037) Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 30055037 False 3 100;0;0 1.63 True ENSG00000196569 ENSG00000196569 HGNC:6482 LAMB1 gene LAMB1 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Lissencephaly 5, MIM# 615191;Cystic leukoencephalopathy Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 23472759;25925986;29888467;25925986 False 3 100;0;0 1.63 True ENSG00000091136 ENSG00000091136 HGNC:6486 LAMB2 gene LAMB2 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Pierson syndrome, MIM#609049 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 3 100;0;0 1.63 True ENSG00000172037 ENSG00000172037 HGNC:6487 LAMP2 gene LAMP2 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Danon disease, MIM# 300257;MONDO:0010281 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 10972294 False 3 100;0;0 1.63 True ENSG00000005893 ENSG00000005893 HGNC:6501 LARGE1 gene LARGE1 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6, MIM# 613154;Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 6, MIM# 608840 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 12966029;19067344;17436019;21248746;19299310 False 3 100;0;0 1.63 True ENSG00000133424 ENSG00000133424 HGNC:6511 LARP1 gene LARP1 Expert Review Green;Other Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental disorder;MONDO:0700092 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 39182167 False 3 100;0;0 1.63 True ENSG00000155506 ENSG00000155506 HGNC:29531 LARP7 gene LARP7 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Alazami syndrome, MIM# 615071;Microcephalic primordial dwarfism, Alazami type MONDO:0014031 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 22865833;21937992;30006060;33569879 False 3 100;0;0 1.63 True ENSG00000174720 ENSG00000174720 HGNC:24912 LARS gene LARS Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Infantile liver failure syndrome 1, MIM# 615438;Seizures;Intellectual disability;Encephalopathy Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 32699352 False 3 100;0;0 1.63 True ENSG00000133706 ENSG00000133706 HGNC:6512 LARS2 gene LARS2 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Perrault syndrome 4, MIM# 615300;Hydrops, lactic acidosis, and sideroblastic anemia, MIM# 617021 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 29205794;32423379;30737337;26537577;23541342 False 3 100;0;0 1.63 True ENSG00000011376 ENSG00000011376 HGNC:17095 LAS1L gene LAS1L Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Wilson-Turner syndrome, MIM# 309585 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 25644381;26358559;34653234 False 3 0;100;0 1.63 True ENSG00000001497 ENSG00000001497 HGNC:25726 LETM1 gene LETM1 Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Childhood-onset neurodegeneration with multisystem involvement due to mitochondrial dysfunction (CONDMIM), MIM#620089 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 36055214 False 3 100;0;0 1.63 True ENSG00000168924 ENSG00000168924 HGNC:6556 LGI3 gene LGI3 Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder, MONDO:0700092, LGI3-related;Global developmental delay;Intellectual disability;Distal deformities;Diminished reflexes;Facial myokymia;Hyporeflexia/areflexi Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 PMID: 35948005 False 3 100;0;0 1.63 True ENSG00000168481 ENSG00000168481 HGNC:18711 LHX2 gene LHX2 Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental disorder (MONDO: 0700092) Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 PMID: 37057675 False 3 100;0;0 1.63 True ENSG00000106689 ENSG00000106689 HGNC:6594 LIAS gene LIAS Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Hyperglycinemia, lactic acidosis, and seizures, MIM#614462 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 24334290;22152680 False 3 100;0;0 1.63 True ENSG00000121897 ENSG00000121897 HGNC:16429 LIG4 gene LIG4 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal LIG4 syndrome, MIM# 606593 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 16088910;9823897;10911993;15333585;9809069;12023982;11040211;15175260;19451691;17554302 False 3 100;0;0 1.63 True ENSG00000174405 ENSG00000174405 HGNC:6601 LINC01578 gene LINC01578 Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental disorder with dysmorphic facies, absent speech and ambulation, and brain abnormalities, MIM# 621012 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 39442041 False 3 100;0;0 1.63 True ENSG00000272888 ENSG00000272888 HGNC:48626 LINGO4 gene LINGO4 Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Developmental Delay, Intellectual disability, speech disorder Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 PMID: 33098801 False 3 100;0;0 1.63 True ENSG00000213171 ENSG00000213171 HGNC:31814 LINS1 gene LINS1 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Intellectual developmental disorder, autosomal recessive 27, MIM# 614340 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 32802957;34450347;32499722;31922598;28181389 False 3 100;0;0 1.63 True ENSG00000140471 ENSG00000140471 HGNC:30922 LIPT1 gene LIPT1 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Lipoyltransferase 1 deficiency, MIM#616299 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 24341803;24256811;29681092 False 3 100;0;0 1.63 True ENSG00000144182 ENSG00000144182 HGNC:29569 LMBRD1 gene LMBRD1 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Methylmalonic aciduria and homocystinuria, cblF type, MIM# 277380 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 3 100;0;0 1.63 True ENSG00000168216 ENSG00000168216 HGNC:23038 LMBRD2 gene LMBRD2 Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Developmental delay with variable neurologic and brain abnormalities, MIM# 619694;Global developmental delay;Intellectual disability;Microcephaly;Seizures;Abnormality of nervous system morphology;Abnormality of the eye Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 32820033;https://doi.org/10.1101/797787 False 3 50;50;0 1.63 True Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000164187 ENSG00000164187 HGNC:25287 LMNB1 gene LMNB1 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Microcephaly 26, primary, autosomal dominant, MIM# 619179;Global developmental delay, Intellectual disability, Microcephaly, Short stature, Seizures, Abnormality of the corpus callosum, Cortical gyral simplification, Feeding difficulties, Scoliosis;Leukodystrophy, adult-onset, autosomal dominant, MIM#169500 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 32910914;33033404 False 3 50;0;50 1.63 True Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000113368 ENSG00000113368 HGNC:6637 LMNB2 gene LMNB2 Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Microcephaly 27, primary, autosomal dominant, MIM# 619180;Congenital microcephaly;Global developmental delay;Intellectual disability Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 33033404 False 3 100;0;0 1.63 True Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000176619 ENSG00000176619 HGNC:6638 LNPK gene LNPK Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum, MIM# 618090 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 30032983;35599435 False 3 50;50;0 1.63 True ENSG00000144320 ENSG00000144320 HGNC:21610 LONP1 gene LONP1 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal CODAS syndrome, MIM#600373;Mitochondrial cytopathy Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 31636596 False 3 100;0;0 1.63 True ENSG00000196365 ENSG00000196365 HGNC:9479 LRP2 gene LRP2 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Donnai-Barrow syndrome, MIM#222448 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 17632512 False 3 100;0;0 1.63 True ENSG00000081479 ENSG00000081479 HGNC:6694 LRPPRC gene LRPPRC Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex IV deficiency, nuclear type 5, (French-Canadian), MIM#220111 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 21266382;8392290;8392291;26510951 False 3 100;0;0 1.63 True ENSG00000138095 ENSG00000138095 HGNC:15714 LRRC7 gene LRRC7 Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted neurodevelopmental disorder (MONDO:0700092), LRRC7-related Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 39256359 False 3 100;0;0 1.63 True ENSG00000033122 ENSG00000033122 HGNC:18531 LSS gene LSS Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Cataract 44, OMIM #616509;Hypotrichosis 14, OMIM #618275;intellectual disability and alopecia Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 PMID: 30723320 False 3 100;0;0 1.63 True ENSG00000160285 ENSG00000160285 HGNC:6708 LTBP1 gene LTBP1 Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Cutis laxa, autosomal recessive, type IIE MIM#619451 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 33991472 False 3 100;0;0 1.63 True ENSG00000049323 ENSG00000049323 HGNC:6714 LYRM7 gene LYRM7 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex III deficiency, nuclear type 8, MIM#615838 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 3 100;0;0 1.63 True ENSG00000186687 ENSG00000186687 HGNC:28072 LZTFL1 gene LZTFL1 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 3 100;0;0 1.63 True ENSG00000163818 ENSG00000163818 HGNC:6741 LZTR1 gene LZTR1 Expert list;Expert Review Green Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Noonan syndrome 10, MIM#616564;Noonan syndrome 2, MIM#605275 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 3 100;0;0 1.63 True ENSG00000099949 ENSG00000099949 HGNC:6742 MAB21L1 gene MAB21L1 Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Cerebellar, ocular, craniofacial, and genital syndrome MIM#618479" Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 30487245;27103078 False 3 100;0;0 1.63 True ENSG00000180660 ENSG00000180660 HGNC:6757 MAB21L2 gene MAB21L2 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Microphthalmia/coloboma and skeletal dysplasia syndrome, MIM# 615877 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 24906020;25719200;31037784;30375740;30073347;26116559 False 3 100;0;0 1.63 True ENSG00000181541 ENSG00000181541 HGNC:6758 MACF1 gene MACF1 Expert list;Expert Review Green Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Lissencephaly 9 with complex brainstem malformation, MIM# 618325" Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 30471716 False 3 100;0;0 1.63 True Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000127603 ENSG00000127603 HGNC:13664 MADD gene MADD Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal DEEAH syndrome, MIM#619004 (Developmental Delay With Endocrine, Exocrine, Autonomic, and Hematologic Abnormalities);Neurodevelopmental disorder with dysmorphic facies, impaired speech and hypotonia (NEDDISH), MIM# 619005 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 28940097;29302074;32761064 False 3 100;0;0 1.63 True ENSG00000110514 ENSG00000110514 HGNC:6766 MAF gene MAF Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Ayme-Gripp syndrome (MIM#601088) Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 30160832;34643041 False 3 100;0;0 1.63 True ENSG00000178573 ENSG00000178573 HGNC:6776 MAGEL2 gene MAGEL2 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed) Schaaf-Yang syndrome, MIM# 615547 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 24076603;31397880;29599419;30302899 False 3 100;0;0 1.63 True ENSG00000254585 ENSG00000254585 HGNC:6814 MAN1B1 gene MAN1B1 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mental retardation, autosomal recessive 15, MIM#614202 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 3 100;0;0 1.63 True ENSG00000177239 ENSG00000177239 HGNC:6823 MAN2B1 gene MAN2B1 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mannosidosis, alpha-, types I and II, MIM# 248500;MONDO:0009561 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 3 100;0;0 1.63 True ENSG00000104774 ENSG00000104774 HGNC:6826 MAN2C1 gene MAN2C1 Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Congenital disorder of deglycosylation 2, MIM# 619775 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 35045343 False 3 100;0;0 1.63 True ENSG00000140400 ENSG00000140400 HGNC:6827 MANBA gene MANBA Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mannosidosis, beta, MIM# 248510;MONDO:0009562 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 3 100;0;0 1.63 True ENSG00000109323 ENSG00000109323 HGNC:6831 MAOA gene MAOA Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Brunner syndrome, MIM# 300615 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 25807999;24169519 False 3 100;0;0 1.63 True ENSG00000189221 ENSG00000189221 HGNC:6833 MAP1B gene MAP1B Expert Review Green;Genetic Health Queensland;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Intellectual disability;seizures;PVNH;dysmorphic features;Periventricular nodular heterotopia 9, MIM# 618918 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 31317654;30150678;30214071 False 3 100;0;0 1.63 True ENSG00000131711 ENSG00000131711 HGNC:6836 MAP2K1 gene MAP2K1 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cardiofaciocutaneous syndrome 3, MIM# 615279 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 16439621;17551924;18042262;20301365 False 3 100;0;0 1.63 True Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000169032 ENSG00000169032 HGNC:6840 MAP2K2 gene MAP2K2 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cardiofaciocutaneous syndrome 3, MIM# 615279 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 20358587;16439621;18042262 False 3 100;0;0 1.63 True Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000126934 ENSG00000126934 HGNC:6842 MAP4K4 gene MAP4K4 Expert list;Expert Review Green Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted RASopathy, MONDO:0021060, MAP4K4-related Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 37126546 False 3 50;0;50 1.63 True ENSG00000071054 ENSG00000071054 HGNC:6866 MAPK1 gene MAPK1 Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Noonan syndrome 13, MIM#619087;Global developmental delay;Intellectual disability;Behavioral abnormality;Growth delay;Abnormality of the face;Abnormality of the neck;Abnormality of the cardiovascular system;Abnormality of the skin Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 32721402 False 3 100;0;0 1.63 True Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000100030 ENSG00000100030 HGNC:6871 MAPK8IP3 gene MAPK8IP3 Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Neurodevelopmental disorder with or without variable brain abnormalities OMIM# 605431 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 30612693;30945334 False 3 100;0;0 1.63 True ENSG00000138834 ENSG00000138834 HGNC:6884 MAPKAPK5 gene MAPKAPK5 Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Neurocardiofaciodigital syndrome, MIM# 619869 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 PMID: 3344202 False 3 100;0;0 1.63 True ENSG00000089022 ENSG00000089022 HGNC:6889 MAPRE2 gene MAPRE2 Expert list;Expert Review Green Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Symmetric circumferential skin creases, congenital, 2, MIM# 616734 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 26637975 False 3 100;0;0 1.63 True ENSG00000166974 ENSG00000166974 HGNC:6891 MARK2 gene MARK2 Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental disorder MONDO:0700092 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 PMID: 39419027, 39436150 False 3 100;0;0 1.63 True ENSG00000072518 ENSG00000072518 HGNC:3332 MASP1 gene MASP1 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal 3MC syndrome 1, MIM# 257920;MONDO:0009770 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 26789649;21258343;21035106 False 3 100;0;0 1.63 True ENSG00000127241 ENSG00000127241 HGNC:6901 MAST1 gene MAST1 Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations;OMIM #618273 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 PMID: 31721002;30449657 False 3 100;0;0 1.63 True ENSG00000105613 ENSG00000105613 HGNC:19034 MAST3 gene MAST3 Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Developmental and epileptic encephalopathy 108, MIM#620115 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 34185323;35095415 False 3 100;0;0 1.63 True ENSG00000099308 ENSG00000099308 HGNC:19036 MAST4 gene MAST4 Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted neurodevelopmental disorder MONDO:0700092, MAST4-related Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 36910266;33057194 False 3 100;0;0 1.63 True ENSG00000069020 ENSG00000069020 HGNC:19037 MAT1A gene MAT1A Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Hypermethioninemia, persistent, autosomal dominant, due to methionine adenosyltransferase I/III deficiency MIM#250850;Methionine adenosyltransferase deficiency, autosomal recessive MIM#250850;Disorders of the metabolism of sulphur amino acids Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 27604308;7560086 False 3 100;0;0 1.63 True ENSG00000151224 ENSG00000151224 HGNC:6903 MAX gene MAX Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Polydactyly-macrocephaly syndrome, MIM# 620712 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 38141607 False 3 100;0;0 1.63 True ENSG00000125952 ENSG00000125952 HGNC:6913 MBD5 gene MBD5 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Mental retardation, autosomal dominant 1, MIM# 156200;MONDO:0007974 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 18812405;21981781;23708187;22726846;33912662 False 3 100;0;0 1.63 True ENSG00000204406 ENSG00000204406 HGNC:20444 MBOAT7 gene MBOAT7 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Intellectual disability MIM#617188 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 33335874;32645526;32744787;31852446;31282596;30701556 False 3 100;0;0 1.63 True ENSG00000125505 ENSG00000125505 HGNC:15505 MBTPS2 gene MBTPS2 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females IFAP syndrome 1, with or without BRESHECK syndrome MONDO:0100213 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 3 100;0;0 1.63 True ENSG00000012174 ENSG00000012174 HGNC:15455 MCM3AP gene MCM3AP Expert list;Expert Review Green Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development, MIM#618124 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 24123876;28633435;28969388;29982295;32202298 False 3 100;0;0 1.63 True ENSG00000160294 ENSG00000160294 HGNC:6946 MCM6 gene MCM6 Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental disorder, MONDO:0700092, MCM6-related Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 PMID: 37198333 False 3 100;0;0 1.63 True ENSG00000076003 ENSG00000076003 HGNC:6949 MCOLN1 gene MCOLN1 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mucolipidosis IV, MIM# 252650;MONDO:0009653 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 3 100;0;0 1.63 True ENSG00000090674 ENSG00000090674 HGNC:13356 MCPH1 gene MCPH1 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Microcephaly 1, primary, autosomal recessive, MIM# 251200;MONDO:0009617 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 12046007;15199523;16311745;20978018;32294449;30351297;29026105 False 3 100;0;0 1.63 True ENSG00000147316 ENSG00000147316 HGNC:6954 MDH2 gene MDH2 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Developmental and epileptic encephalopathy 51 MIM#617339 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 27989324;34766628 False 3 100;0;0 1.63 True ENSG00000146701 ENSG00000146701 HGNC:6971 MECP2 gene MECP2 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders Other Encephalopathy, neonatal severe 300673 XLR;Mental retardation, X-linked, syndromic 13 300055 XLR;Rett syndrome 312750 XLD Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 20301670 False 3 100;0;0 1.63 True ENSG00000169057 ENSG00000169057 HGNC:6990 MED11 gene MED11 Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Neurodegeneration with developmental delay, early respiratory failure, myoclonic seizures, and brain abnormalities, MIM# 620327 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 36001086 False 3 100;0;0 1.63 True ENSG00000161920 ENSG00000161920 HGNC:32687 MED12 gene MED12 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) MED12-related intellectual disability syndrome MONDO:0100000 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 3 100;0;0 1.63 True ENSG00000184634 ENSG00000184634 HGNC:11957 MED12L gene MED12L Expert list;Expert Review Green Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental disorder, MONDO:0700092, MED12L-related;Intellectual disability;Seizures;Autism Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 31155615 False 3 100;0;0 1.63 True ENSG00000144893 ENSG00000144893 HGNC:16050 MED13 gene MED13 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Intellectual developmental disorder 61, MIM# 618009 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 29740699 False 3 100;0;0 1.63 True ENSG00000108510 ENSG00000108510 HGNC:22474 MED13L gene MED13L Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted syndromic intellectual disability MONDO:0000508 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 28645799;29511999 False 3 100;0;0 1.63 True ENSG00000123066 ENSG00000123066 HGNC:22962 MED16 gene MED16 Expert Review Green;Other Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal complex neurodevelopmental disorder MONDO:0100038 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 3 100;0;0 1.63 True ENSG00000175221 ENSG00000175221 HGNC:17556 MED17 gene MED17 Expert Review Green;Genetic Health Queensland;Victorian Clinical Genetics Services Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Microcephaly, postnatal progressive, with seizures and brain atrophy, MIM#613668 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 30345598 False 3 100;0;0 1.63 True ENSG00000042429 ENSG00000042429 HGNC:2375 MED23 gene MED23 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal syndromic intellectual disability MONDO:0000508 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 21868677;25845469;27311965;27457812;30847200;31164858 False 3 100;0;0 1.63 True ENSG00000112282 ENSG00000112282 HGNC:2372 MED25 gene MED25 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Basel-Vanagait-Smirin-Yosef syndrome, MIM# 616449;Congenital cataract-microcephaly-naevus flammeus syndrome MONDO:0014643 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 25792360;32816121 False 3 100;0;0 1.63 True ENSG00000104973 ENSG00000104973 HGNC:28845 MED27 gene MED27 Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with spasticity, cataracts, and cerebellar hypoplasia, MIM# 619286 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 33443317 False 3 100;0;0 1.63 True ENSG00000160563 ENSG00000160563 HGNC:2377 MEF2C gene MEF2C Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations, MIM# 613443;MONDO:0013266 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 19876902;19471318;19592390;19592390;20513142;34055696;34022131 False 3 100;0;0 1.63 True ENSG00000081189 ENSG00000081189 HGNC:6996 MEGF8 gene MEGF8 Expert list;Expert Review Green Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Carpenter syndrome 2;OMIM #614976 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 3993675 False 3 100;0;0 1.63 True ENSG00000105429 ENSG00000105429 HGNC:3233 MEIS2 gene MEIS2 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cleft palate, cardiac defects, and mental retardation (MIM#600987) Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 33427397;25712757 False 3 100;0;0 1.63 True ENSG00000134138 ENSG00000134138 HGNC:7001 METTL23 gene METTL23 Expert list;Expert Review Green Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mental retardation, autosomal recessive 44;OMIM#615942 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 PubMed: 24501276;24626631 False 3 100;0;0 1.63 True ENSG00000181038 ENSG00000181038 HGNC:26988 METTL5 gene METTL5 Expert list;Expert Review Green Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Intellectual developmental disorder, autosomal recessive 72, MIM# 618665" Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 29302074;31564433 False 3 100;0;0 1.63 True ENSG00000138382 ENSG00000138382 HGNC:25006 MFF gene MFF Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Encephalopathy due to defective mitochondrial and peroxisomal fission 2, MIM# 617086 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 22499341;26783368;32181496 False 3 100;0;0 1.63 True ENSG00000168958 ENSG00000168958 HGNC:24858 MFSD2A gene MFSD2A Expert list;Expert Review Green Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Microcephaly 15, primary, autosomal recessive, MIM# 616486 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 26005865;26005868;24828044 False 3 100;0;0 1.63 True ENSG00000168389 ENSG00000168389 HGNC:25897 MFSD8 gene MFSD8 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Ceroid lipofuscinosis, neuronal, 7, MIM# 610951;MONDO:0012588 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 17564970;19201763 False 3 100;0;0 1.63 True ENSG00000164073 ENSG00000164073 HGNC:28486 MGAT2 gene MGAT2 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type IIa, MIM# 212066;MGAT2-CDG, MONDO:0008908 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 8808595;11228641;22105986;33044030;31420886 False 3 100;0;0 1.63 True ENSG00000168282 ENSG00000168282 HGNC:7045 MICU1 gene MICU1 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Myopathy with extrapyramidal signs, MIM# 615673 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 24336167;29721912;32395406 False 3 100;0;0 1.63 True ENSG00000107745 ENSG00000107745 HGNC:1530 MID1 gene MID1 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) X-linked Opitz G/BBB syndrome MONDO:0010222 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 3 100;0;0 1.63 True ENSG00000101871 ENSG00000101871 HGNC:7095 MIR17HG gene MIR17HG Expert list;Expert Review Green Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Feingold syndrome 2;OMIM #614326 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 PMID: 25391829;21892160 False 3 50;50;0 1.63 True ENSG00000215417 ENSG00000215417 HGNC:23564 MKKS gene MKKS Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal McKusick-Kaufman syndrome, MIM# 236700;Bardet-Biedl syndrome 6, MIM# 605231;Retinitis pigmentosa Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 10973251;10802661;26900326 False 3 100;0;0 1.63 True ENSG00000125863 ENSG00000125863 HGNC:7108 MKS1 gene MKS1 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 28, MIM# 617121;MONDO:0014928;Meckel syndrome 1, MIM# 249000;MONDO:0009571;Bardet-Biedl syndrome 13, MIM# 615990;MONDO:0014441 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 17377820;24886560;19776033;33193692;27570071;27377014;18327255;24608809 False 3 100;0;0 1.63 True ENSG00000011143 ENSG00000011143 HGNC:7121 MLC1 gene MLC1 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Megalencephalic leukoencephalopathy with subcortical cysts (MIM#604004) Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 11254442;18757878;16652334 False 3 100;0;0 1.63 True ENSG00000100427 ENSG00000100427 HGNC:17082 MLYCD gene MLYCD Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Malonyl-CoA decarboxylase deficiency, MIM# 248360 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 12955715 False 3 100;0;0 1.63 True ENSG00000103150 ENSG00000103150 HGNC:7150 MMAA gene MMAA Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Methylmalonic aciduria, vitamin B12-responsive, cblA type, MIM# 251100 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 20301409;37420116 False 3 100;0;0 1.63 True ENSG00000151611 ENSG00000151611 HGNC:18871 MMAB gene MMAB Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Methylmalonic aciduria, vitamin B12-responsive, cblB type, MIM# 251110 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 20301409;37420116 False 3 100;0;0 1.63 True ENSG00000139428 ENSG00000139428 HGNC:19331 MMACHC gene MMACHC Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Methylmalonic aciduria and homocystinuria, cblC type, MIM#277400 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 3 100;0;0 1.63 True ENSG00000132763 ENSG00000132763 HGNC:24525 MMADHC gene MMADHC Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Homocystinuria, cblD type, variant 1 MIM#277410;Methylmalonic aciduria and homocystinuria, cblD type MIM#277410;Methylmalonic aciduria, cblD type, variant 2 MIM#277410;Disorders of cobalamin absorption, transport and metabolism Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 20301409;37420116;27604308;18385497 False 3 100;0;0 1.63 True ENSG00000168288 ENSG00000168288 HGNC:25221 MN1 gene MN1 Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted CEBALID syndrome, MIM#618774;Intellectual disability;dysmophic features;rhombencephalosynapsis Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 31834374;31839203 False 3 100;0;0 1.63 True Other ENSG00000169184 ENSG00000169184 HGNC:7180 MOCS1 gene MOCS1 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Molybdenum cofactor deficiency A, MIM# 252150 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 9921896;12754701;21031595 False 3 100;0;0 1.63 True ENSG00000124615 ENSG00000124615 HGNC:7190 MOCS2 gene MOCS2 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Molybdenum cofactor deficiency B MIM#252160;Disorders of molybdenum cofactor metabolism Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 27604308;10053004 False 3 100;0;0 1.63 True ENSG00000164172 ENSG00000164172 HGNC:7193 MOGS gene MOGS Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type IIb, MIM# 606056 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 31925597;30587846;33058492 False 3 100;0;0 1.63 True ENSG00000115275 ENSG00000115275 HGNC:24862 MORC2 gene MORC2 Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown "Developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy, MIM# 619090;Intellectual disability" Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 32693025 False 3 100;0;0 1.63 True Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000133422 ENSG00000133422 HGNC:23573 MPDU1 gene MPDU1 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type If, MIM# 609180;MPDU1-CDG, MONDO:0012211 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 11733564;11733556;31741824;29721919 False 3 100;0;0 1.63 True ENSG00000129255 ENSG00000129255 HGNC:7207 MPDZ gene MPDZ Expert list;Expert Review Green Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Hydrocephalus, congenital, 2, with or without brain or eye anomalies;OMIM #615219 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 PubMed: 28556411;23240096 False 3 100;0;0 1.63 True ENSG00000107186 ENSG00000107186 HGNC:7208 MPLKIP gene MPLKIP Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Trichothiodystrophy 4, nonphotosensitive, MIM# 234050;MONDO:0021013 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 15645389;16977596 False 3 100;0;0 1.63 True ENSG00000168303 ENSG00000168303 HGNC:16002 MPP5 gene MPP5 Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Global developmental delay;Intellectual disability;Delayed speech and language development;Developmental regression;Behavioral abnormality Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 33073849 False 3 100;0;0 1.63 True ENSG00000072415 ENSG00000072415 HGNC:18669 MPV17 gene MPV17 Expert list;Expert Review Green Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Charcot-Marie-Tooth disease, axonal, type 2EE, OMIM #618400;Mitochondrial DNA depletion syndrome 6 (hepatocerebral type), OMIM #256810 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 PMID: 22593919 False 3 100;0;0 1.63 True ENSG00000115204 ENSG00000115204 HGNC:7224 MRAS gene MRAS Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Noonan syndrome 11 - MIM#618499 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 3 100;0;0 1.63 True ENSG00000158186 ENSG00000158186 HGNC:7227 MRPL49 gene MRPL49 Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial disease, MONDO:0044970, MRPL49-related Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 39417135 False 3 100;0;0 1.63 True ENSG00000149792 ENSG00000149792 HGNC:1176 MRPS22 gene MRPS22 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 5 MIM#611719 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 29566152;17873122;25663021;28752220 False 3 100;0;0 1.63 True ENSG00000175110 ENSG00000175110 HGNC:14508 MRPS34 gene MRPS34 Expert list;Expert Review Green Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Combined oxidative phosphorylation deficiency 32, MIM# 617664" Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 28777931 False 3 100;0;0 1.63 True ENSG00000074071 ENSG00000074071 HGNC:16618 MSL2 gene MSL2 Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Karayol-Borroto-Haghshenas neurodevelopmental syndrome, MIM# 620985 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 31332282;33057194 False 3 50;50;0 1.63 True ENSG00000174579 ENSG00000174579 HGNC:25544 MSL3 gene MSL3 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Basilicata-Akhtar syndrome, OMIM # 301032 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 33173220 False 3 100;0;0 1.63 True ENSG00000005302 ENSG00000005302 HGNC:7370 MSMO1 gene MSMO1 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Microcephaly, congenital cataract, and psoriasiform dermatitis, MIM# 616834;MONDO:0014793 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 27604308;21285510;24144731;33161406;28673550;33161406 False 3 100;0;0 1.63 True ENSG00000052802 ENSG00000052802 HGNC:10545 MTFMT gene MTFMT Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 15, MIM# 614947;Mitochondrial complex I deficiency, nuclear type 27, MIM# 618248 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 21907147;23499752;24461907;22499348 False 3 100;0;0 1.63 True ENSG00000103707 ENSG00000103707 HGNC:29666 MTHFR gene MTHFR Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Homocystinuria due to MTHFR deficiency MIM#236250;Disorders of folate metabolism and transport Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 27604308;7920641 False 3 100;0;0 1.63 True ENSG00000177000 ENSG00000177000 HGNC:7436 MTHFS gene MTHFS Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination, 618367 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 30031689;31844630;22303332 False 3 100;0;0 1.63 True ENSG00000136371 ENSG00000136371 HGNC:7437 MTO1 gene MTO1 Expert list;Expert Review Green Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 10;OMIM #614702 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 PMID: 26061759;29331171;23929671 False 3 100;0;0 1.63 True ENSG00000135297 ENSG00000135297 HGNC:19261 MTOR gene MTOR Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Smith-Kingsmore syndrome, MIM# 616638;Focal cortical dysplasia, type II, somatic, MIM# 607341;Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes, MONDO:0100283 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 28892148;25878179;26018084 False 3 100;0;0 1.63 True Other ENSG00000198793 ENSG00000198793 HGNC:3942 MTR gene MTR Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Homocystinuria-megaloblastic anaemia, cblG complementation type, MIM# 250940 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 8968736;8968737;9683607;12068375 False 3 100;0;0 1.63 True ENSG00000116984 ENSG00000116984 HGNC:7468 MTRR gene MTRR Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Homocystinuria-megaloblastic anaemia, cbl E type, MIM# 236270 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 12555939;15714522 False 3 100;0;0 1.63 True ENSG00000124275 ENSG00000124275 HGNC:7473 MTSS1L gene MTSS1L Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Intellectual developmental disorder with ocular anomalies and distinctive facial features MIM#620086" Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 PMID: 36067766 False 3 100;0;0 1.63 True ENSG00000132613 ENSG00000132613 HGNC:25094 MUT gene MUT Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Methylmalonic aciduria, mut(0) type, MIM# 251000 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 20301409;37420116;1977311;11528502;12948746 False 3 100;0;0 1.63 True ENSG00000146085 ENSG00000146085 HGNC:7526 MVK gene MVK Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Hyper-IgD syndrome (MIM#260920);Mevalonic aciduria (MIM#610377) Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 29047407;26409462 False 3 100;0;0 1.63 True ENSG00000110921 ENSG00000110921 HGNC:7530 MYCBP2 gene MYCBP2 Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental disorder, MONDO:0700092, MYCBP2-related;corpus callosum abnormalities Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 PMID: 36200388 False 3 100;0;0 1.63 True ENSG00000005810 ENSG00000005810 HGNC:23386 MYCN gene MYCN Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Feingold syndrome 1 MIM#164280;Megalencephaly-polydactyly syndrome, MIM# 620748" Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 37710961 False 3 100;0;0 1.63 True ENSG00000134323 ENSG00000134323 HGNC:7559 MYH10 gene MYH10 Expert list;Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted AD complex neurodevelopmental disorder with or without congenital anomalies (MONDO:0100465) Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 24825879;24901346;25356899;22495309;25003005 False 3 100;0;0 1.63 True ENSG00000133026 ENSG00000133026 HGNC:7568 MYO5A gene MYO5A Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Griscelli syndrome, type 1 MIM#214450 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 32275080;22711375;25283056 False 3 100;0;0 1.63 True ENSG00000197535 ENSG00000197535 HGNC:7602 MYT1L gene MYT1L Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Mental retardation, autosomal dominant 39, MIM# 616521 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 28859103;32065501 False 3 100;0;0 1.63 True ENSG00000186487 ENSG00000186487 HGNC:7623 NAA10 gene NAA10 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Microphthalmia, syndromic 1, MIM# 309800;Ogden syndrome MIM#300855 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 30842225;34075687;21700266 False 3 100;0;0 1.63 True ENSG00000102030 ENSG00000102030 HGNC:18704 NAA15 gene NAA15 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Intellectual developmental disorder, autosomal dominant 50, with behavioral abnormalities - MIM#617787 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 33103328;29656860;31127942;28191889;33557580;28990276 False 3 100;0;0 1.63 True ENSG00000164134 ENSG00000164134 HGNC:30782 NAA20 gene NAA20 Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Intellectual developmental disorder, autosomal recessive 73, MIM# 619717 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 PMID: 34230638 False 3 100;0;0 1.63 True ENSG00000173418 ENSG00000173418 HGNC:15908 NACC1 gene NACC1 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination - MIM#617393 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 28132692 False 3 100;0;0 1.63 True ENSG00000160877 ENSG00000160877 HGNC:20967 NAE1 gene NAE1 Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with dysmorphic facies and ischiopubic hypoplasia, MIM# 620210 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 36608681 False 3 100;0;0 1.63 True ENSG00000159593 ENSG00000159593 HGNC:621 NAGA gene NAGA Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Kanzaki disease, MIM# 609242;Schindler disease, type I and type II 609241;alpha-N-acetylgalactosaminidase deficiency MONDO:0017779 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 11313741;31468281;15619430;8782044 False 3 100;0;0 1.63 True ENSG00000198951 ENSG00000198951 HGNC:7631 NAGLU gene NAGLU Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mucopolysaccharidosis type IIIB (Sanfilippo B), MIM# 252920 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 8650226 False 3 100;0;0 1.63 True ENSG00000108784 ENSG00000108784 HGNC:7632 NALCN gene NALCN Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Congenital contractures of the limbs and face, hypotonia, and developmental delay, MIM# 616266;Hypotonia, infantile, with psychomotor retardation and characteristic facies 1, MIM # 615419 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 25683120;30167850;23749988;24075186 False 3 100;0;0 1.63 True ENSG00000102452 ENSG00000102452 HGNC:19082 NANS gene NANS Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Spondyloepimetaphyseal dysplasia, Camera-Genevieve type - MIM#610442 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 8152878;15726110;8723082;27213289;7551156 False 3 100;0;0 1.63 True ENSG00000095380 ENSG00000095380 HGNC:19237 NAPB gene NAPB Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Developmental and epileptic encephalopathy 107 MIM#620033 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 26235277;28097321;33189936 False 3 100;0;0 1.63 True ENSG00000125814 ENSG00000125814 HGNC:15751 NARS gene NARS Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities (NEDMILG), MIM#619091;Neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities (NEDMILEG), MIM#619092;Abnormal muscle tone;Microcephaly;Global developmental delay;Intellectual disability;Seizures;Ataxia;Abnormality of the face;Demyelinating peripheral neuropathy Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 32738225 False 3 100;0;0 1.63 True ENSG00000134440 ENSG00000134440 HGNC:7643 NAV3 gene NAV3 Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder, MONDO:0700092, NAV3-related Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 39708122;38977784 False 3 100;0;0 1.63 True ENSG00000067798 ENSG00000067798 HGNC:15998 NBEA gene NBEA Expert list;Expert Review Green Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Neurodevelopmental disorder with or without early-onset generalized epilepsy, MIM# 619157;Intellectual disability;Seizures" Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 30269351;28554332;12746398;12826745;11450821;3377648;23277425;22109531;23153818 False 3 100;0;0 1.63 True ENSG00000172915 ENSG00000172915 HGNC:7648 NCAPD2 gene NCAPD2 Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal ?Microcephaly 21, primary, autosomal recessive;OMIM #617983 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 PMID: 31056748;27737959;28097321 False 3 0;100;0 1.63 True ENSG00000010292 ENSG00000010292 HGNC:24305 NCDN gene NCDN Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Neurodevelopmental disorder with infantile epileptic spasms (NEDIES), MIM#619373 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 33711248 False 3 100;0;0 1.63 True ENSG00000020129 ENSG00000020129 HGNC:17597 NCKAP1 gene NCKAP1 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental disorder (MONDO#0700092) , NCKAP1-related Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 33157009 False 3 100;0;0 1.63 True ENSG00000061676 ENSG00000061676 HGNC:7666 NDC1 gene NDC1 Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal triple-A syndrome MONDO:0009279 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 39003500;19782045 False 3 100;0;0 1.63 True ENSG00000058804 ENSG00000058804 HGNC:25525 NDE1 gene NDE1 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Lissencephaly 4 (with microcephaly), MIM# 614019;MONDO:0013527;Microhydranencephaly, MIM# 605013;MONDO:0011504 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 21529752;21529751;30637988;15473967 False 3 100;0;0 1.63 True ENSG00000072864 ENSG00000072864 HGNC:17619 NDP gene NDP Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Norrie disease MONDO:0010691 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 3 100;0;0 1.63 True ENSG00000124479 ENSG00000124479 HGNC:7678 NDST1 gene NDST1 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mental retardation, autosomal recessive 46 - MIM#616116 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 25125150;21937992;32878022;28211985 False 3 100;0;0 1.63 True ENSG00000070614 ENSG00000070614 HGNC:7680 NDUFA1 gene NDUFA1 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Mitochondrial complex I deficiency, nuclear type 12 MIM#301020 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 29506883;19185523;17262856;21596602 False 3 100;0;0 1.63 True ENSG00000125356 ENSG00000125356 HGNC:7683 NDUFA2 gene NDUFA2 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 13, MIM#618235 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 18513682;28857146 False 3 100;0;0 1.63 True ENSG00000131495 ENSG00000131495 HGNC:7685 NDUFAF1 gene NDUFAF1 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 11, MIM#618234 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 17557076;21931170;24963768 False 3 100;0;0 1.63 True ENSG00000137806 ENSG00000137806 HGNC:18828 NDUFS1 gene NDUFS1 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 5, MIM# 618226 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 20382551 False 3 100;0;0 1.63 True ENSG00000023228 ENSG00000023228 HGNC:7707 NDUFS4 gene NDUFS4 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 1, 252010;Leigh syndrome, MIM#252010 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 10944442;27079373;19107570;12616398 False 3 100;0;0 1.63 True ENSG00000164258 ENSG00000164258 HGNC:7711 NDUFS7 gene NDUFS7 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 3 (MIM# 618224) Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 22644603 False 3 100;0;0 1.63 True ENSG00000115286 ENSG00000115286 HGNC:7714 NDUFS8 gene NDUFS8 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 2 MIM#618222 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 23430795;9837812;15159508;22499348;20818383;20819849 False 3 100;0;0 1.63 True ENSG00000110717 ENSG00000110717 HGNC:7715 NDUFV1 gene NDUFV1 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 4 MIM#618225 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 34807224 False 3 100;0;0 1.63 True ENSG00000167792 ENSG00000167792 HGNC:7716 NEDD4L gene NEDD4L Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Periventricular nodular heterotopia 7, MIM#617201 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 3 100;0;0 1.63 True ENSG00000049759 ENSG00000049759 HGNC:7728 NEMF gene NEMF Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Intellectual developmental disorder with speech delay and axonal peripheral neuropathy, MIM# 619099;Intellectual disability;neuropathy Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 32934225 False 3 100;0;0 1.63 True ENSG00000165525 ENSG00000165525 HGNC:10663 NEU1 gene NEU1 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Sialidosis, type I and type II, MIM# 256550;MONDO:0009738 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 8985184;9054950;11063730 False 3 100;0;0 1.63 True ENSG00000204386 ENSG00000204386 HGNC:7758 NEUROD2 gene NEUROD2 Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Epileptic encephalopathy, early infantile, 72, MIM# 618374;Intellectual disability Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 33438828;30323019 False 3 100;0;0 1.63 True ENSG00000171532 ENSG00000171532 HGNC:7763 NEUROG1 gene NEUROG1 Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Cranial dysinnervation disorder, congenital, with absent corneal reflex and developmental delay, OMIM:620469 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 23419067;26077850;33439489;36647078 False 3 100;0;0 1.63 True ENSG00000181965 ENSG00000181965 HGNC:7764 NEXMIF gene NEXMIF Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders 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 98, MIM# 300912 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 27358180 False 3 100;0;0 1.63 True ENSG00000050030 ENSG00000050030 HGNC:29433 NF1 gene NF1 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurofibromatosis, type 1 (MIM#162200) Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 23931823;10762507 False 3 100;0;0 1.63 True ENSG00000196712 ENSG00000196712 HGNC:7765 NFASC gene NFASC Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with central and peripheral motor dysfunction;OMIM #618356 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 PMID: 31501903;28940097;30124836;30850329;31608123 False 3 100;0;0 1.63 True ENSG00000163531 ENSG00000163531 HGNC:29866 NFIA gene NFIA Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Brain malformations with or without urinary tract defects - MIM#613735 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 35018717;33973697;32926563 False 3 100;0;0 1.63 True ENSG00000162599 ENSG00000162599 HGNC:7784 NFIB gene NFIB Expert list;Expert Review Green Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Macrocephaly, acquired, with impaired intellectual development, MIM#618286 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 30388402 False 3 100;0;0 1.63 True ENSG00000147862 ENSG00000147862 HGNC:7785 NFIX gene NFIX Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Sotos syndrome 2 (MIM#614753);Marshall-Smith syndrome, MIM# 602535 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 33034087;29897170;30548146;25118028 False 3 100;0;0 1.63 True ENSG00000008441 ENSG00000008441 HGNC:7788 NFU1 gene NFU1 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Multiple mitochondrial dysfunctions syndrome 1, MIM# 605711 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 21944046;22077971;32747156;29441221 False 3 100;0;0 1.63 True ENSG00000169599 ENSG00000169599 HGNC:16287 NGLY1 gene NGLY1 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Congenital disorder of deglycosylation (OMIM 615273) Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 24651605;27388694;32259258 False 3 100;0;0 1.63 True ENSG00000151092 ENSG00000151092 HGNC:17646 NHS gene NHS Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Nance-Horan syndrome - MIM#302350;Cataract 40, X-linked - MIM#302200 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 31755796;25266737 False 3 100;0;0 1.63 True ENSG00000188158 ENSG00000188158 HGNC:7820 NIPBL gene NIPBL Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cornelia de Lange syndrome 1, MIM # 122470 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 16604071;20358602;16236812;17661813 False 3 100;0;0 1.63 True ENSG00000164190 ENSG00000164190 HGNC:28862 NKAP gene NKAP Expert list;Expert Review Green Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Intellectual disability Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 26358559;26350204;31587868 False 3 100;0;0 1.63 True ENSG00000101882 ENSG00000101882 HGNC:29873 NKX2-1 gene NKX2-1 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Choreoathetosis, hypothyroidism, and neonatal respiratory distress MIM#610978 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 10931427;27066577;26839702;26103969;23911641;11854319;24714694 False 3 100;0;0 1.63 True ENSG00000136352 ENSG00000136352 HGNC:11825 NLGN3 gene NLGN3 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females X-linked complex neurodevelopmental disorder MONDO:0100148;{Asperger syndrome susceptibility, X-linked 1} - MIM#300494;{Autism susceptibility, X-linked 1} - MIM#300425 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 28584888;12669065;25167861 False 3 100;0;0 1.63 True ENSG00000196338 ENSG00000196338 HGNC:14289 NLGN4X gene NLGN4X Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Mental retardation, X-linked, MIM# 300495 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 16648374;28263302;12669065;18231125;10071191;29428674;26350204;14963808;23352163 False 3 50;0;50 1.63 True ENSG00000146938 ENSG00000146938 HGNC:14287 NONO gene NONO Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Intellectual developmental disorder, X-linked syndromic 34 - MIM#300967 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 26571461;27329731;27550220 False 3 100;0;0 1.63 True ENSG00000147140 ENSG00000147140 HGNC:7871 NOTCH1 gene NOTCH1 Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Genetic cerebral small vessel disease (MONDO:0018787), NOTCH1-related Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 35947102 False 3 100;0;0 1.63 True Other ENSG00000148400 ENSG00000148400 HGNC:7881 NOTCH3 gene NOTCH3 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal neurodevelopmental disorder MONDO:0700092, NOTCH3-related;Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 1, MIM#125310 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 3 50;0;50 1.63 True ENSG00000074181 ENSG00000074181 HGNC:7883 NOVA2 gene NOVA2 Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Intellectual disability;autism;hypotonia;spasticity;ataxia Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 32197073 False 3 100;0;0 1.63 True Other ENSG00000104967 ENSG00000104967 HGNC:7887 NPC1 gene NPC1 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Niemann-Pick disease, type C1 and type D, MIM# 257220;MONDO:0009757 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 9211849;11333381 False 3 100;0;0 1.63 True ENSG00000141458 ENSG00000141458 HGNC:7897 NPC2 gene NPC2 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Niemann-pick disease, type C2, MIM# 607625;MONDO:0011873 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 11125141;17470133 False 3 100;0;0 1.63 True ENSG00000119655 ENSG00000119655 HGNC:14537 NPHP1 gene NPHP1 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 4, MIM# 609583;Nephronophthisis 1, juvenile, MIM# 256100;Senior-Loken syndrome-1, MIM# 266900 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 15138899;32139166;28347285;8852662;9856524 False 3 100;0;0 1.63 True ENSG00000144061 ENSG00000144061 HGNC:7905 NPHP3 gene NPHP3 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Meckel syndrome 7, MIM# 267010 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 18371931 False 3 100;0;0 1.63 True ENSG00000113971 ENSG00000113971 HGNC:7907 NR2F1 gene NR2F1 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Bosch-Boonstra-Schaaf optic atrophy syndrome, MIM# 615722 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 32275123 False 3 100;0;0 1.63 True ENSG00000175745 ENSG00000175745 HGNC:7975 NR2F2 gene NR2F2 Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Syndromic disease, MONDO:0002254, NR2F2-related Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 29478779;29663647;37500725 False 3 50;50;0 1.63 True ENSG00000185551 ENSG00000185551 HGNC:7976 NR4A2 gene NR4A2 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism, MIM# 619911" Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 31428396;30504930;29770430 False 3 50;50;0 1.63 True ENSG00000153234 ENSG00000153234 HGNC:7981 NRAS gene NRAS Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Noonan syndrome 6, MIM# 613224 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 19966803;26467218;28594414 False 3 100;0;0 1.63 True Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000213281 ENSG00000213281 HGNC:7989 NRCAM gene NRCAM Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with neuromuscular and skeletal abnormalities, MIM# 619833 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 PMID: 35108495 False 3 100;0;0 1.63 True ENSG00000091129 ENSG00000091129 HGNC:7994 NRROS gene NRROS Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal neurodegeneration;intracranial calcification;epilepsy Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 32197075;32100099 False 3 100;0;0 1.63 True ENSG00000174004 ENSG00000174004 HGNC:24613 NRXN1 gene NRXN1 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Pitt-Hopkins-like syndrome 2 - MIM#614325 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 25486015;19896112;21964664;30873608;35101781;22337556;22670139 False 3 100;0;0 1.63 True ENSG00000179915 ENSG00000179915 HGNC:8008 NSD1 gene NSD1 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Sotos syndrome MONDO:0019349 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 3 100;0;0 1.63 True ENSG00000165671 ENSG00000165671 HGNC:14234 NSD2 gene NSD2 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Rauch-Steindl syndrome, MIM# 619695;Microcephaly;intellectual disability;Neurodevelopmental disorder, NSD2-associated, GoF, MONDO:0700092 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 30345613;31171569;36189577 False 3 100;0;0 1.63 True ENSG00000109685 ENSG00000109685 HGNC:12766 NSDHL gene NSDHL Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females CK syndrome (MIM#300831) Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 21129721;15689440;25900314 False 3 100;0;0 1.63 True ENSG00000147383 ENSG00000147383 HGNC:13398 NSRP1 gene NSRP1 Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Epilepsy;Cerebral palsy;microcephaly;Intellectual disability Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 34385670 False 3 50;50;0 1.63 True ENSG00000126653 ENSG00000126653 HGNC:25305 NSUN2 gene NSUN2 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mental retardation, autosomal recessive 5 - MIM#611091 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 22541559;22541562;21063731;22577224;35126837 False 3 100;0;0 1.63 True ENSG00000037474 ENSG00000037474 HGNC:25994 NSUN6 gene NSUN6 Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Intellectual developmental disorder, autosomal recessive 82, MIM# 620779 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 37226891 False 3 67;33;0 1.63 True ENSG00000241058 ENSG00000241058 HGNC:23529 NT5C2 gene NT5C2 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia 45, autosomal recessive, MIM# 613162;MONDO:0013165 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 24482476;32153630;29123918;28884889;28327087 False 3 100;0;0 1.63 True ENSG00000076685 ENSG00000076685 HGNC:8022 NTNG2 gene NTNG2 Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Intellectual disability;autism;dysmorphic features;Neurodevelopmental disorder with behavioral abnormalities, absent speech, and hypotonia, MIM# 618718" Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 31668703;31692205 False 3 100;0;0 1.63 True ENSG00000196358 ENSG00000196358 HGNC:14288 NTRK1 gene NTRK1 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Insensitivity to pain, congenital, with anhidrosis - MIM#256800 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 10233776;19250380;10861667;10982191;20301726;20089052 False 3 100;0;0 1.63 True ENSG00000198400 ENSG00000198400 HGNC:8031 NTRK2 gene NTRK2 Expert list;Expert Review Green Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Obesity, hyperphagia, and developmental delay, MIM# 613886 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 15494731;27884935;29100083 False 3 100;0;0 1.63 True ENSG00000148053 ENSG00000148053 HGNC:8032 NUBPL gene NUBPL Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 21 - MIM#618242 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 20818383;32518176;23553477;31917109;32518176;31787496;30897263;22826544 False 3 100;0;0 1.63 True ENSG00000151413 ENSG00000151413 HGNC:20278 NUDT2 gene NUDT2 Expert list;Expert Review Green Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Muscular hypotonia;Global developmental delay;Intellectual disability;Polyneuropathy Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 27431290;30059600;33058507 False 3 100;0;0 1.63 True ENSG00000164978 ENSG00000164978 HGNC:8049 NUP188 gene NUP188 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Sandestig-Stefanova syndrome, 618804;microcephaly;ID;cataract;structural brain abnormalities;hypoventilation Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 32021605;28726809;32275884 False 3 100;0;0 1.63 True ENSG00000095319 ENSG00000095319 HGNC:17859 NUP214 gene NUP214 Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "{Encephalopathy, acute, infection-induced, susceptibility to, 9}, MIM# 618426;epileptic encephalopathy;developmental regression;microcephaly" Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 31178128;30758658 False 3 100;0;0 1.63 True ENSG00000126883 ENSG00000126883 HGNC:8064 NUS1 gene NUS1 Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Mental retardation, autosomal dominant 55, with seizures, MIM# 617831 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 31656175;29100083 False 3 100;0;0 1.63 True ENSG00000153989 ENSG00000153989 HGNC:21042 OCLN gene OCLN Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Pseudo-TORCH syndrome 1, MIM#251290 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 20727516;32240828;29192239;28386946 False 3 100;0;0 1.63 True ENSG00000197822 ENSG00000197822 HGNC:8104 OCRL gene OCRL Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females oculocerebrorenal syndrome MONDO:0010645 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 3 100;0;0 1.63 True ENSG00000122126 ENSG00000122126 HGNC:8108 ODC1 gene ODC1 Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental disorder with alopecia and brain imaging abnormalities (NEDABIA), MIM#619075 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 30475435;30239107 False 3 100;0;0 1.63 True Other ENSG00000115758 ENSG00000115758 HGNC:8109 OFD1 gene OFD1 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females ciliopathy MONDO:0005308 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 24884629 False 3 100;0;0 1.63 True ENSG00000046651 ENSG00000046651 HGNC:2567 OGDH gene OGDH Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Oxoglutarate dehydrogenase deficiency, MIM# 203740 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 36520152;32383294 False 3 100;0;0 1.63 True ENSG00000105953 ENSG00000105953 HGNC:8124 OGDHL gene OGDHL Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Yoon-Bellen neurodevelopmental syndrome, MIM# 619701;Neurodevelopmental disorder featuring epilepsy, hearing loss and visual impairment Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 PMID: 34800363 False 3 100;0;0 1.63 True ENSG00000197444 ENSG00000197444 HGNC:25590 OGT gene OGT Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Mental retardation, X-linked 106, MIM# 300997 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 28302723;28584052;31296563;31627256;29769320;29606577 False 3 100;0;0 1.63 True ENSG00000147162 ENSG00000147162 HGNC:8127 OPA3 gene OPA3 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal 3-methylglutaconic aciduria, type III (MGA3) (MIM#258501), AR;Optic atrophy 3 with cataract (MIM#165300), AD Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 25159689;31119193;31928268 False 3 100;0;0 1.63 True ENSG00000125741 ENSG00000125741 HGNC:8142 OPHN1 gene OPHN1 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance, MIM#300486 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 20528889;9582072;12807966;16221952 False 3 100;0;0 1.63 True ENSG00000079482 ENSG00000079482 HGNC:8148 OSGEP gene OSGEP Expert list;Expert Review Green Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Galloway-Mowat syndrome 3, MIM# 617729" Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 28805828;28272532 False 3 100;0;0 1.63 True ENSG00000092094 ENSG00000092094 HGNC:18028 OTC gene OTC Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Ornithine transcarbamylase deficiency, MIM#311250 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 3 100;0;0 1.63 True ENSG00000036473 ENSG00000036473 HGNC:8512 OTUD5 gene OTUD5 Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Multiple congenital anomalies-neurodevelopmental syndrome, X-linked, MIM# 301056 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 PMID: 33131077;33523931 False 3 50;0;50 1.63 True ENSG00000068308 ENSG00000068308 HGNC:25402 OTUD6B gene OTUD6B Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies, OMIM #617452 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 28343629;32924626;31147255 False 3 100;0;0 1.63 True ENSG00000155100 ENSG00000155100 HGNC:24281 OTX2 gene OTX2 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Microphthalmia, syndromic 5, MIM# 610125;Pituitary hormone deficiency, combined, 6, MIM# 613986;Retinal dystrophy, early-onset, with or without pituitary dysfunction, MIM# 610125;Otocephaly-dysgnathia complex Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 24167467;25589041;31969185 False 3 100;0;0 1.63 True ENSG00000165588 ENSG00000165588 HGNC:8522 OXR1 gene OXR1 Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Intellectual disability;seizures;cerebellar atrophy Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 31785787 False 3 100;0;0 1.63 True ENSG00000164830 ENSG00000164830 HGNC:15822 P4HTM gene P4HTM Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities;OMIM #618493 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 PMID: 25078763;30940925 False 3 100;0;0 1.63 True ENSG00000178467 ENSG00000178467 HGNC:28858 PABPC1 gene PABPC1 Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Neurodevelopmental disorder, PABPC1-related (MONDO#0700092) Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 PMID: 35511136 False 3 100;0;0 1.63 True ENSG00000070756 ENSG00000070756 HGNC:8554 PACS1 gene PACS1 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Schuurs-Hoeijmakers syndrome (MIM# 615009) Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 26842493;23159249 False 3 100;0;0 1.63 True ENSG00000175115 ENSG00000175115 HGNC:30032 PACS2 gene PACS2 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Epileptic encephalopathy, early infantile, 66, MIM#618067 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 29656858 False 3 100;0;0 1.63 True ENSG00000179364 ENSG00000179364 HGNC:23794 PAFAH1B1 gene PAFAH1B1 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Lissencephaly 1, MIM# 607432;Subcortical laminar heterotopia, MIM# 607432;MONDO:0011830 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 11754098;18285425 False 3 100;0;0 1.63 True ENSG00000007168 ENSG00000007168 HGNC:8574 PAH gene PAH Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Phenylketonuria, MIM#261600 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 3 100;0;0 1.63 True ENSG00000171759 ENSG00000171759 HGNC:8582 PAK1 gene PAK1 Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Intellectual developmental disorder with macrocephaly, seizures, and speech delay;OMIM #618158 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 PMID: 31504246;30290153 False 3 100;0;0 1.63 True ENSG00000149269 ENSG00000149269 HGNC:8590 PAK2 gene PAK2 Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Knobloch 2 syndrome MIM#618458 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 33693784;38894571;38712026 False 3 100;0;0 1.63 True ENSG00000180370 ENSG00000180370 HGNC:8591 PAK3 gene PAK3 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Mental retardation, X-linked 30/47, MIM# 300558;Intellectual disability Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 9731525;10946356;12884430;17853471;18523455;32050918;32005903;31943058;31843706;31678216 False 3 100;0;0 1.63 True ENSG00000077264 ENSG00000077264 HGNC:8592 PAM16 gene PAM16 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Spondylometaphyseal dysplasia, Megarbane-Dagher-Melike type, MIM#613320 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 24786642;27354339 False 3 100;0;0 1.63 True ENSG00000217930 ENSG00000217930 HGNC:29679 PAN2 gene PAN2 Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Syndromic disease MONDO:0002254 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 PMID:35304602;29620724 False 3 100;0;0 1.63 True ENSG00000135473 ENSG00000135473 HGNC:20074 PARN gene PARN Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Dyskeratosis congenita, autosomal recessive 6, MIM# 616353 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 25893599;26342108 False 3 100;0;0 1.63 True ENSG00000140694 ENSG00000140694 HGNC:8609 PARP6 gene PARP6 Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Intellectual disability;Epilepsy;Microcephaly Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 34067418 False 3 100;0;0 1.63 True ENSG00000137817 ENSG00000137817 HGNC:26921 PAX5 gene PAX5 Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Neurodevelopmental disorder MONDO:0700092, PAX5-related;Hypogammaglobulinaemia Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 35094443;31452935;28263302;25418537;8001127;27626380;35947077 False 3 50;50;0 1.63 True ENSG00000196092 ENSG00000196092 HGNC:8619 PAX6 gene PAX6 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Microphthalmia/coloboma 12, OMIM #120200 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 26130484;31700164 False 3 100;0;0 1.63 True ENSG00000007372 ENSG00000007372 HGNC:8620 PAX8 gene PAX8 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hypothyroidism, congenital, due to thyroid dysgenesis or hypoplasia, MIM# 218700 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 33272083;9590296;11232006;15356023;15718293 False 3 100;0;0 1.63 True ENSG00000125618 ENSG00000125618 HGNC:8622 PBX1 gene PBX1 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay, OMIM #617641 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 3 100;0;0 1.63 True ENSG00000185630 ENSG00000185630 HGNC:8632 PC gene PC Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Pyruvate carboxylase deficiency - MIM#266150 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 9585612;12112657 False 3 100;0;0 1.63 True ENSG00000173599 ENSG00000173599 HGNC:8636 PCBP2 gene PCBP2 Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted neurodevelopmental disorder MONDO:0700092, PCBP2-related Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 38965372 False 3 100;0;0 1.63 True ENSG00000197111 ENSG00000197111 HGNC:8648 PCCA gene PCCA Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Propionicacidemia MIM#606054 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 22593918 False 3 100;0;0 1.63 True ENSG00000175198 ENSG00000175198 HGNC:8653 PCCB gene PCCB Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Propionicacidemia MIM#606054 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 22593918 False 3 100;0;0 1.63 True ENSG00000114054 ENSG00000114054 HGNC:8654 PCDH12 gene PCDH12 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Diencephalic-mesencephalic junction dysplasia syndrome 1, MIM#251280 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 27164683;30178464 False 3 100;0;0 1.63 True ENSG00000113555 ENSG00000113555 HGNC:8657 PCDH19 gene PCDH19 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders Other Developmental and epileptic encephalopathy 9 MIM#300088 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 28669061 False 3 100;0;0 1.63 True ENSG00000165194 ENSG00000165194 HGNC:14270 PCDHGC4 gene PCDHGC4 Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with poor growth and skeletal anomalies, MIM# 619880 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 34244665 False 3 100;0;0 1.63 True ENSG00000242419 ENSG00000242419 HGNC:8717 PCGF2 gene PCGF2 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Turnpenny-Fry syndrome, MIM# 618371 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 30343942 False 3 100;0;0 1.63 True ENSG00000056661 ENSG00000277258 HGNC:12929 PCYT2 gene PCYT2 Expert Review;Expert Review Green Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Global developmental delay with regression;spastic para- or tetra paresis;epilepsy;progressive cerebral and cerebellar atrophy Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 31637422 False 3 100;0;0 1.63 True ENSG00000185813 ENSG00000185813 HGNC:8756 PDE10A gene PDE10A Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Dyskinesia, limb and orofacial, infantile-onset, MIM#616921 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 27058446 False 3 100;0;0 1.63 True ENSG00000112541 ENSG00000112541 HGNC:8772 PDE4D gene PDE4D Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Acrodysostosis 2, with or without hormone resistance, MIM# 614613 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 22464250;22464252;23033274;24203977 False 3 100;0;0 1.63 True ENSG00000113448 ENSG00000113448 HGNC:8783 PDE6D gene PDE6D Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 22, MIM#615665 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 24166846;30423442 False 3 100;0;0 1.63 True ENSG00000156973 ENSG00000156973 HGNC:8788 PDGFRB gene PDGFRB Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Kosaki overgrowth syndrome MIM#616592 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 31710779;35221873 False 3 100;0;0 1.63 True ENSG00000113721 ENSG00000113721 HGNC:8804 PDHA1 gene PDHA1 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Pyruvate dehydrogenase E1-alpha deficiency MIM#312170 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 23021068 False 3 100;0;0 1.63 True ENSG00000131828 ENSG00000131828 HGNC:8806 PDHB gene PDHB Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Pyruvate dehydrogenase E1-beta deficiency, MIM#614111 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 15138885;26014431 False 3 100;0;0 1.63 True ENSG00000168291 ENSG00000168291 HGNC:8808 PDHX gene PDHX Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Lacticacidemia due to PDX1 deficiency MIM#245349 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 34138529 False 3 100;0;0 1.63 True ENSG00000110435 ENSG00000110435 HGNC:21350 PDP1 gene PDP1 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Pyruvate dehydrogenase phosphatase deficiency, MIM#608782 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 19184109;15855260;31392110 False 3 100;0;0 1.63 True ENSG00000164951 ENSG00000164951 HGNC:9279 PDSS1 gene PDSS1 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Coenzyme Q10 deficiency, primary, 2 MIM#614651 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 17332895;22494076;33285023 False 3 100;0;0 1.63 True ENSG00000148459 ENSG00000148459 HGNC:17759 PDZD8 gene PDZD8 Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Intellectual developmental disorder with autism and dysmorphic facies, MIM# 620021" Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 35227461 False 3 100;0;0 1.63 True ENSG00000165650 ENSG00000165650 HGNC:26974 PEPD gene PEPD Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Prolidase deficiency MIM#170100 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 26110198;32455636 False 3 100;0;0 1.63 True ENSG00000124299 ENSG00000124299 HGNC:8840 PET100 gene PET100 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex IV deficiency, nuclear type 12, MIM# 619055 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 24462369;25293719;31406627 False 3 100;0;0 1.63 True ENSG00000229833 ENSG00000229833 HGNC:40038 PEX1 gene PEX1 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Heimler syndrome 1 MIM#234580;Peroxisome biogenesis disorder 1A (Zellweger) MIM#214100;Peroxisome biogenesis disorder 1B (NALD/IRD) MIM#601539 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 20301621 False 3 100;0;0 1.63 True ENSG00000127980 ENSG00000127980 HGNC:8850 PEX10 gene PEX10 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Peroxisome biogenesis disorder 6A (Zellweger) MIM#614870;Peroxisome biogenesis disorder 6B MIM#614871 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 20301621 False 3 100;0;0 1.63 True ENSG00000157911 ENSG00000157911 HGNC:8851 PEX11B gene PEX11B Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Peroxisome biogenesis disorder 14B MIM#614920 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 28129423;22581968 False 3 100;0;0 1.63 True ENSG00000131779 ENSG00000131779 HGNC:8853 PEX12 gene PEX12 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Peroxisome biogenesis disorder 3A (Zellweger) MIM#614859;Peroxisome biogenesis disorder 3B MIM#266510 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 20301621 False 3 100;0;0 1.63 True ENSG00000108733 ENSG00000108733 HGNC:8854 PEX13 gene PEX13 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Peroxisome biogenesis disorder 11A (Zellweger) MIM#614883;Peroxisome biogenesis disorder 11B MIM#614885 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 20301621 False 3 100;0;0 1.63 True ENSG00000162928 ENSG00000162928 HGNC:8855 PEX14 gene PEX14 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Peroxisome biogenesis disorder 13A (Zellweger) MIM#614887;peroxisome biogenesis disorder due to PEX14 defect MONDO:0100268 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 37493040;20301621 False 3 100;0;0 1.63 True ENSG00000142655 ENSG00000142655 HGNC:8856 PEX16 gene PEX16 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Peroxisome biogenesis disorder 8A (Zellweger) MIM#614876;Peroxisome biogenesis disorder 8B MIM#614877 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 20301621 False 3 100;0;0 1.63 True ENSG00000121680 ENSG00000121680 HGNC:8857 PEX19 gene PEX19 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Peroxisome biogenesis disorder 12A (Zellweger) MIM#614886 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 10051604;20683989;11883941;28391327 False 3 100;0;0 1.63 True ENSG00000162735 ENSG00000162735 HGNC:9713 PEX2 gene PEX2 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Peroxisome biogenesis disorder 5A (Zellweger) MIM#614866;Peroxisome biogenesis disorder 5B MIM#614867 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 20301621 False 3 100;0;0 1.63 True ENSG00000164751 ENSG00000164751 HGNC:9717 PEX26 gene PEX26 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Peroxisome biogenesis disorder 7A (Zellweger) MIM#614872;Peroxisome biogenesis disorder 7B MIM614873 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 20301621 False 3 100;0;0 1.63 True ENSG00000215193 ENSG00000215193 HGNC:22965 PEX3 gene PEX3 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Peroxisome biogenesis disorder 10A (Zellweger), MIM# 614882;Peroxisome biogenesis disorder 10B , MIM# 617370 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 10942428;10958759;10968777;27557811;33101983;20301621 False 3 100;0;0 1.63 True ENSG00000034693 ENSG00000034693 HGNC:8858 PEX5 gene PEX5 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Peroxisome biogenesis disorder 2A (Zellweger) MIM#214110;Peroxisome biogenesis disorder 2B MIM#202370 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 20301621 False 3 100;0;0 1.63 True ENSG00000139197 ENSG00000139197 HGNC:9719 PEX6 gene PEX6 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Peroxisome biogenesis disorder 4A (Zellweger) MIM#614862;Peroxisome biogenesis disorder 4B MIM#614863 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 29220678;20301621 False 3 100;0;0 1.63 True ENSG00000124587 ENSG00000124587 HGNC:8859 PEX7 gene PEX7 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Peroxisome biogenesis disorder 9B MIM#614879;Rhizomelic chondrodysplasia punctata, type 1 MIM#215100 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 20301447 False 3 100;0;0 1.63 True ENSG00000112357 ENSG00000112357 HGNC:8860 PGAP1 gene PGAP1 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with dysmorphic features, spasticity, and brain abnormalities, MIM# 615802 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 24482476;24784135;25823418;25804403;26050939 False 3 100;0;0 1.63 True ENSG00000197121 ENSG00000197121 HGNC:25712 PGAP2 gene PGAP2 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Hyperphosphatasia with mental retardation syndrome 3, MIM# 614207, MONDO:0013628 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 23561846;23561847;31805394;29119105;27871432 False 3 100;0;0 1.63 True ENSG00000148985 ENSG00000148985 HGNC:17893 PGAP3 gene PGAP3 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Hyperphosphatasia with mental retardation syndrome 4, MIM# 615716, MONDO:0014318 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 24439110;29620724;30345601;30217754 False 3 100;0;0 1.63 True ENSG00000161395 ENSG00000161395 HGNC:23719 PGK1 gene PGK1 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Phosphoglycerate kinase 1 deficiency, MIM# 300653;MONDO:0010392 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 3 100;0;0 1.63 True ENSG00000102144 ENSG00000102144 HGNC:8896 PGM2L1 gene PGM2L1 Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 33979636 False 3 100;0;0 1.63 True ENSG00000165434 ENSG00000165434 HGNC:20898 PGM3 gene PGM3 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Immunodeficiency 23, MIM# 615816;PGM3-CDG, MONDO:0014353 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 30578875;31231132;33098103;30157810;28704707 False 3 100;0;0 1.63 True ENSG00000013375 ENSG00000013375 HGNC:8907 PHACTR1 gene PHACTR1 Expert list;Expert Review Green Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Epileptic encephalopathy, early infantile, 70, MIM# 618298;PHACTR1-associated neurodevelopment disorder Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 30256902;28135719;23033978;27457812 False 3 100;0;0 1.63 True Other ENSG00000112137 ENSG00000112137 HGNC:20990 PHF21A gene PHF21A Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures, MIM# 618725 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 PMID: 31649809;30487643;22770980 False 3 100;0;0 1.63 True ENSG00000135365 ENSG00000135365 HGNC:24156 PHF5A gene PHF5A Expert list;Expert Review Green Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental disorder (MONDO#0700092), PHF5A-related Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 PMID: 37422718 False 3 100;0;0 1.63 True ENSG00000100410 ENSG00000100410 HGNC:18000 PHF6 gene PHF6 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Borjeson-Forssman-Lehmann syndrome, MIM# 301900 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 16912705 False 3 100;0;0 1.63 True ENSG00000156531 ENSG00000156531 HGNC:18145 PHF8 gene PHF8 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Mental retardation syndrome, X-linked, Siderius type, MIM#300263 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 17661819;17594395;16199551 False 3 100;0;0 1.63 True ENSG00000172943 ENSG00000172943 HGNC:20672 PHGDH gene PHGDH Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Neu-Laxova syndrome 1 MIM#256520;Phosphoglycerate dehydrogenase deficiency MIM#601815 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 37347880 False 3 100;0;0 1.63 True ENSG00000092621 ENSG00000092621 HGNC:8923 PHIP gene PHIP Expert list;Expert Review Green Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Chung-Jansen syndrome, MIM#617991 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 29209020;27900362;23033978 False 3 100;0;0 1.63 True ENSG00000146247 ENSG00000146247 HGNC:15673 PI4K2A gene PI4K2A Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with hyperkinetic movements, seizures and structural brain abnormalities, MIM# 620732 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 30564627;35880319;19581584 False 3 100;0;0 1.63 True ENSG00000155252 ENSG00000155252 HGNC:30031 PI4KA gene PI4KA Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental syndrome with hypomyelinating leukodystrophy Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 PMID: 34415322 False 3 100;0;0 1.63 True ENSG00000241973 ENSG00000241973 HGNC:8983 PIBF1 gene PIBF1 Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 33, OMIM #617767 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 26167768;30858804;29695797;33004012 False 3 100;0;0 1.63 True ENSG00000083535 ENSG00000083535 HGNC:23352 PIDD1 gene PIDD1 Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Intellectual developmental disorder, autosomal recessive 75, with neuropsychiatric features and variant lissencephaly, MIM# 619827 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 28397838;29302074;33414379;34163010 False 3 100;0;0 1.63 True ENSG00000177595 ENSG00000177595 HGNC:16491 PIGA gene PIGA Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Multiple congenital anomalies-hypotonia-seizures syndrome 2, MIM# 300868, MONDO:0010466;Neurodevelopmental disorder with epilepsy and haemochromatosis, MIM# 301072 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 22305531;24357517;24706016;26545172;33333793;32694024;34875027 False 3 100;0;0 1.63 True ENSG00000165195 ENSG00000165195 HGNC:8957 PIGB gene PIGB Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Developmental and epileptic encephalopathy 80, MIM# 618580 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 PubMed: 31256876 False 3 100;0;0 1.63 True ENSG00000069943 ENSG00000069943 HGNC:8959 PIGC gene PIGC Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Glycosylphosphatidylinositol biosynthesis defect 16, MIM# 617816 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 27694521;32707268 False 3 100;0;0 1.63 True ENSG00000135845 ENSG00000135845 HGNC:8960 PIGG gene PIGG Expert Review;Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Neurodevelopmental disorder with or without hypotonia, seizures, and cerebellar atrophy MIM#616917" Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 26996948 False 3 100;0;0 1.63 True ENSG00000174227 ENSG00000174227 HGNC:25985 PIGH gene PIGH Expert list;Expert Review Green Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Glycosylphosphatidylinositol biosynthesis defect 17, MIM#618010 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 29573052;29603516 False 3 100;0;0 1.63 True ENSG00000100564 ENSG00000100564 HGNC:8964 PIGK gene PIGK Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with hypotonia and cerebellar atrophy, with or without seizures, MIM# 618879 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 32220290 False 3 100;0;0 1.63 True ENSG00000142892 ENSG00000142892 HGNC:8965 PIGL gene PIGL Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal CHIME syndrome, MIM# 280000, MONDO:0010221 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 22444671;31535386;30023290;29473937;28371479;25706356 False 3 100;0;0 1.63 True ENSG00000108474 ENSG00000108474 HGNC:8966 PIGN gene PIGN Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Multiple congenital anomalies-hypotonia-seizures syndrome 1, MIM# 614080, MONDO:0013563 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 21493957;24253414;26364997;26394714;33193741;32585529;29330547 False 3 100;0;0 1.63 True ENSG00000197563 ENSG00000197563 HGNC:8967 PIGO gene PIGO Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Hyperphosphatasia with mental retardation syndrome 2, MIM# 614749, MONDO:0013882 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 22683086;31698102;28900819;28545593;28337824 False 3 100;0;0 1.63 True ENSG00000165282 ENSG00000165282 HGNC:23215 PIGP gene PIGP Expert list;Expert Review Green Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Epileptic encephalopathy, early infantile, 55, 617599 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 28334793;31139695;32042915 False 3 50;50;0 1.63 True ENSG00000185808 ENSG00000185808 HGNC:3046 PIGQ gene PIGQ Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Epileptic encephalopathy, early infantile, 77 (MIM #618548) Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 32588908;24463883;25558065;31148362 False 3 100;0;0 1.63 True ENSG00000007541 ENSG00000007541 HGNC:14135 PIGS gene PIGS Expert Review;Expert Review Green Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Glycosylphosphatidylinositol biosynthesis defect 18, MIM# 618143" Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 30269814 False 3 100;0;0 1.63 True ENSG00000087111 ENSG00000087111 HGNC:14937 PIGT gene PIGT Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Multiple congenital anomalies-hypotonia-seizures syndrome 3, MIM# 615398, MONDO:0014165 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 30976099;25943031;24906948;24906948;24906948;28728837;28728837;28728837 False 3 100;0;0 1.63 True ENSG00000124155 ENSG00000124155 HGNC:14938 PIGU gene PIGU Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Glycosylphosphatidylinositol biosynthesis defect 21;OMIM #618590 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 PMID: 31353022 False 3 100;0;0 1.63 True ENSG00000101464 ENSG00000101464 HGNC:15791 PIGV gene PIGV Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Hyperphosphatasia with mental retardation syndrome 1, MIM# 239300, MONDO:0009398 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 20802478;22315194;28817240;24129430 False 3 100;0;0 1.63 True ENSG00000060642 ENSG00000060642 HGNC:26031 PIGW gene PIGW Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Glycosylphosphatidylinositol biosynthesis defect 11, MIM# 616025 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 24367057;27626616;30813920;32198969 False 3 100;0;0 1.63 True ENSG00000184886 ENSG00000277161 HGNC:23213 PIK3C2A gene PIK3C2A Expert list;Expert Review Green Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Oculoskeletodental syndrome, 618440 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 31034465 False 3 100;0;0 1.63 True ENSG00000011405 ENSG00000011405 HGNC:8971 PIK3CA gene PIK3CA Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted PIK3CA-related overgrowth spectrum MONDO:1040002 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 23946963 False 3 100;0;0 1.63 True ENSG00000121879 ENSG00000121879 HGNC:8975 PIK3R2 gene PIK3R2 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1, MIM# 603387 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 22729224;23745724;33604570 False 3 100;0;0 1.63 True ENSG00000105647 ENSG00000105647 HGNC:8980 PIP5K1C gene PIP5K1C Expert Review Green;Other Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental disorder and microcephaly, MONDO:0700092, PIP5K1C-related Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 37451268 False 3 100;0;0 1.63 True ENSG00000186111 ENSG00000186111 HGNC:8996 PISD gene PISD Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Intellectual disability;cataracts;retinal degeneration;microcephaly;deafness;short stature;white matter abnormalities;no OMIM number yet. Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 PMID: 31263216;30858161 False 3 100;0;0 1.63 True ENSG00000241878 ENSG00000241878 HGNC:8999 PITRM1 gene PITRM1 Expert list;Expert Review Green Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Spinocerebellar ataxia-30 (SCAR30), MIM#619405;intellectual disability;cognitive decline;psychosis Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 26697887;29764912;29383861 False 3 100;0;0 1.63 True ENSG00000107959 ENSG00000107959 HGNC:17663 PLA2G16 gene PLA2G16 Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Lipodystrophy, familial partial, type 9, MIM# 620683 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 PMID: 37919452 False 3 100;0;0 1.63 True ENSG00000176485 ENSG00000176485 HGNC:17825 PLA2G6 gene PLA2G6 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Infantile neuroaxonal dystrophy 1 MIM#256600;Neurodegeneration with brain iron accumulation 2B MIM#610217 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 20301718 False 3 100;0;0 1.63 True ENSG00000184381 ENSG00000184381 HGNC:9039 PLAA gene PLAA Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies, MIM# 617527 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 28007986;28413018;31322726 False 3 100;0;0 1.63 True ENSG00000137055 ENSG00000137055 HGNC:9043 PLCB1 gene PLCB1 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Epileptic encephalopathy, early infantile, 12 (MIM#613722) Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 24684524;20833646;22690784;26818157 False 3 100;0;0 1.63 True ENSG00000182621 ENSG00000182621 HGNC:15917 PLK1 gene PLK1 Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Epilepsy;microcephaly;intellectual disability Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 33875846 False 3 100;0;0 1.63 True ENSG00000166851 ENSG00000166851 HGNC:9077 PLK4 gene PLK4 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Microcephaly and chorioretinopathy, autosomal recessive, 2, MIM# 616171 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 25344692;25320347;27650967 False 3 100;0;0 1.63 True ENSG00000142731 ENSG00000142731 HGNC:11397 PLP1 gene PLP1 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Pelizeaus-Merzbacher spectrum disorder MONDO:0010714 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 3 100;0;0 1.63 True ENSG00000123560 ENSG00000123560 HGNC:9086 PLPBP gene PLPBP Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Epilepsy, early-onset, vitamin B6-dependent, MIM# 617290 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 27912044;31741821;30668673 False 3 100;0;0 1.63 True ENSG00000147471 ENSG00000147471 HGNC:9457 PLXNA1 gene PLXNA1 Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Dworschak-Punetha neurodevelopmental syndrome, MIM# 619955 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 PMID: 34054129 False 3 100;0;0 1.63 True ENSG00000114554 ENSG00000114554 HGNC:9099 PLXNB2 gene PLXNB2 Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Syndromic disease MONDO:0002254, PLXNB2 -related Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 PMID: 38458752 False 3 100;0;0 1.63 True ENSG00000196576 ENSG00000196576 HGNC:9104 PMM2 gene PMM2 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type Ia MIM#212065 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 20301289 False 3 100;0;0 1.63 True ENSG00000140650 ENSG00000140650 HGNC:9115 PMPCA gene PMPCA Expert list;Expert Review Green Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Spinocerebellar ataxia, autosomal recessive 2, MIM# 213200" Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 25808372;26657514;27148589;30617178 False 3 100;0;0 1.63 True ENSG00000165688 ENSG00000165688 HGNC:18667 PMPCB gene PMPCB Expert Review;Expert Review Green Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Multiple mitochondrial dysfunctions syndrome 6, MIM# 617954" Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 29576218 False 3 100;0;0 1.63 True ENSG00000105819 ENSG00000105819 HGNC:9119 PNKP gene PNKP Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Microcephaly, seizures, and developmental delay, MIM#613402 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 23224214;20118933 False 3 100;0;0 1.63 True ENSG00000039650 ENSG00000039650 HGNC:9154 PNPLA6 gene PNPLA6 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal retinal dystrophy-ataxia-pituitary hormone abnormality-hypogonadism syndrome MONDO:0100155 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 25299038 False 3 100;0;0 1.63 True ENSG00000032444 ENSG00000032444 HGNC:16268 PNPLA8 gene PNPLA8 Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Complex neurodevelopmental disorder, MONDO:0100038, PNPLA8-related Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 PMID: 39082157 False 3 100;0;0 1.63 True ENSG00000135241 ENSG00000135241 HGNC:28900 PNPT1 gene PNPT1 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 13, MIM#614932 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 3 100;0;0 1.63 True ENSG00000138035 ENSG00000138035 HGNC:23166 POGZ gene POGZ Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted White-Sutton syndrome, MIM# 616364;MONDO:0014606 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 33098347;31782611;26942287 False 3 100;0;0 1.63 True ENSG00000143442 ENSG00000143442 HGNC:18801 POLA1 gene POLA1 Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Van Esch-O'Driscoll syndrome OMIM# 301030 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 PMID: 31006512 False 3 100;0;0 1.63 True ENSG00000101868 ENSG00000101868 HGNC:9173 POLG gene POLG Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Mitochondrial DNA depletion syndrome 4A (Alpers type) MIM#203700;Mitochondrial DNA depletion syndrome 4B (MNGIE type) MIM#613662;Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE) MIM#607459;Progressive external ophthalmoplegia, autosomal recessive 1 MIM#258450;Progressive external ophthalmoplegia, autosomal dominant 1, MIM# 157640 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 20301791 False 3 100;0;0 1.63 True ENSG00000140521 ENSG00000140521 HGNC:9179 POLR1A gene POLR1A Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Acrofacial dysostosis, Cincinnati type MIM#616462;Leukodystrophy, hypomyelinating, 27, MIM# 620675 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 PMID: 37075751 False 3 50;50;0 1.63 True ENSG00000068654 ENSG00000068654 HGNC:17264 POLR1C gene POLR1C Expert list;Expert Review Green Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Leukodystrophy, hypomyelinating, 11, MIM# 616494" Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 26151409 False 3 100;0;0 1.63 True ENSG00000171453 ENSG00000171453 HGNC:20194 POLR2A gene POLR2A Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities, MIM# 618603" Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 31353023 False 3 100;0;0 1.63 True Other ENSG00000181222 ENSG00000181222 HGNC:9187 POLR3A gene POLR3A Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal POLR3A-related disorder MONDO:0700276 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 3 100;0;0 1.63 True ENSG00000148606 ENSG00000148606 HGNC:30074 POLR3B gene POLR3B Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal POLR3B-related disorder MONDO:0700277;Charcot-Marie-Tooth disease, demyelinating, type 1I MIM#619742;Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism MIM#614381 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 33417887 False 3 100;0;0 1.63 True ENSG00000013503 ENSG00000013503 HGNC:30348 POLR3K gene POLR3K Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal POLR3-related leukodystrophy MONDO:0700282 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 https://doi.org/10.1155/2024/8807171;30584594 False 3 100;0;0 1.63 True ENSG00000161980 ENSG00000161980 HGNC:14121 POLRMT gene POLRMT Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 55, MIM# 619743;intellectual disability;hypotonia Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 33602924 False 3 100;0;0 1.63 True ENSG00000099821 ENSG00000099821 HGNC:9200 POMGNT1 gene POMGNT1 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal myopathy caused by variation in POMGNT1 MONDO:0700068 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 3 100;0;0 1.63 True ENSG00000085998 ENSG00000085998 HGNC:19139 POMGNT2 gene POMGNT2 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal myopathy caused by variation in POMGNT2 MONDO:0700069 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 3 100;0;0 1.63 True ENSG00000144647 ENSG00000144647 HGNC:25902 POMK gene POMK Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12, MIM#615249 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 3 100;0;0 1.63 True ENSG00000185900 ENSG00000185900 HGNC:26267 POMT1 gene POMT1 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal myopathy caused by variation in POMT1 MONDO:0700070 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 3 100;0;0 1.63 True ENSG00000130714 ENSG00000130714 HGNC:9202 POMT2 gene POMT2 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal myopathy caused by variation in POMT2 MONDO:0700071 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 3 100;0;0 1.63 True ENSG00000009830 ENSG00000009830 HGNC:19743 PORCN gene PORCN Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) focal dermal hypoplasia MONDO:0010592 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 20301712 False 3 100;0;0 1.63 True ENSG00000102312 ENSG00000102312 HGNC:17652 POU3F2 gene POU3F2 Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Autism spectrum disorder, NDD, and adolescent-onset obesity;neurodevelopmental disorder MONDO:0700092, POU3F2-related Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 PMID: 37207645 False 3 100;0;0 1.63 True Other ENSG00000184486 ENSG00000184486 HGNC:9215 POU3F3 gene POU3F3 Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Snijders Blok-Fisher syndrome MIM#618604 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 PMID: 24550763;31303265 False 3 100;0;0 1.63 True ENSG00000198914 ENSG00000198914 HGNC:9216 PPFIA3 gene PPFIA3 Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental disorder, MONDO:0700092, PPFIA3-related Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 38723631 False 3 100;0;0 1.63 True ENSG00000177380 ENSG00000177380 HGNC:9247 PPFIBP1 gene PPFIBP1 Expert Review;Expert Review Green Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with seizures, microcephaly, and brain abnormalities, MIM# 620024 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 35830857 False 3 100;0;0 1.63 True ENSG00000110841 ENSG00000110841 HGNC:9249 PPIL1 gene PPIL1 Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Pontocerebellar hypoplasia, type 14, MIM# 619301;microcephaly;seizures Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 33220177 False 3 100;0;0 1.63 True ENSG00000137168 ENSG00000137168 HGNC:9260 PPM1D gene PPM1D Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Jansen de Vries syndrome (MIM #617450) Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 28343630;31916397;30795918;29758292 False 3 100;0;0 1.63 True ENSG00000170836 ENSG00000170836 HGNC:9277 PPP1CB gene PPP1CB Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Noonan syndrome-like disorder with loose anlagen hair 2, OMIM # 617506 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 32476286;28211982;27264673;27681385;27868344 False 3 100;0;0 1.63 True ENSG00000213639 ENSG00000213639 HGNC:9282 PPP1R12A gene PPP1R12A Expert Review Green;Research Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Intellectual disability;holoprosencephaly;disorder of sex development Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 31883643 False 3 100;0;0 1.63 True ENSG00000058272 ENSG00000058272 HGNC:7618 PPP1R21 gene PPP1R21 Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Hypotonia;intellectual disability;white matter abnormalities Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 30520571 False 3 100;0;0 1.63 True ENSG00000162869 ENSG00000162869 HGNC:30595 PPP1R3F gene PPP1R3F Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Neurodevelopmental Disorder, MONDO:0700092,PPP1R3F-related Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 37531237 False 3 100;0;0 1.63 True ENSG00000049769 ENSG00000049769 HGNC:14944 PPP2CA gene PPP2CA Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental disorder and language delay with or without structural brain abnormalities;OMIM #618354 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 PMID: 30595372 False 3 100;0;0 1.63 True ENSG00000113575 ENSG00000113575 HGNC:9299 PPP2R1A gene PPP2R1A Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Mental retardation, autosomal dominant 36, MIM#616362;Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome, MONDO:0014605 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 26168268;33106617 False 3 100;0;0 1.63 True ENSG00000105568 ENSG00000105568 HGNC:9302 PPP2R5C gene PPP2R5C Expert Review Green;Research Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental disorder, PPP2R5C-related (MONDO:070092);macrocephaly;intellectual disability Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 25972378 False 3 50;50;0 1.63 True ENSG00000078304 ENSG00000078304 HGNC:9311 PPP2R5D gene PPP2R5D Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Houge-Janssens syndrome 1, MIM#616355 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 32074998;26168268 False 3 100;0;0 1.63 True Other ENSG00000112640 ENSG00000112640 HGNC:9312 PPP3CA gene PPP3CA Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development MIM#618265;Developmental and epileptic encephalopathy 91 MIM617711 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 29432562;32593294 False 3 100;0;0 1.63 True ENSG00000138814 ENSG00000138814 HGNC:9314 PPT1 gene PPT1 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Ceroid lipofuscinosis, neuronal, 1 MIM#256730 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 7637805;9425237;9664077 False 3 100;0;0 1.63 True ENSG00000131238 ENSG00000131238 HGNC:9325 PQBP1 gene PQBP1 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Renpenning syndrome, MIM#309500 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 31840929;14634649;20410308 False 3 100;0;0 1.63 True ENSG00000102103 ENSG00000102103 HGNC:9330 PRDM13 gene PRDM13 Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Pontocerebellar hypoplasia, type 17, MIM# 619909;Cerebellar dysfunction, impaired intellectual development, and hypogonadotropic hypogonadism, MIM# 619761 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 34730112;35390279 False 3 67;33;0 1.63 True ENSG00000112238 ENSG00000112238 HGNC:13998 PRKACB gene PRKACB Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Cardioacrofacial dysplasia 2, MIM# 619143;Postaxial hand polydactyly;Postaxial foot polydactyly;Common atrium;Atrioventricular canal defect;Narrow chest;Abnormality of the teeth;Intellectual disability Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 33058759;39095811 False 3 50;50;0 1.63 True ENSG00000142875 ENSG00000142875 HGNC:9381 PRKAR1A gene PRKAR1A Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Acrodysostosis 1, with or without hormone resistance, MIM#101800 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 3 100;0;0 1.63 True ENSG00000108946 ENSG00000108946 HGNC:9388 PRKAR1B gene PRKAR1B Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Marbach-Schaaf neurodevelopmental syndrome MIM#619680;Global developmental delay;Intellectual disability;Autism;Attention deficit hyperactivity disorder;Aggressive behavior;Abnormality of movement;Upslanted palpebral fissure Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 25414040;33057194;33833410 False 3 50;50;0 1.63 True ENSG00000188191 ENSG00000188191 HGNC:9390 PRMT7 gene PRMT7 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Short stature, brachydactyly, intellectual developmental disability, and seizures, MIM# 617157 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 26437029;27718516;30513135 False 3 100;0;0 1.63 True ENSG00000132600 ENSG00000132600 HGNC:25557 PRODH gene PRODH Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Hyperprolinemia, type I MIM#239500 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 17412540;12217952 False 3 100;0;0 1.63 True ENSG00000100033 ENSG00000100033 HGNC:9453 PRPF19 gene PRPF19 Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental disorder (MONDO:0700092), PRPF19-related Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 37962958 False 3 100;0;0 1.63 True ENSG00000110107 ENSG00000110107 HGNC:17896 PRPF8 gene PRPF8 Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental disorder MONDO:0700092, PRPF8-related;Retinitis pigmentosa 13 - MIM#600059 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 35543142 False 3 100;0;0 1.63 True ENSG00000174231 ENSG00000174231 HGNC:17340 PRPS1 gene PRPS1 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) PRPS1 deficiency disorder MONDO:0100061 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 24961627 False 3 100;0;0 1.63 True ENSG00000147224 ENSG00000147224 HGNC:9462 PRR12 gene PRR12 Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neuroocular syndrome, MIM#619539;Intellectual disability;Iris abnormalities;Complex microphthalmia Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 29556724 False 3 100;0;0 1.63 True ENSG00000126464 ENSG00000126464 HGNC:29217 PRUNE1 gene PRUNE1 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies , MIM#617481 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 26539891;28334956;33105479 False 3 100;0;0 1.63 True ENSG00000143363 ENSG00000143363 HGNC:13420 PSAP gene PSAP Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Metachromatic leukodystrophy due to SAP-b deficiency, MIM#249900 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 3 100;0;0 1.63 True ENSG00000197746 ENSG00000197746 HGNC:9498 PSMC3 gene PSMC3 Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal neurodevelopmental disorder, MONDO:0700092, PSMC3-related;Deafness, cataract, impaired intellectual development, and polyneuropathy, MIM#619354 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 32500975;37256937 False 3 50;50;0 1.63 True ENSG00000165916 ENSG00000165916 HGNC:9549 PSMC5 gene PSMC5 Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental disorder (MONDO#0700092), PSMC5-related Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 33057194 False 3 50;50;0 1.63 True ENSG00000087191 ENSG00000087191 HGNC:9552 PSMD11 gene PSMD11 Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental disorder, MONDO:0700092, PSMD11-related Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 38866022;30733659 False 3 100;0;0 1.63 True ENSG00000108671 ENSG00000108671 HGNC:9556 PSMD12 gene PSMD12 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Stankiewicz-Isidor syndrome, MIM# 617516 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 28132691;34906456 False 3 100;0;0 1.63 True ENSG00000197170 ENSG00000197170 HGNC:9557 PSMF1 gene PSMF1 Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Complex neurodevelopmental disorder with motor features, MONDO:0100516, PSMF1-related Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 https://www.medrxiv.org/content/10.1101/2024.06.19.24308302v1 False 3 100;0;0 1.63 True ENSG00000125818 ENSG00000125818 HGNC:9571 PSPH gene PSPH Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Phosphoserine phosphatase deficiency MIM#614023 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 37347880 False 3 100;0;0 1.63 True ENSG00000146733 ENSG00000146733 HGNC:9577 PTCD3 gene PTCD3 Expert Review;Expert Review Green Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency-51, MIM#619057;Intellectual disability;optic atrophy;Leigh-like syndrome Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 30607703;19427859;36450274 False 3 100;0;0 1.63 True ENSG00000132300 ENSG00000132300 HGNC:24717 PTCH1 gene PTCH1 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Holoprosencephaly 7, MIM# 610828 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 3 100;0;0 1.63 True ENSG00000185920 ENSG00000185920 HGNC:9585 PTCHD1 gene PTCHD1 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females non-syndromic X-linked intellectual disability MONDO:0019181 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 3 100;0;0 1.63 True ENSG00000165186 ENSG00000165186 HGNC:26392 PTDSS1 gene PTDSS1 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Lenz-Majewski hyperostotic dwarfism MIM#151050 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 24241535;29341480;31403251 False 3 100;0;0 1.63 True ENSG00000156471 ENSG00000156471 HGNC:9587 PTEN gene PTEN Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cowden syndrome 1 MIM#158350;Macrocephaly/autism syndrome MIM#605309;PTEN hamartoma tumor syndrome MONDO:0017623 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 3 100;0;0 1.63 True ENSG00000171862 ENSG00000171862 HGNC:9588 PTF1A gene PTF1A Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Pancreatic and cerebellar agenesis, MIM# 609069 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 21749365;10507728;15543146;19650412 False 3 100;0;0 1.63 True ENSG00000168267 ENSG00000168267 HGNC:23734 PTPMT1 gene PTPMT1 Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal inborn mitochondrial metabolism disorder MONDO:0004069 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 39279645;37672386 False 3 100;0;0 1.63 True ENSG00000110536 ENSG00000110536 HGNC:26965 PTPN11 gene PTPN11 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Noonan syndrome 1, MIM#163950 AD;LEOPARD syndrome 1, 151100 AD (for reporting use Noonan syndrome with multiple lentigines) Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 11992261;21533187;24935154 False 3 100;0;0 1.63 True Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000179295 ENSG00000179295 HGNC:9644 PTPN23 gene PTPN23 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Intellectual disability;brain abnormalities;seizures;optic atrophy;microcephaly Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 31395947 False 3 100;0;0 1.63 True ENSG00000076201 ENSG00000076201 HGNC:14406 PTPN4 gene PTPN4 Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental disorder, MONDO:0700092, PTPN4-related Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 17953619;25424712;30238967;34527963 False 3 100;0;0 1.63 True ENSG00000088179 ENSG00000088179 HGNC:9656 PTRH2 gene PTRH2 Expert list;Expert Review Green Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Infantile-onset multisystem neurologic, endocrine, and pancreatic disease, MIM# 616263" Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 25574476;28175314;28328138;25558065;27129381;33092935;37239392 False 3 50;50;0 1.63 True ENSG00000141378 ENSG00000141378 HGNC:24265 PTRHD1 gene PTRHD1 Expert list;Expert Review Green Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with early-onset parkinsonism and behavioral abnormalities, MIM# 620747 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 30398675;27134041;27753167;29143421 False 3 100;0;0 1.63 True ENSG00000184924 ENSG00000184924 HGNC:33782 PTS gene PTS Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Hyperphenylalaninaemia, BH4-deficient, A, MIM# 261640 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 3 100;0;0 1.63 True ENSG00000150787 ENSG00000150787 HGNC:9689 PUF60 gene PUF60 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Verheij syndrome, MIM# 615583 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 28327570 False 3 100;0;0 1.63 True ENSG00000179950 ENSG00000179950 HGNC:17042 PUM1 gene PUM1 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental disorder with motor abnormalities, seizures, and facial dysmorphism, MIM# 620719 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 29474920;25768905;30903679;31859446 False 3 100;0;0 1.63 True ENSG00000134644 ENSG00000134644 HGNC:14957 PURA gene PURA Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental disorder with neonatal respiratory insufficiency, hypotonia, and feeding difficulties (OMIM 616158) Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 25439098;25342064;12972605 False 3 100;0;0 1.63 True ENSG00000185129 ENSG00000185129 HGNC:9701 PUS1 gene PUS1 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Myopathy, lactic acidosis, and sideroblastic anaemia 1, MIM# 600462 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 25227147;17056637;15108122;32287105;31641589;28832011 False 3 100;0;0 1.63 True ENSG00000177192 ENSG00000177192 HGNC:15508 PUS3 gene PUS3 Expert list;Expert Review Green Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with microcephaly and gray sclerae, MIM# 617051 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 30308082;28454995;27055666;30697592;31444731 False 3 100;0;0 1.63 True ENSG00000110060 ENSG00000110060 HGNC:25461 PUS7 gene PUS7 Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature;OMIM #618342 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 PMID: 30526862;30778726;31583274 False 3 100;0;0 1.63 True ENSG00000091127 ENSG00000091127 HGNC:26033 PYCR1 gene PYCR1 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Cutis laxa, autosomal recessive, type IIB, MIM# 612940;Cutis laxa, autosomal recessive, type IIIB, MIM# 614438 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 19648921;4076251;22052856;19576563;19648921;9648921;22052856;28294978;27756598 False 3 100;0;0 1.63 True ENSG00000183010 ENSG00000183010 HGNC:9721 PYCR2 gene PYCR2 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Leukodystrophy, hypomyelinating, 10, MIM# 616420 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 25865492;27130255 False 3 100;0;0 1.63 True ENSG00000143811 ENSG00000143811 HGNC:30262 QARS gene QARS Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Microcephaly, progressive, seizures, and cerebral and cerebellar atrophy, MIM# 615760 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 28620870;25471517;25432320;25041233;24656866;32042906 False 3 100;0;0 1.63 True ENSG00000172053 ENSG00000172053 HGNC:9751 QDPR gene QDPR Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Hyperphenylalaninemia, BH4-deficient, C, MIM# 261630 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 11153907 False 3 100;0;0 1.63 True ENSG00000151552 ENSG00000151552 HGNC:9752 QRICH1 gene QRICH1 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Ververi-Brady syndrome, MIM#617982 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 28692176;30281152;33009816 False 3 100;0;0 1.63 True ENSG00000198218 ENSG00000198218 HGNC:24713 RAB11A gene RAB11A Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Intellectual disability;seizures Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 29100083 False 3 100;0;0 1.63 True ENSG00000103769 ENSG00000103769 HGNC:9760 RAB11B gene RAB11B Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter 617807 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 29106825 False 3 100;0;0 1.63 True ENSG00000185236 ENSG00000185236 HGNC:9761 RAB18 gene RAB18 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Warburg micro syndrome 3, MIM# 614222 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 11237903;23420520 False 3 100;0;0 1.63 True ENSG00000099246 ENSG00000099246 HGNC:14244 RAB23 gene RAB23 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Carpenter syndrome (MIM#201000) Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 17503333;21412941;23599695;25168863 False 3 100;0;0 1.63 True ENSG00000112210 ENSG00000112210 HGNC:14263 RAB39B gene RAB39B Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Intellectual developmental disorder, X-linked 72, OMIM:300271;Waisman syndrome, OMIM:311510 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 20159109;25434005;11050621;29152164;32873259;34761259 False 3 100;0;0 1.63 True ENSG00000155961 ENSG00000155961 HGNC:16499 RAB3GAP1 gene RAB3GAP1 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Warburg micro syndrome 1, MIM# 600118;Martsolf syndrome 2, MIM# 619420 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 15696165;20512159;23420520;23420520;30730599 False 3 100;0;0 1.63 True ENSG00000115839 ENSG00000115839 HGNC:17063 RAB3GAP2 gene RAB3GAP2 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Martsolf syndrome (MIM212720);Warburg micro syndrome 2 (MIM#614225) Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 23420520;32376645 False 3 100;0;0 1.63 True ENSG00000118873 ENSG00000118873 HGNC:17168 RAB5C gene RAB5C Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental disorder MONDO:0700092, RAB5C-related Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 PMID: 37552066 False 3 100;0;0 1.63 True ENSG00000108774 ENSG00000108774 HGNC:9785 RABGAP1 gene RABGAP1 Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder, RABGAP1-related,MONDO:0700092 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 36083289 False 3 100;0;0 1.63 True ENSG00000011454 ENSG00000011454 HGNC:17155 RAC1 gene RAC1 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Mental retardation, autosomal dominant 48, MIM# 617751 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 30042656;29276006;30293988 False 3 100;0;0 1.63 True Other ENSG00000136238 ENSG00000136238 HGNC:9801 RAC3 gene RAC3 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental disorder with structural brain anomalies and dysmorphic facies, MIM#618577 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 30293988;29276006 False 3 0;0;0 1.63 True ENSG00000169750 ENSG00000169750 HGNC:9803 RAD21 gene RAD21 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cornelia de Lange syndrome 4, MIM # 614701 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 22633399;32193685;27882533;30716475;30125677;24378232 False 3 100;0;0 1.63 True ENSG00000164754 ENSG00000164754 HGNC:9811 RAF1 gene RAF1 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Noonan syndrome 5, MIM# 611553 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 17603483;17603482;31145547;31030682;29271604 False 3 100;0;0 1.63 True Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000132155 ENSG00000132155 HGNC:9829 RAI1 gene RAI1 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Smith-Magenis syndrome (MIM#182290) Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 11404004;12652298;15788730 False 3 100;0;0 1.63 True ENSG00000108557 ENSG00000108557 HGNC:9834 RALA gene RALA Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hiatt-Neu-Cooper neurodevelopmental syndrome, MIM# 619311;Intellectual disability;short stature;dysmorphism Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 30500825 False 3 100;0;0 1.63 True ENSG00000006451 ENSG00000006451 HGNC:9839 RALGAPA1 gene RALGAPA1 Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Intellectual disability;hypotonia;infantile spasms. Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 32004447 False 3 100;0;0 1.63 True ENSG00000174373 ENSG00000174373 HGNC:17770 RAP1B gene RAP1B Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Thrombocytopenia 1 with multiple congenital anomalies and dysmorphic facies, MIM# 620654 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 32627184;26280580 False 3 50;0;50 1.63 True ENSG00000127314 ENSG00000127314 HGNC:9857 RAP1GDS1 gene RAP1GDS1 Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Alfadhel syndrome, MIM# 620655 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 32431071;33875846 False 3 100;0;0 1.63 True ENSG00000138698 ENSG00000138698 HGNC:9859 RARB gene RARB Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Microphthalmia, syndromic 12, MIM# 615524 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 30880327;30281527;24075189;27120018;25457163;17506106 False 3 100;0;0 1.63 True ENSG00000077092 ENSG00000077092 HGNC:9865 RARS gene RARS Expert list;Expert Review Green Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Leukodystrophy, hypomyelinating, 9 MIM# 616140 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 31814314 False 3 100;0;0 1.63 True ENSG00000113643 ENSG00000113643 HGNC:9870 RARS2 gene RARS2 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Pontocerebellar hypoplasia, type 6, MIM# 611523 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 17847012;20635367;25809939 False 3 100;0;0 1.63 True ENSG00000146282 ENSG00000146282 HGNC:21406 RBBP5 gene RBBP5 Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted neurodevelopmental disorder MONDO:0700092, RBBP5-related Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 39036895 False 3 100;0;0 1.63 True ENSG00000117222 ENSG00000117222 HGNC:9888 RBBP8 gene RBBP8 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Jawad syndrome, MIM#251255;Seckel syndrome 2, MIM#606744 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 30561437;34270086;32379725 False 3 100;0;0 1.63 True ENSG00000101773 ENSG00000101773 HGNC:9891 RBFOX1 gene RBFOX1 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental disorder (MONDO:0700092), RBFOX1-related Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 24664471;37962958 False 3 50;0;50 1.63 True ENSG00000078328 ENSG00000078328 HGNC:18222 RBL2 gene RBL2 Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Intellectual disability;Brunet-Wagner neurodevelopmental syndrome MIM#619690 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 32105419;9806916 False 3 50;0;50 1.63 True ENSG00000103479 ENSG00000103479 HGNC:9894 RBM10 gene RBM10 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females TARP syndrome, 311900 (3), X-linked recessive Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 24259342;24000153;30462380 False 3 100;0;0 1.63 True ENSG00000182872 ENSG00000182872 HGNC:9896 RBSN gene RBSN Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Kariminejad-Reversade neurodevelopmental syndrome, MIM# 620937 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 25233840;29784638;35652444 False 3 100;0;0 1.63 True ENSG00000131381 ENSG00000131381 HGNC:20759 RELN gene RELN Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Lissencephaly 2 (Norman-Roberts type), MIM# 257320 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 35769015;29671837 False 3 100;0;0 1.63 True ENSG00000189056 ENSG00000189056 HGNC:9957 RERE gene RERE Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart, MIM# 616975 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 27087320;23451234;30896913;30061196 False 3 100;0;0 1.63 True ENSG00000142599 ENSG00000142599 HGNC:9965 RFC4 gene RFC4 Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder, MONDO:0700092, RFC4-related Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 PMID: 39106866 False 3 100;0;0 1.63 True ENSG00000163918 ENSG00000163918 HGNC:9972 RFT1 gene RFT1 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type In, MIM# 612015;RFT1-CDG, MONDO:0012783 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 18313027;19701946;19856127;23111317;30071302;29923091;27927990;26892341 False 3 100;0;0 1.63 True ENSG00000163933 ENSG00000163933 HGNC:30220 RFX3 gene RFX3 Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted ID, ASD, ADHD Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 PMID: 33658631 False 3 100;0;0 1.63 True ENSG00000080298 ENSG00000080298 HGNC:9984 RFX4 gene RFX4 Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted ID, ASD, ADHD Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 PMID: 33658631 False 3 100;0;0 1.63 True ENSG00000111783 ENSG00000111783 HGNC:9985 RFX7 gene RFX7 Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Intellectual developmental disorder, autosomal dominant 71, with behavioral abnormalities, MIM# 620330 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 PMID: 33658631 False 3 100;0;0 1.63 True ENSG00000181827 ENSG00000181827 HGNC:25777 RHEB gene RHEB Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders Other Neurodevelopmental disorder MONDO:0700092, RHEB-related;Intellectual disability;Macrocephaly;Focal cortical dysplasia Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 31337748;29051493 False 3 100;0;0 1.63 True ENSG00000106615 ENSG00000106615 HGNC:10011 RHOBTB2 gene RHOBTB2 Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Epileptic encephalopathy, early infantile, 64, MIM#618004 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 29768694;29276004;37165955 False 3 100;0;0 1.63 True ENSG00000008853 ENSG00000008853 HGNC:18756 RICTOR gene RICTOR Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental disorder MONDO:0700092, RICTOR-related Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 39738822 False 3 100;0;0 1.63 True ENSG00000164327 ENSG00000164327 HGNC:28611 RIT1 gene RIT1 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Noonan syndrome 8, MIM# 615355 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 23791108;25124994;24939608;27101134 False 3 100;0;0 1.63 True Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000143622 ENSG00000143622 HGNC:10023 RLIM gene RLIM Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Tonne-Kalscheuer syndrome, MIM# 300978 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 29728705;25735484;25644381;33159883 False 3 100;0;0 1.63 True Other ENSG00000131263 ENSG00000131263 HGNC:13429 RMND1 gene RMND1 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 11 MIM#614922 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 26395190 False 3 100;0;0 1.63 True ENSG00000155906 ENSG00000155906 HGNC:21176 RNASEH2A gene RNASEH2A Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Aicardi-Goutieres syndrome 4, MIM# 610333 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 3 100;0;0 1.63 True ENSG00000104889 ENSG00000104889 HGNC:18518 RNASEH2B gene RNASEH2B Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Aicardi-Goutieres syndrome 2, MIM# 610181 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 3 100;0;0 1.63 True ENSG00000136104 ENSG00000136104 HGNC:25671 RNASEH2C gene RNASEH2C Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Aicardi-Goutieres syndrome 3, MIM# 610329 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 3 100;0;0 1.63 True ENSG00000172922 ENSG00000172922 HGNC:24116 RNASET2 gene RNASET2 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Leukoencephalopathy, cystic, without megalencephaly, MIM# 612951 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 31349848;19525954;27091087;29336640;18545798;15851732 False 3 100;0;0 1.63 True ENSG00000026297 ENSG00000026297 HGNC:21686 RNF113A gene RNF113A Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females ?Trichothiodystrophy 5, nonphotosensitive;OMIM #300953 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 PMID: 25612912;31793730;31880405 False 3 50;50;0 1.63 True ENSG00000125352 ENSG00000125352 HGNC:12974 RNF125 gene RNF125 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Tenorio syndrome - MIM# 616260 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 25196541 False 3 100;0;0 1.63 True ENSG00000101695 ENSG00000101695 HGNC:21150 RNF13 gene RNF13 Expert list;Expert Review Green Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Epileptic encephalopathy, early infantile, 73 618379" Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 30595371 False 3 100;0;0 1.63 True Other ENSG00000082996 ENSG00000082996 HGNC:10057 RNF220 gene RNF220 Expert Review Green;Literature;Other Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Leukodystrophy, hypomyelinating, 23, with ataxia, deafness, liver dysfunction, and dilated cardiomyopathy, MIM# 619688;Leukodystrophy;CNS hypomyelination;Ataxia;Intellectual disability;Sensorineural hearing impairment;Elevated hepatic transaminases;Hepatic fibrosis;Dilated cardiomyopathy;Spastic paraplegia;Dysarthria;Abnormality of the corpus callosum Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 33964137;10881263 False 3 100;0;0 1.63 True ENSG00000187147 ENSG00000187147 HGNC:25552 RNU2-2P gene RNU2-2P Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental disorder, MONDO:0700092, RNU2-2P-related Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 https://www.medrxiv.org/content/10.1101/2024.09.03.24312863v1 False 3 100;0;0 1.63 True ENSG00000222328 ENSG00000222328 HGNC:10152 RNU4-2 gene RNU4-2 Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental disorder with hypotonia, brain anomalies, distinctive facies, and absent language, MIM# 620851 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 38991538 False 3 100;0;0 1.63 True ENSG00000202538 ENSG00000202538 HGNC:10193 RNU4ATAC gene RNU4ATAC Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Microcephalic osteodysplastic primordial dwarfism, type I, MIM#210710;Roifman syndrome, MIM#616651 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 3 100;0;0 1.63 True ENSG00000264229 ENSG00000264229 HGNC:34016 RNU5B-1 gene RNU5B-1 Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental disorder, MONDO:0700092, RNU5B-1 related Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 https://www.medrxiv.org/content/10.1101/2024.10.04.24314692v1.full.pdf;https://www.medrxiv.org/content/10.1101/2024.10.07.24314689v1 False 3 100;0;0 1.63 True ENSG00000200156 ENSG00000200156 HGNC:10212 RNU7-1 gene RNU7-1 Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Aicardi-Goutieres syndrome 9, MIM# 619487 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 33230297 False 3 100;0;0 1.63 True ENSG00000238923 ENSG00000238923 HGNC:34033 ROBO1 gene ROBO1 Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Neurooculorenal syndrome, MIM# 620305 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 28286008;30692597;35227688;35348658 False 3 100;0;0 1.63 True ENSG00000169855 ENSG00000169855 HGNC:10249 ROGDI gene ROGDI Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Kohlschutter-Tonz syndrome, MIM# 226750 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 22424600;23086778;33866847 False 3 100;0;0 1.63 True ENSG00000067836 ENSG00000067836 HGNC:29478 ROR2 gene ROR2 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Robinow syndrome, autosomal recessive, MIM#268310 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 33937263;32954672;32172608 False 3 50;0;50 1.63 True ENSG00000169071 ENSG00000169071 HGNC:10257 RORA gene RORA Expert list;Expert Review Green Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Intellectual developmental disorder with or without epilepsy or cerebellar ataxia, MIM#618060 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 29656859 False 3 100;0;0 1.63 True Other ENSG00000069667 ENSG00000069667 HGNC:10258 RPGRIP1L gene RPGRIP1L Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 7, MIM# 611560;Meckel syndrome 5, MIM# 611561 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 3 100;0;0 1.63 True ENSG00000103494 ENSG00000103494 HGNC:29168 RPH3A gene RPH3A Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental disorder (MONDO#0700092), RPH3A-related Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 37403762;29441694 False 3 100;0;0 1.63 True ENSG00000089169 ENSG00000089169 HGNC:17056 RPIA gene RPIA Expert Review;Expert Review Green Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Ribose 5-phosphate isomerase deficiency, MIM 608611 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 14988808;10589548;20499043;28801340;30088433 False 3 100;0;0 1.63 True ENSG00000153574 ENSG00000153574 HGNC:10297 RPL10 gene RPL10 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Mental retardation, X-linked, syndromic, 35 (MIM#300998) Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 25316788;26290468;25846674;29066376 False 3 100;0;0 1.63 True ENSG00000147403 ENSG00000147403 HGNC:10298 RPS6KA3 gene RPS6KA3 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Coffin-Lowry syndrome MIM# 303600 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 3 100;0;0 1.63 True ENSG00000177189 ENSG00000177189 HGNC:10432 RRAS2 gene RRAS2 Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Noonan syndrome 12 MIM#618624 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 PMID: 31130282;31130285 False 3 50;50;0 1.63 True Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000133818 ENSG00000133818 HGNC:17271 RRM2B gene RRM2B Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy) 612075;Mitochondrial DNA depletion syndrome 8B (MNGIE type) 612075 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 3 100;0;0 1.63 True ENSG00000048392 ENSG00000048392 HGNC:17296 RSRC1 gene RSRC1 Expert list;Expert Review Green Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Intellectual developmental disorder, autosomal recessive 70, MIM# 618402" Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 28640246;29522154 False 3 100;0;0 1.63 True ENSG00000174891 ENSG00000174891 HGNC:24152 RTEL1 gene RTEL1 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Dyskeratosis congenita, autosomal recessive 5, MIM#615190 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 3 100;0;0 1.63 True ENSG00000258366 ENSG00000258366 HGNC:15888 RTN4IP1 gene RTN4IP1 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Optic atrophy 10 with or without ataxia, mental retardation, and seizures, MIM#616732 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 26593267 False 3 100;0;0 1.63 True ENSG00000130347 ENSG00000130347 HGNC:18647 RTTN gene RTTN Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Microcephaly, short stature, and polymicrogyria with seizures, MIM# 614833;Microcephalic primordial dwarfism due to RTTN deficiency MONDO:0018764 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 22939636;26608784;26940245;30121372;29967526;30927481;30121372 False 3 100;0;0 1.63 True ENSG00000176225 ENSG00000176225 HGNC:18654 RUNX1T1 gene RUNX1T1 Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental disorder MONDO:0700092, RUNX1T1-related Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 39568205;19172993;22644616;31223340 False 3 100;0;0 1.63 True ENSG00000079102 ENSG00000079102 HGNC:1535 RYBP gene RYBP Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental disorder, MONDO:0700092, RYBP-related Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 39891528 False 3 100;0;0 1.63 True ENSG00000163602 ENSG00000163602 HGNC:10480 SAMD9 gene SAMD9 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted MIRAGE Syndrome, MIM#617053 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 27182967;34659124;32194975;29175836;37195360;30900330;37745698 False 3 50;0;50 1.63 True ENSG00000205413 ENSG00000205413 HGNC:1348 SAMHD1 gene SAMHD1 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Aicardi-Goutieres syndrome 5, MIM# 612952 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 20301648;29239743;25246298;19525956;21102625;33307271;35418820 False 3 100;0;0 1.63 True ENSG00000101347 ENSG00000101347 HGNC:15925 SARS gene SARS Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal neurodevelopmental disorder MONDO#070009, SARS1-related Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 28236339;34570399;35790048 False 3 33;33;33 1.63 True ENSG00000031698 ENSG00000031698 HGNC:10537 SARS2 gene SARS2 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis, MIM#613845 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 21255763;24034276 False 3 100;0;0 1.63 True ENSG00000104835 ENSG00000104835 HGNC:17697 SART3 gene SART3 Expert list;Expert Review Green Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder (MONDO#0700092), SART3-related, with 46,XY gonadal dysgenesis Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 PMID: 37296101 False 3 100;0;0 1.63 True ENSG00000075856 ENSG00000075856 HGNC:16860 SASS6 gene SASS6 Expert Review;Expert Review Green Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Microcephaly 14, primary, autosomal recessive, MIM# 616402 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 24951542;30639237 False 3 100;0;0 1.63 True ENSG00000156876 ENSG00000156876 HGNC:25403 SATB1 gene SATB1 Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Kohlschutter-Tonz syndrome-like, MIM# 619229;Developmental delay with dysmorphic facies and dental anomalies, MIM# 619228;Neurodevelopmental disorder;intellectual disability;epilepsy;microcephaly Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 33057194;33513338 False 3 100;0;0 1.63 True ENSG00000182568 ENSG00000182568 HGNC:10541 SATB2 gene SATB2 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Glass syndrome, MIM# 612313;MONDO:0100147 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 29023086;28151491;32446642 False 3 100;0;0 1.63 True ENSG00000119042 ENSG00000119042 HGNC:21637 SBF1 gene SBF1 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Charcot-Marie-Tooth disease, type 4B3, MIM# 615284;MONDO:0014117 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 24799518;23749797;30039846;28902413 False 3 100;0;0 1.63 True ENSG00000100241 ENSG00000100241 HGNC:10542 SC5D gene SC5D Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Lathosterolosis, MIM#607330 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 17853487;12189593;12812989;24142275 False 3 100;0;0 1.63 True ENSG00000109929 ENSG00000109929 HGNC:10547 SCAF4 gene SCAF4 Expert Review;Expert Review Green Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Fliedner-Zweier syndrome, MIM#620511 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 32730804 False 3 100;0;0 1.63 True ENSG00000156304 ENSG00000156304 HGNC:19304 SCAMP5 gene SCAMP5 Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Intellectual disability;seizures;autism Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 PMID: 31439720;33390987 False 3 50;50;0 1.63 True Other ENSG00000198794 ENSG00000198794 HGNC:30386 SCAPER gene SCAPER Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Intellectual developmental disorder and retinitis pigmentosa;OMIM #618195 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 PMID: 28794130;31069901;31192531;30723319 False 3 100;0;0 1.63 True ENSG00000140386 ENSG00000140386 HGNC:13081 SCN1A gene SCN1A Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders Unknown Epileptic encephalopathy, early infantile, 6 (Dravet syndrome) 607208 Developmental and epileptic encephalopathy 6B, non-Dravet, MIM# 619317 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 3 100;0;0 1.63 True ENSG00000144285 ENSG00000144285 HGNC:10585 SCN1B gene SCN1B Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Epileptic encephalopathy, early infantile, 52, MIM#617350 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 3 100;0;0 1.63 True ENSG00000105711 ENSG00000105711 HGNC:10586 SCN2A gene SCN2A Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Developmental and epileptic encephalopathy 11, MIM# 613721" Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 31230762;31904126;28256214;31904120;31924505;31205438;1325650;17021166 False 3 100;0;0 1.63 True ENSG00000136531 ENSG00000136531 HGNC:10588 SCN3A gene SCN3A Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Epilepsy, familial focal, with variable foci 4, MIM# 617935;Epileptic encephalopathy, early infantile, 62, MIM# 617938;Intellectual disability;Malformations of cortical development Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 32515017 False 3 100;0;0 1.63 True Other ENSG00000153253 ENSG00000153253 HGNC:10590 SCN8A gene SCN8A Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Developmental and epileptic encephalopathy 13, MIM# 614558" Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 34353676;38233770;30171078 False 3 100;0;0 1.63 True ENSG00000196876 ENSG00000196876 HGNC:10596 SCO2 gene SCO2 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex IV deficiency, nuclear type 2, MIM# 604377 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 10545952;10749987;18924171 False 3 100;0;0 1.63 True ENSG00000130489 ENSG00000130489 HGNC:10604 SDCCAG8 gene SDCCAG8 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Bardet-Biedl syndrome 16, MIM# 615993;MONDO:0014444;Senior-Loken syndrome 7, MIM# 613615;MONDO:0013326;Nephronophthisis Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 20835237;22626039;22626039;32432520;31534065;26968886 False 3 100;0;0 1.63 True ENSG00000054282 ENSG00000054282 HGNC:10671 SDHA gene SDHA Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex II deficiency, nuclear type 1 MIM#252011 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 1492653;23322652 False 3 100;0;0 1.63 True ENSG00000073578 ENSG00000073578 HGNC:10680 SDHAF1 gene SDHAF1 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex II deficiency, nuclear type 2, MIM# 619166 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 19465911;26749241;22995659 False 3 100;0;0 1.63 True ENSG00000205138 ENSG00000205138 HGNC:33867 SECISBP2 gene SECISBP2 Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Thyroid hormone metabolism, abnormal, 1, MIM# 609698 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 16228000;19602558;21084748;22247018;39315526 False 3 50;0;50 1.63 True ENSG00000187742 ENSG00000187742 HGNC:30972 SEL1L gene SEL1L Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with hypotonia, poor growth, dysmorphic facies, and agammaglobulinaemia, MIM# 621068;Neurodevelopmental disorder with poor growth, absent speech, progressive ataxia, and dysmorphic facies, MIM# 621067 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 PMID: 37943610;PMID: 37943617 False 3 100;0;0 1.63 True ENSG00000071537 ENSG00000071537 HGNC:10717 SEMA6B gene SEMA6B Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Intellectual disability, MONDO:0001071, SEMA6B related Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 PMID: 35604360 False 3 100;0;0 1.63 True ENSG00000167680 ENSG00000167680 HGNC:10739 SEPHS1 gene SEPHS1 Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental disorder, MONDO:0700092, SEPHS1-related Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 38531365 False 3 100;0;0 1.63 True ENSG00000086475 ENSG00000086475 HGNC:19685 SEPSECS gene SEPSECS Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Pontocerebellar hypoplasia type 2D, MIM#613811 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 12920088;25044680 False 3 100;0;0 1.63 True ENSG00000109618 ENSG00000109618 HGNC:30605 SERAC1 gene SERAC1 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome (MEGDEL), MIM#614739 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 24741715;37711114;37090937;28916646;32684373 False 3 100;0;0 1.63 True ENSG00000122335 ENSG00000122335 HGNC:21061 SET gene SET Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Intellectual developmental disorder, autosomal dominant 58, MIM#618106;intellectual disability, autosomal dominant 58, MONDO:0020847 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 29688601;29907757;25356899 False 3 100;0;0 1.63 True ENSG00000119335 ENSG00000119335 HGNC:10760 SETBP1 gene SETBP1 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Schinzel-Giedion syndrome MONDO:0010010;complex neurodevelopmental disorder MONDO:0100038 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 28346496;21037274 False 3 100;0;0 1.63 True ENSG00000152217 ENSG00000152217 HGNC:15573 SETD1A gene SETD1A Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Epilepsy, early-onset, with or without developmental delay, MIM# 618832;Neurodevelopmental disorder with speech impairment and dysmorphic facies, MIM# 619056 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 31197650;32346159 False 3 100;0;0 1.63 True ENSG00000099381 ENSG00000099381 HGNC:29010 SETD1B gene SETD1B Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Intellectual developmental disorder with seizures and language delay (IDDSELD), MIM#619000 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 32546566;29322246;31440728;31685013 False 3 100;0;0 1.63 True ENSG00000139718 ENSG00000139718 HGNC:29187 SETD2 gene SETD2 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Luscan-Lumish syndrome, MIM#616831;Rabin-Pappas syndrome,MIM# 620155;Intellectual developmental disorder, autosomal dominant 70, MIM# 620157 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 29681085;32710489 False 3 100;0;0 1.63 True ENSG00000181555 ENSG00000181555 HGNC:18420 SETD5 gene SETD5 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Intellectual disability, autosomal dominant 23 (MIM # 615761) Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 29484850 False 3 100;0;0 1.63 True ENSG00000168137 ENSG00000168137 HGNC:25566 SF3B1 gene SF3B1 Expert Review Green;Other Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted complex neurodevelopmental disorder MONDO:0100038 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 3 0;100;0 1.63 True ENSG00000115524 ENSG00000115524 HGNC:10768 SFXN4 gene SFXN4 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 18, MIM#615578 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 31059822;24119684 False 3 100;0;0 1.63 True ENSG00000183605 ENSG00000183605 HGNC:16088 SGPL1 gene SGPL1 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Sphingosine Phosphate Lyase Insufficiency Syndrome;RENI syndrome (MIM#617575) Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 33074640 False 3 100;0;0 1.63 True ENSG00000166224 ENSG00000166224 HGNC:10817 SGSH gene SGSH Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mucopolysaccharidosis type IIIA (Sanfilippo A), MIM# 252900;MONDO:0009655 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 7493035;9158154;9401012;9554748 False 3 100;0;0 1.63 True ENSG00000181523 ENSG00000181523 HGNC:10818 SGSM3 gene SGSM3 Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder (MONDO:0700092), SGSM3-related Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 PMID: 37833060;39390489 False 3 100;0;0 1.63 True ENSG00000100359 ENSG00000100359 HGNC:25228 SHANK1 gene SHANK1 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental disorder, MONDO:0700092, SHANK1-related Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 22503632;25188300;34113010 False 3 67;0;33 1.63 True ENSG00000161681 ENSG00000161681 HGNC:15474 SHANK2 gene SHANK2 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Autism, susceptibility to, 17, MIM#613436;complex neurodevelopmental disorder MONDO:0100038 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 20473310;22346768;20531469;35456494;32987185;25188300;22699619;22699620 False 3 100;0;0 1.63 True ENSG00000162105 ENSG00000162105 HGNC:14295 SHANK3 gene SHANK3 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phelan-McDermid syndrome, MIM# 606232;MONDO:0011652 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 16284256;17173049;20186804;22892527 False 3 100;0;0 1.63 True ENSG00000251322 ENSG00000251322 HGNC:14294 SHH gene SHH Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Holoprosencephaly 3 (MIM#142945) Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 22791840;19057928 False 3 100;0;0 1.63 True ENSG00000164690 ENSG00000164690 HGNC:10848 SHMT2 gene SHMT2 Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities (NEDCASB), MIM#619121;Congenital microcephaly;Infantile axial hypotonia;Spastic paraparesis;Global developmental delay;Intellectual disability;Abnormality of the corpus callosum;Abnormal cortical gyration;Hypertrophic cardiomyopathy;Abnormality of the face;Proximal placement of thumb;2-3 toe syndactyly Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 33015733 False 3 100;0;0 1.63 True ENSG00000182199 ENSG00000182199 HGNC:10852 SHOC2 gene SHOC2 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Noonan syndrome-like with loose anagen hair 1, MIM# 607721 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 19684605;23918763;20882035 False 3 100;0;0 1.63 True Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000108061 ENSG00000108061 HGNC:15454 SIAH1 gene SIAH1 Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Buratti-Harel syndrome, MIM# 619314;Developmental delay;Infantile hypotonia;Dysmorphic features;Laryngomalacia Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 32430360 False 3 100;0;0 1.63 True ENSG00000196470 ENSG00000196470 HGNC:10857 SIK1 gene SIK1 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Developmental and epileptic encephalopathy 30, MIM#616341;developmental and epileptic encephalopathy, MONDO#0100062 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 25839329;27966542;35267137 False 3 100;0;0 1.63 True ENSG00000142178 ENSG00000142178 HGNC:11142 SIL1 gene SIL1 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Marinesco-Sjogren syndrome (MIM#248800) Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 24176978;16282977 False 3 100;0;0 1.63 True ENSG00000120725 ENSG00000120725 HGNC:24624 SIN3A gene SIN3A Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Witteveen-Kolk syndrome, OMIM # 613406 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 27399968 False 3 100;0;0 1.63 True ENSG00000169375 ENSG00000169375 HGNC:19353 SIN3B gene SIN3B Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Syndromic intellectual disability/autism spectrum disorder Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 PMID: 33811806 False 3 100;0;0 1.63 True ENSG00000127511 ENSG00000127511 HGNC:19354 SIX3 gene SIX3 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Holoprosencephaly 2, autosomal dominant, MIM#157170 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 20531442;19346217;20157829;15635066 False 3 100;0;0 1.63 True ENSG00000138083 ENSG00000138083 HGNC:10889 SKI gene SKI Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Shprintzen-Goldberg syndrome, MIM# 182212;Neurodevelopmental disorder, MONDO:0700092, SKI-related Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 23023332;23103230;24736733;30071989 False 3 100;0;0 1.63 True ENSG00000157933 ENSG00000157933 HGNC:10896 SLC12A2 gene SLC12A2 Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal "Delpire-McNeill syndrome, MIM# 619083;Kilquist syndrome, MIM#619080;deafness;intellectual disability;dysmorphic features;absent salivation;ectodermal dysplasia;constipation;intestinal malrotation;multiple congenital anomalies" Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 28135719;32658972;27900370;32294086;29288388;30740830;32754646 False 3 67;33;0 1.63 True ENSG00000064651 ENSG00000064651 HGNC:10911 SLC12A5 gene SLC12A5 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Developmental and epileptic encephalopathy 34, MIM# 616645 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 26333769;27436767;31618474;12000122;38660387 False 3 100;0;0 1.63 True ENSG00000124140 ENSG00000124140 HGNC:13818 SLC12A6 gene SLC12A6 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Agenesis of the corpus callosum with peripheral neuropathy, MIM# 218000 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 31439721;27485015;16606917;21628467;12368912;17893295 False 3 100;0;0 1.63 True ENSG00000140199 ENSG00000140199 HGNC:10914 SLC12A9 gene SLC12A9 Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder, MONDO:0700092, SLC12A9-related Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 38334070 False 3 100;0;0 1.63 True ENSG00000146828 ENSG00000146828 HGNC:17435 SLC13A5 gene SLC13A5 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Developmental and epileptic encephalopathy 25, with amelogenesis imperfecta MIM#615905;MONDO:0014392 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 24995870;26384929 False 3 100;0;0 1.63 True ENSG00000141485 ENSG00000141485 HGNC:23089 SLC16A2 gene SLC16A2 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Allan-Herndon-Dudley syndrome, MIM# 300523 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 15980113;31410843;20301789 False 3 100;0;0 1.63 True ENSG00000147100 ENSG00000147100 HGNC:10923 SLC17A5 gene SLC17A5 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Sialic acid storage disorder, infantile, MIM# 269920 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 10581036;10947946 False 3 100;0;0 1.63 True ENSG00000119899 ENSG00000119899 HGNC:10933 SLC18A2 gene SLC18A2 Expert Review;Expert Review Green Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Parkinsonism-dystonia, infantile, 2, MIM# 618049" Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 23363473;31240161;26497564 False 3 100;0;0 1.63 True ENSG00000165646 ENSG00000165646 HGNC:10935 SLC19A3 gene SLC19A3 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2), MIM# 607483 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 15871139;34276785;23482991;20065143 False 3 100;0;0 1.63 True ENSG00000135917 ENSG00000135917 HGNC:16266 SLC1A2 gene SLC1A2 Expert list;Expert Review Green Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Epileptic encephalopathy, early infantile, 41, MIM#617105;Intellectual disability Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 27476654;28777935 False 3 100;0;0 1.63 True ENSG00000110436 ENSG00000110436 HGNC:10940 SLC1A4 gene SLC1A4 Expert list;Expert Review Green Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Spastic tetraplegia, thin corpus callosum, and progressive microcephaly, MIM# 616657;MONDO:0014725" Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 29989513;27193218;26138499;26041762;25930971 False 3 100;0;0 1.63 True ENSG00000115902 ENSG00000115902 HGNC:10942 SLC25A1 gene SLC25A1 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Combined D-2- and L-2-hydroxyglutaric aciduria MIM#: 615182, MONDO:0014072;Myasthenic syndrome, congenital, 23, presynaptic, MIM#618197, MONDO:0032596 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 31527857;26870663 False 3 100;0;0 1.63 True ENSG00000100075 ENSG00000100075 HGNC:10979 SLC25A12 gene SLC25A12 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Developmental and epileptic encephalopathy 39, MIM# 612949 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 19641205;24515575;35008954;32700846;31766059;31514314 False 3 100;0;0 1.63 True ENSG00000115840 ENSG00000115840 HGNC:10982 SLC25A15 gene SLC25A15 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome, MIM#238970 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 18978333;25874378 False 3 100;0;0 1.63 True ENSG00000102743 ENSG00000102743 HGNC:10985 SLC25A22 gene SLC25A22 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Developmental and epileptic encephalopathy 3, MIM# 609304 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 15592994;19780765;24596948;33821742;33342683;31285529 False 3 100;0;0 1.63 True ENSG00000177542 ENSG00000177542 HGNC:19954 SLC2A1 gene SLC2A1 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal GLUT1-deficiency syndrome, MONDO:0000188;Dystonia 9 601042;GLUT1 deficiency syndrome 1, infantile onset, severe 606777;GLUT1 deficiency syndrome 2, childhood onset 612126;Stomatin-deficient cryohydrocytosis with neurologic defects 608885 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 32913944 False 3 100;0;0 1.63 True ENSG00000117394 ENSG00000117394 HGNC:11005 SLC30A9 gene SLC30A9 Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Birk-Landau-Perez syndrome (MIM#617595)" Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 37041080 False 3 100;0;0 1.63 True ENSG00000014824 ENSG00000014824 HGNC:1329 SLC32A1 gene SLC32A1 Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Generalized epilepsy with febrile seizures plus, type 12, MIM# 620755;Developmental and epileptic encephalopathy 114, MIM# 620774 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 36073542 False 3 100;0;0 1.63 True ENSG00000101438 ENSG00000101438 HGNC:11018 SLC33A1 gene SLC33A1 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Congenital cataracts, hearing loss, and neurodegeneration, MIM# 614482 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 31194315 False 3 100;0;0 1.63 True ENSG00000169359 ENSG00000169359 HGNC:95 SLC35A2 gene SLC35A2 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Congenital disorder of glycosylation, type IIm (MIM #300896) 30817854;Mild malformation of cortical development with oligodendroglial hyperplasia in epilepsy (MOGHE) Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 23561849;24115232;27743886;25778940;33407896 False 3 100;0;0 1.63 True ENSG00000102100 ENSG00000102100 HGNC:11022 SLC35C1 gene SLC35C1 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type IIc, MIM# 266265, MONDO:0009953 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 33836758;32313197;34389986 False 3 100;0;0 1.63 True ENSG00000181830 ENSG00000181830 HGNC:20197 SLC38A3 gene SLC38A3 Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Developmental and epileptic encephalopathy 102, MIM# 619881 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 34605855 False 3 100;0;0 1.63 True ENSG00000188338 ENSG00000188338 HGNC:18044 SLC39A14 gene SLC39A14 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Hypermanganesemia with dystonia 2 (MIM# 617013) Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 27231142;29685658 False 3 100;0;0 1.63 True ENSG00000104635 ENSG00000104635 HGNC:20858 SLC39A8 gene SLC39A8 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type IIn , MIM#16721 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 26637978;26637979 False 3 100;0;0 1.63 True ENSG00000138821 ENSG00000138821 HGNC:20862 SLC45A1 gene SLC45A1 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Intellectual developmental disorder with neuropsychiatric features, MIM# 617532 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 28434495;39003656 False 3 100;0;0 1.63 True ENSG00000162426 ENSG00000162426 HGNC:17939 SLC46A1 gene SLC46A1 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Folate malabsorption, hereditary, MIM# 229050 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 17446347;17129779;21333572 False 3 100;0;0 1.63 True ENSG00000076351 ENSG00000076351 HGNC:30521 SLC4A10 gene SLC4A10 Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with hypotonia and characteristic brain abnormalities, MIM# 620746 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 PMID: 37459438 False 3 100;0;0 1.63 True ENSG00000144290 ENSG00000144290 HGNC:13811 SLC4A4 gene SLC4A4 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Renal tubular acidosis, proximal, with ocular abnormalities MIM#604278 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 29914390;11274232;15930088 False 3 100;0;0 1.63 True ENSG00000080493 ENSG00000080493 HGNC:11030 SLC5A6 gene SLC5A6 Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Developmental delay;epilepsy;neurodegeneration;Neurodegeneration, infantile-onset, biotin-responsive, MIM# 618973" Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 31754459;27904971;31392107 False 3 100;0;0 1.63 True ENSG00000138074 ENSG00000138074 HGNC:11041 SLC6A1 gene SLC6A1 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Myoclonic-atonic epilepsy, MIM#616421 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 29315614;38781976 False 3 100;0;0 1.63 True ENSG00000157103 ENSG00000157103 HGNC:11042 SLC6A19 gene SLC6A19 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Hartnup disorder, MIM# 234500 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 3 100;0;0 1.63 True ENSG00000174358 ENSG00000174358 HGNC:27960 SLC6A3 gene SLC6A3 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Parkinsonism-dystonia, infantile, 1, MIM# 613135 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 21112253 False 3 100;0;0 1.63 True ENSG00000142319 ENSG00000142319 HGNC:11049 SLC6A8 gene SLC6A8 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Cerebral creatine deficiency syndrome 1, MIM# 300352 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 27604308;16738945 False 3 100;0;0 1.63 True ENSG00000130821 ENSG00000130821 HGNC:11055 SLC6A9 gene SLC6A9 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Glycine encephalopathy with normal serum glycine 617301 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 27481395;27773429 False 3 100;0;0 1.63 True ENSG00000196517 ENSG00000196517 HGNC:11056 SLC9A6 gene SLC9A6 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Mental retardation, X-linked syndromic, Christianson type, MIM# 300243;MONDO:0010278 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 18342287;19377476;25044251;33278113;32569089;31879735 False 3 100;0;0 1.63 True ENSG00000198689 ENSG00000198689 HGNC:11079 SLF2 gene SLF2 Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Atelis syndrome 1, MIM# 620184 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 36333305 False 3 100;0;0 1.63 True ENSG00000119906 ENSG00000119906 HGNC:17814 SLITRK2 gene SLITRK2 Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Intellectual developmental disorder, X-linked 111, MIM# 301107 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 35840571 False 3 100;0;0 1.63 True ENSG00000185985 ENSG00000185985 HGNC:13449 SMAD4 gene SMAD4 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Myhre syndrome MIM#139210 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 9843046;22243968;7296942;8261650 False 3 100;0;0 1.63 True ENSG00000141646 ENSG00000141646 HGNC:6770 SMARCA2 gene SMARCA2 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Nicolaides-Baraitser syndrome, MIM #601358;Blepharophimosis-intellectual disability syndrome, MIM#619293 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 26468571;32694869 False 3 100;0;0 1.63 True Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000080503 ENSG00000080503 HGNC:11098 SMARCA4 gene SMARCA4 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Coffin-Siris syndrome 4 (MIM# 614609) Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 22426308;23929686;23637025 False 3 100;0;0 1.63 True Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000127616 ENSG00000127616 HGNC:11100 SMARCA5 gene SMARCA5 Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental disorder;microcephaly;dysmorphic features Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 33980485 False 3 100;0;0 1.63 True ENSG00000153147 ENSG00000153147 HGNC:11101 SMARCB1 gene SMARCB1 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Coffin-Siris syndrome 3 (MIM# 614608);MONDO:0015452 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 22426308;29907796;3175698;23556151 False 3 100;0;0 1.63 True Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000099956 ENSG00000099956 HGNC:11103 SMARCC2 gene SMARCC2 Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Coffin-Siris syndrome 8;OMIM #618362 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 PMID: 30580808 False 3 100;0;0 1.63 True ENSG00000139613 ENSG00000139613 HGNC:11105 SMARCD1 gene SMARCD1 Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted no OMIM number yet Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 PMID: 30879640 False 3 100;0;0 1.63 True ENSG00000066117 ENSG00000066117 HGNC:11106 SMARCE1 gene SMARCE1 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Coffin-Siris syndrome 5, MIM# 616938 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 22426308;23906836;23929686;32732226;32436246;32410215;34205270 False 3 100;0;0 1.63 True ENSG00000073584 ENSG00000073584 HGNC:11109 SMC1A gene SMC1A Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Cornelia de Lange syndrome 2 MONDO:0010370 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 20301283 False 3 100;0;0 1.63 True ENSG00000072501 ENSG00000072501 HGNC:11111 SMC3 gene SMC3 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cornelia de Lange syndrome 3 MONDO:0012555 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 20301283 False 3 100;0;0 1.63 True ENSG00000108055 ENSG00000108055 HGNC:2468 SMC5 gene SMC5 Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Atelis syndrome 2, MIM# 620185 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 36333305 False 3 100;0;0 1.63 True ENSG00000198887 ENSG00000198887 HGNC:20465 SMG8 gene SMG8 Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Alzahrani-Kuwahara syndrome, MIM# 619268;Intellectual disability" Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 31130284;33242396 False 3 50;50;0 1.63 True ENSG00000167447 ENSG00000167447 HGNC:25551 SMG9 gene SMG9 Expert list;Expert Review Green Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Heart and brain malformation syndrome, MIM# 616920;Neurodevelopmental disorder with intention tremor, pyramidal signs, dyspraxia, and ocular anomalies, MIM# 619995" Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 27018474;31390136;35087184 False 3 100;0;0 1.63 True ENSG00000105771 ENSG00000105771 HGNC:25763 SMOC1 gene SMOC1 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Microphthalmia with limb anomalies, MIM# 206920 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 21194678;21194680;30445150 False 3 100;0;0 1.63 True ENSG00000198732 ENSG00000198732 HGNC:20318 SMPD1 gene SMPD1 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Niemann-Pick disease, type A, MIM# 257200;MONDO:0009756 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 32292456;32280632;28164782 False 3 100;0;0 1.63 True ENSG00000166311 ENSG00000166311 HGNC:11120 SMPD4 gene SMPD4 Expert Review Green;Genetic Health Queensland;Victorian Clinical Genetics Services Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Severe neurodevelopmental delay, microcephaly, arthrogryposis Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 31495489 False 3 100;0;0 1.63 True ENSG00000136699 ENSG00000136699 HGNC:32949 SMS gene SMS Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Intellectual developmental disorder, X-linked syndromic, Snyder-Robinson type, MIM# 309583;Syndromic X-linked intellectual disability Snyder type, MONDO:0010664 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 30237987;34177437;32838743;23805436 False 3 100;0;0 1.63 True ENSG00000102172 ENSG00000102172 HGNC:11123 SNAP25 gene SNAP25 Expert list;Expert Review Green Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted ?Myasthenic syndrome, congenital, 18;OMIM #616330 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 PMID: 25003006;29100083;28135719 False 3 100;0;0 1.63 True ENSG00000132639 ENSG00000132639 HGNC:11132 SNAP29 gene SNAP29 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome (MIM#609528) Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 33977139;30793783;29051910 False 3 100;0;0 1.63 True ENSG00000099940 ENSG00000099940 HGNC:11133 SNAPC4 gene SNAPC4 Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with motor regression, progressive spastic paraplegia, and oromotor dysfunction, MIM# 620515 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 36965478 False 3 100;0;0 1.63 True ENSG00000165684 ENSG00000165684 HGNC:11137 SNF8 gene SNF8 Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Developmental and epileptic encephalopathy 115, MIM#620783;Neurodevelopmental disorder plus optic atrophy, MIM# 620784 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 38423010 False 3 100;0;0 1.63 True ENSG00000159210 ENSG00000159210 HGNC:17028 SNRPB gene SNRPB Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cerebrocostomandibular syndrome, MIM# 117650 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 25047197;25504470;26971886 False 3 100;0;0 1.63 True ENSG00000125835 ENSG00000125835 HGNC:11153 SNX14 gene SNX14 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Spinocerebellar ataxia, autosomal recessive 20 (MIM#616354) Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 25439728;25848753;27913285 False 3 100;0;0 1.63 True ENSG00000135317 ENSG00000135317 HGNC:14977 SNX27 gene SNX27 Expert Review;Expert Review Green Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal intellectual disability;seizures Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 25894286;31721175;21300787;23524343 False 3 100;0;0 1.63 True ENSG00000143376 ENSG00000143376 HGNC:20073 SOD1 gene SOD1 Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Spastic tetraplegia and axial hypotonia, progressive, MIM#618598 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 PMID: 31314961;31332433;34788402 False 3 100;0;0 1.63 True ENSG00000142168 ENSG00000142168 HGNC:11179 SON gene SON Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted ZTTK syndrome, MIM# 617140 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 27545680;27545676;31005274 False 3 100;0;0 1.63 True ENSG00000159140 ENSG00000159140 HGNC:11183 SOS1 gene SOS1 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Noonan syndrome 4, MIM# 610733 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 17143285;17143282;28884940;17586837 False 3 100;0;0 1.63 True Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000115904 ENSG00000115904 HGNC:11187 SOS2 gene SOS2 Expert list;Expert Review Green Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Noonan syndrome 9, MIM# 616559" Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 3 100;0;0 1.63 True ENSG00000100485 ENSG00000100485 HGNC:11188 SOX10 gene SOX10 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Peripheral demyelinating neuropathy Central demyelination, Waardenburg and Hirschsprung disease, OMIM #609136;Waardenburg syndrome, type 2E, with or without neurologic involvement (OMIM #611584) Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 10762540;34667088;38132479 False 3 100;0;0 1.63 True ENSG00000100146 ENSG00000100146 HGNC:11190 SOX11 gene SOX11 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism, MIM# 615866 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 24886874;33785884;33430815;33086258;31530938;35642566;35341651 False 3 100;0;0 1.63 True ENSG00000176887 ENSG00000176887 HGNC:11191 SOX2 gene SOX2 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Microphthalmia, syndromic 3, MIM# 206900;Optic nerve hypoplasia and abnormalities of the central nervous system, MIM# 206900 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 30450772;28121235;25542770;24498598;24211324;24033328;21326281 False 3 100;0;0 1.63 True ENSG00000181449 ENSG00000181449 HGNC:11195 SOX4 gene SOX4 Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Coffin-Siris syndrome 10;OMIM #618506 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 PMID: 30661772 False 3 100;0;0 1.63 True ENSG00000124766 ENSG00000124766 HGNC:11200 SOX5 gene SOX5 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Lamb-Shaffer syndrome, MIM#616803 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 31578471 False 3 100;0;0 1.63 True ENSG00000134532 ENSG00000134532 HGNC:11201 SOX6 gene SOX6 Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted ADHD;Craniosynostosis;Osteochondromas;Tolchin-Le Caignec syndrome, MIM#618971 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 32442410 False 3 100;0;0 1.63 True ENSG00000110693 ENSG00000110693 HGNC:16421 SP9 gene SP9 Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted neurodevelopmental disorder MONDO:0700092 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 PMID: 38288683 False 3 100;0;0 1.63 True ENSG00000217236 ENSG00000217236 HGNC:30690 SPART gene SPART Expert list;Expert Review Green Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Troyer syndrome;OMIM #275900 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 PMID: 26003402;28679690;27112432;20437587;12134148;18413476;31314595;28875386 False 3 100;0;0 1.63 True ENSG00000133104 ENSG00000133104 HGNC:18514 SPATA5 gene SPATA5 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with hearing loss, seizures, and brain abnormalities MIM#616577 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 30009132;29343804 False 3 100;0;0 1.63 True ENSG00000145375 ENSG00000145375 HGNC:18119 SPATA5L1 gene SPATA5L1 Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with hearing loss and spasticity, MIM# 619616 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 34626583 False 3 100;0;0 1.63 True ENSG00000171763 ENSG00000171763 HGNC:28762 SPECC1L gene SPECC1L Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Teebi hypertelorism syndrome 1, MIM# 145420 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 31953237;30472488 False 3 50;0;50 1.63 True ENSG00000100014 ENSG00000100014 HGNC:29022 SPEN gene SPEN Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Radio-Tartaglia syndrome, MIM# 619312;Intellectual disability;autism;congenital anomalies Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 33057194;33596411 False 3 50;50;0 1.63 True ENSG00000065526 ENSG00000065526 HGNC:17575 SPG11 gene SPG11 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia 11, autosomal recessive 604360 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 33581793 False 3 100;0;0 1.63 True ENSG00000104133 ENSG00000104133 HGNC:11226 SPOP gene SPOP Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Intellectual disability;dysmorphism;microcephaly;macrocephaly Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 32109420 False 3 100;0;0 1.63 True Other ENSG00000121067 ENSG00000121067 HGNC:11254 SPR gene SPR Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Dystonia, dopa-responsive, due to sepiapterin reductase deficiency, MIM# 612716 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 29302074;16049044;17188538 False 3 50;50;0 1.63 True ENSG00000116096 ENSG00000116096 HGNC:11257 SPRED1 gene SPRED1 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Legius syndrome, MIM# 611431 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 17704776;19366998;21548021 False 3 100;0;0 1.63 True ENSG00000166068 ENSG00000166068 HGNC:20249 SPRED2 gene SPRED2 Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Noonan syndrome 14, MIM# 619745 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 PMID: 34626534 False 3 100;0;0 1.63 True ENSG00000198369 ENSG00000198369 HGNC:17722 SPTAN1 gene SPTAN1 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Developmental and epileptic encephalopathy 5, MIM# 613477 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 20493457;22258530;32811770;36331550 False 3 100;0;0 1.63 True ENSG00000197694 ENSG00000197694 HGNC:11273 SPTBN1 gene SPTBN1 Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Developmental delay, impaired speech, and behavioural abnormalities, MIM# 619475 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 PMID: 34211179 PMID: 33847457 False 3 100;0;0 1.63 True ENSG00000115306 ENSG00000115306 HGNC:11275 SPTBN2 gene SPTBN2 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Spinocerebellar ataxia, autosomal recessive 14, MIM# 615386;Spinocerebellar ataxia 5, MIM# 600224 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 23236289;23838597;22781464;31617442;31066025 False 3 100;0;0 1.63 True ENSG00000173898 ENSG00000173898 HGNC:11276 SPTBN4 gene SPTBN4 Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with hypotonia, neuropathy, and deafness MIM#617519 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 28540413;29861105 False 3 100;0;0 1.63 True ENSG00000160460 ENSG00000160460 HGNC:14896 SRCAP gene SRCAP Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Floating-Harbor syndrome MIM#136140;Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities, MIM# 619595" Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 33909990 False 3 100;0;0 1.63 True ENSG00000080603 ENSG00000080603 HGNC:16974 SRD5A3 gene SRD5A3 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type Iq, MIM#612379;Kahrizi syndrome, MIM# 612713 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 32424323 False 3 100;0;0 1.63 True ENSG00000128039 ENSG00000128039 HGNC:25812 SRPK3 gene SRPK3 Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Intellectual developmental disorder, X-linked, 114, MIM#301134 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 39073169 False 3 100;0;0 1.63 True ENSG00000184343 ENSG00000184343 HGNC:11402 SRRM2 gene SRRM2 Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Intellectual developmental disorder, autosomal dominant 72, MIM# 620439 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 33057194;35567594 False 3 50;50;0 1.63 True ENSG00000167978 ENSG00000167978 HGNC:16639 SRSF1 gene SRSF1 Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental disorder with dysmorphic facies and behavioral abnormalities, MIM# 620489 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 37071997 False 3 100;0;0 1.63 True ENSG00000136450 ENSG00000136450 HGNC:10780 SSR4 gene SSR4 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Congenital disorder of glycosylation, type Iy, MIM# 300934 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 24218363;26264460 False 3 100;0;0 1.63 True ENSG00000180879 ENSG00000180879 HGNC:11326 ST3GAL3 gene ST3GAL3 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Intellectual disability, autosomal recessive 12 MIM# 611090 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 23252400;21907012;31584066;37938134 False 3 100;0;0 1.63 True ENSG00000126091 ENSG00000126091 HGNC:10866 ST3GAL5 gene ST3GAL5 Expert list;Expert Review Green Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Salt and pepper developmental regression syndrome 609056;GM3 synthase deficiency, MONDO:0018274;Lactosylceramide alpha-2,3-sialyltransferase deficiency (Disorders of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation) Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 15502825;22990144;30185102;24026681;23436467;22990144;15502825;27232954;30691927;30688114;30576498 False 3 100;0;0 1.63 True ENSG00000115525 ENSG00000115525 HGNC:10872 STAG1 gene STAG1 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Mental retardation, autosomal dominant 47, MIM# 617635 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 28119487;34440290 False 3 100;0;0 1.63 True ENSG00000118007 ENSG00000118007 HGNC:11354 STAG2 gene STAG2 Expert list;Expert Review Green Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Mullegama-Klein-Martinez syndrome, MIM#301022 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 30765867;28296084;30447054;29263825;30158690 False 3 0;0;0 1.63 True ENSG00000101972 ENSG00000101972 HGNC:11355 STAMBP gene STAMBP Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Microcephaly-capillary malformation syndrome, MIM# 614261;MONDO:0013659 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 23542699;31638258;29907875;27531570;25692795;25266620 False 3 100;0;0 1.63 True ENSG00000124356 ENSG00000124356 HGNC:16950 STIL gene STIL Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Microcephaly 7, primary, autosomal recessive, MIM# 612703;MONDO:0012989 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 19215732;22989186;25218063;33132204;32677750;29230157 False 3 100;0;0 1.63 True ENSG00000123473 ENSG00000123473 HGNC:10879 STRA6 gene STRA6 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Matthew-Wood syndrome MONDO:0011010 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 17273977 False 3 100;0;0 1.63 True ENSG00000137868 ENSG00000137868 HGNC:30650 STRADA gene STRADA Expert list;Expert Review Green Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Polyhydramnios, megalencephaly, and symptomatic epilepsy, MIM# 611087" Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 17522105;27170158;28688840 False 3 100;0;0 1.63 True ENSG00000266173 ENSG00000266173 HGNC:30172 STT3A gene STT3A Expert list;Expert Review Green Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Congenital disorder of glycosylation, type Iw, AR, OMIM #615596;Congenital disorder of glycosylation, type Iw, autosomal dominant, MIM# 619714 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 23842455;30701557;28424003;34653363 False 3 67;0;33 1.63 True ENSG00000134910 ENSG00000134910 HGNC:6172 STX1A gene STX1A Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal neurodevelopmental disorder MONDO#0700092, STX1A-related Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 3 100;0;0 1.63 True ENSG00000106089 ENSG00000106089 HGNC:11433 STX1B gene STX1B Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Generalized epilepsy with febrile seizures plus, type 9, MIM# 616172 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 25362483;33677401 False 3 100;0;0 1.63 True ENSG00000099365 ENSG00000099365 HGNC:18539 STXBP1 gene STXBP1 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted developmental and epileptic encephalopathy, 4 MONDO:0012812 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 27905812 False 3 100;0;0 1.63 True ENSG00000136854 ENSG00000136854 HGNC:11444 SUCLA2 gene SUCLA2 Expert list;Expert Review Green Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria);OMIM #612073 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 PMID: 27913098;15877282;23759946;17287286;17301081 False 3 100;0;0 1.63 True ENSG00000136143 ENSG00000136143 HGNC:11448 SUCLG1 gene SUCLG1 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria) MIM#245400 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 33230783;28358460 False 3 100;0;0 1.63 True ENSG00000163541 ENSG00000163541 HGNC:11449 SUFU gene SUFU Expert list;Expert Review Green Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Joubert syndrome 32, MIM#617757;SUFU-related neurodevelopmental syndrome Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 28965847;33024317 False 3 100;0;0 1.63 True ENSG00000107882 ENSG00000107882 HGNC:16466 SUMF1 gene SUMF1 Expert list;Expert Review Green Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Multiple sulfatase deficiency;OMIM #272200 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 3 100;0;0 1.63 True ENSG00000144455 ENSG00000144455 HGNC:20376 SUOX gene SUOX Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal isolated sulfite oxidase deficiency MONDO:0010089 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 28933809 False 3 100;0;0 1.63 True ENSG00000139531 ENSG00000139531 HGNC:11460 SUPT16H gene SUPT16H Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental disorder with dysmorphic facies and thin corpus callosum, MIM# 619480;Intellectual disability;Abnormality of the corpus callosum Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 31924697 False 3 100;0;0 1.63 True ENSG00000092201 ENSG00000092201 HGNC:11465 SURF1 gene SURF1 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex IV deficiency, nuclear type 1, MIM# 220110 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 9843204;9837813 False 3 100;0;0 1.63 True ENSG00000148290 ENSG00000148290 HGNC:11474 SUZ12 gene SUZ12 Expert list;Expert Review Green Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Imagawa-Matsumoto syndrome, MIM# 618786;Intellectual disability;Overgrowth Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 PMID: 31736240;30019515;28229514 False 3 100;0;0 1.63 True ENSG00000178691 ENSG00000178691 HGNC:17101 SVBP gene SVBP Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with ataxia, hypotonia, and microcephaly;OMIM #618569 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 PMID: 31363758;30607023 False 3 100;0;0 1.63 True ENSG00000177868 ENSG00000177868 HGNC:29204 SYN1 gene SYN1 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females X-linked complex neurodevelopmental disorder MONDO:0100148;epilepsy, X-linked 1, with variable learning disabilities and behavior disorders MONDO:0010339 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 3 100;0;0 1.63 True ENSG00000008056 ENSG00000008056 HGNC:11494 SYNCRIP gene SYNCRIP Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Global developmental delay;Intellectual disability;Autism;Myoclonic atonic seizures;Abnormality of nervous system morphology Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 34157790;30504930;27479843;23020937 False 3 0;100;0 1.63 True ENSG00000135316 ENSG00000135316 HGNC:16918 SYNGAP1 gene SYNGAP1 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Intellectual disability, autosomal dominant 5 (MIM # 612621) Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 26079862 False 3 100;0;0 1.63 True ENSG00000197283 ENSG00000197283 HGNC:11497 SYNJ1 gene SYNJ1 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Developmental and epileptic encephalopathy 53, MIM# 617389 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 32435303;27435091 False 3 100;0;0 1.63 True ENSG00000159082 ENSG00000159082 HGNC:11503 SYP gene SYP Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Mental retardation, X-linked 96 MIM#300802 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 23966691;19377476 False 3 100;0;0 1.63 True ENSG00000102003 ENSG00000102003 HGNC:11506 SYT1 gene SYT1 Expert list;Expert Review Green Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Baker-Gordon syndrome, MIM# 618218;MONDO:0033864 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 PubMed: 30107533 False 3 100;0;0 1.63 True ENSG00000067715 ENSG00000067715 HGNC:11509 SZT2 gene SZT2 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 23932106;30560016;30359774;28556953;32402703 False 3 100;0;0 1.63 True ENSG00000198198 ENSG00000198198 HGNC:29040 TAB2 gene TAB2 Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Congenital heart defects, multiple types, 2 MONDO:0014000 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 35971781 False 3 100;0;0 1.63 True ENSG00000055208 ENSG00000055208 HGNC:17075 TAF1 gene TAF1 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Mental retardation, X-linked, syndromic 33, MIM# 300966 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 31646703 False 3 100;0;0 1.63 True ENSG00000147133 ENSG00000147133 HGNC:11535 TAF2 gene TAF2 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mental retardation, autosomal recessive 40, MIM# 615599 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 21937992;22633631;26350204;34474177 False 3 50;50;0 1.63 True ENSG00000064313 ENSG00000064313 HGNC:11536 TAF4 gene TAF4 Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Intellectual developmental disorder, autosomal dominant 73, MIM# 620450 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 33875846;28191890;35904126 False 3 67;33;0 1.63 True ENSG00000130699 ENSG00000130699 HGNC:11537 TAF6 gene TAF6 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Alazami-Yuan syndrome, MIM# 617126 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 25558065;25574841;32030742 False 3 100;0;0 1.63 True ENSG00000106290 ENSG00000106290 HGNC:11540 TAF8 gene TAF8 Expert list;Expert Review Green Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with severe motor impairment, absent language, cerebral hypomyelination, and brain atrophy, MIM# 619972 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 PMID: 29648665;35759269 False 3 50;0;50 1.63 True ENSG00000137413 ENSG00000137413 HGNC:17300 TANC2 gene TANC2 Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Intellectual disability;autism;epilepsy;dysmorphism;Intellectual developmental disorder with autistic features and language delay, with or without seizures, MIM# 618906" Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 PMID: 31616000 False 3 100;0;0 1.63 True ENSG00000170921 ENSG00000170921 HGNC:30212 TANGO2 gene TANGO2 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration, MIM# 616878;metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration MONDO:0014812" Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 29369572 False 3 100;0;0 1.63 True ENSG00000183597 ENSG00000183597 HGNC:25439 TAOK1 gene TAOK1 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Developmental delay with or without intellectual impairment or behavioural abnormalities, MIM#619575;Intellectual disability;hypotonia;macrocephaly Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 31230721 False 3 100;0;0 1.63 True ENSG00000160551 ENSG00000160551 HGNC:29259 TAOK2 gene TAOK2 Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted neurodevelopmental disorder, MONDO:0700092, TAOK2-related Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 39737487 False 3 100;0;0 1.63 True ENSG00000149930 ENSG00000149930 HGNC:16835 TARS2 gene TARS2 Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 21, MIM# 615918;Epilepsy;Developmental Delay Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 33153448;24827421;34508595 False 3 100;0;0 1.63 True ENSG00000143374 ENSG00000143374 HGNC:30740 TASP1 gene TASP1 Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Developmental delay;microcephaly;dysmorphic features;congenital abnormalities;Suleiman-El-Hattab syndrome, MIM#618950 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 31209944;31350873 False 3 100;0;0 1.63 True ENSG00000089123 ENSG00000089123 HGNC:15859 TAT gene TAT Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal tyrosinemia type II MONDO:0010160 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 28255985 False 3 100;0;0 1.63 True ENSG00000198650 ENSG00000198650 HGNC:11573 TAZ gene TAZ Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Barth syndrome MONDO:0010543 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 25299040 False 3 100;0;0 1.63 True ENSG00000102125 ENSG00000102125 HGNC:11577 TBC1D20 gene TBC1D20 Expert list;Expert Review Green Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Warburg micro syndrome 4;OMIM #615663 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 PubMed: 24239381 False 3 100;0;0 1.63 True ENSG00000125875 ENSG00000125875 HGNC:16133 TBC1D23 gene TBC1D23 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Pontocerebellar hypoplasia, type 11, MIM# 617695 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 28823707;28823706 False 3 100;0;0 1.63 True ENSG00000036054 ENSG00000036054 HGNC:25622 TBC1D24 gene TBC1D24 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Developmental and epileptic encephalopathy 16, MIM# 615338;DOORS syndrome, MIM# 220500" Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 25719194 False 3 100;0;0 1.63 True ENSG00000162065 ENSG00000162065 HGNC:29203 TBC1D2B gene TBC1D2B Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with seizures and gingival overgrowth (NEDSGO), MIM#619323;Global developmental delay;Intellectual disability;Seizures;Gingival overgrowth;Behavioral abnormality;Abnormality of the mandible;Abnormality of brain morphology;Abnormality of the eye;Hearing abnormality Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 32623794 False 3 33;67;0 1.63 True ENSG00000167202 ENSG00000167202 HGNC:29183 TBC1D7 gene TBC1D7 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Macrocephaly/megalencephaly syndrome, autosomal recessive, MIM# 248000 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 24515783;23687350;36669495 False 3 100;0;0 1.63 True ENSG00000145979 ENSG00000145979 HGNC:21066 TBCD gene TBCD Expert Review;Expert Review Green;Genetic Health Queensland;Victorian Clinical Genetics Services Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum, MIM#617193 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 27666370;27666374 False 3 100;0;0 1.63 True ENSG00000141556 ENSG00000141556 HGNC:11581 TBCE gene TBCE Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Encephalopathy, progressive, with amyotrophy and optic atrophy MIM:617207;Hypoparathyroidism-retardation-dysmorphism syndrome MIM:241410 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 27666369;17699660;34356170;34134906 False 3 100;0;0 1.63 True ENSG00000116957 ENSG00000116957 HGNC:11582 TBCK gene TBCK Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Hypotonia, infantile, with psychomotor retardation and characteristic facies 3, MIM# 616900 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 27040692;30103036;27040691 False 3 100;0;0 1.63 True ENSG00000145348 ENSG00000145348 HGNC:28261 TBL1XR1 gene TBL1XR1 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Mental retardation, autosomal dominant 41, MIM# 616944;Pierpont syndrome, MIM# 602342 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 26769062;30365874;25425123;9450851;23160955;28687524;23176139;16007632 False 3 100;0;0 1.63 True ENSG00000177565 ENSG00000177565 HGNC:29529 TBR1 gene TBR1 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Intellectual developmental disorder with autism and speech delay, MIM# 606053 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 25232744;30250039 False 3 100;0;0 1.63 True ENSG00000136535 ENSG00000136535 HGNC:11590 TBX1 gene TBX1 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted DiGeorge syndrome, MIM# 188400 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 3 100;0;0 1.63 True ENSG00000184058 ENSG00000184058 HGNC:11592 TCEAL1 gene TCEAL1 Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Neurodevelopmental disorder with gait disturbance, dysmorphic facies and behavioral abnormalities, X-linked, MIM# 301094 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 PMID: 36368327 False 3 100;0;0 1.63 True ENSG00000172465 ENSG00000172465 HGNC:11616 TCF20 gene TCF20 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Developmental delay with variable intellectual impairment and behavioral abnormalities, AD, MIM#618430 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 30739909;30819258;25228304 False 3 100;0;0 1.63 True ENSG00000100207 ENSG00000100207 HGNC:11631 TCF4 gene TCF4 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Pitt-Hopkins syndrome MONDO:0012589 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 22934316 False 3 100;0;0 1.63 True ENSG00000196628 ENSG00000196628 HGNC:11634 TCF7L2 gene TCF7L2 Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Global developmental delay;Intellectual disability;Autism;Attention deficit hyperactivity disorder;Myopia;Abnormality of skeletal system Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 33057194;34003604 False 3 33;67;0 1.63 True ENSG00000148737 ENSG00000148737 HGNC:11641 TCN2 gene TCN2 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Transcobalamin II deficiency, 275350 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 19373259;32841161;33023511;30124850 False 3 100;0;0 1.63 True ENSG00000185339 ENSG00000185339 HGNC:11653 TCP1 gene TCP1 Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Intellectual developmental disorder with polymicrogyria and seizures, MIM# 621021 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 39480921 False 3 100;0;0 1.63 True ENSG00000120438 ENSG00000120438 HGNC:11655 TCTN1 gene TCTN1 Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 13, MIM# 614173;MONDO:0013608 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 31302911;28631893;21725307;26477546;34980503 False 3 100;0;0 1.63 True ENSG00000204852 ENSG00000204852 HGNC:26113 TCTN2 gene TCTN2 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 24, MIM# 616654 MONDO:0014724 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 21565611;25118024 False 3 100;0;0 1.63 True ENSG00000168778 ENSG00000168778 HGNC:25774 TCTN3 gene TCTN3 Expert list;Expert Review Green Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 18, OMIM #614815;Orofaciodigital syndrome IV, OMIM #258860 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 PubMed: 22883145;25118024;26092869 False 3 0;100;0 1.63 True ENSG00000119977 ENSG00000119977 HGNC:24519 TDP2 gene TDP2 Expert list;Expert Review Green Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Spinocerebellar ataxia, autosomal recessive 23;OMIM #616949 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 PMID: 31410782;30109272;24658003 False 3 100;0;0 1.63 True ENSG00000111802 ENSG00000111802 HGNC:17768 TECPR2 gene TECPR2 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia 49, autosomal recessive, 615031;Autonomic-sensory neuropathy;Intellectual disability Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 23176824;26542466 False 3 100;0;0 1.63 True ENSG00000196663 ENSG00000196663 HGNC:19957 TEFM gene TEFM Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 58, MIM# 620451 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 36823193 False 3 100;0;0 1.63 True ENSG00000172171 ENSG00000172171 HGNC:26223 TELO2 gene TELO2 Expert list;Expert Review Green Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal You-Hoover-Fong syndrome, MIM#616954;Syndromic intellectual disability Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 27132593;28944240 False 3 100;0;0 1.63 True ENSG00000100726 ENSG00000100726 HGNC:29099 TENM3 gene TENM3 Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Microphthalmia, syndromic 15, MIM#615145;coloboma Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 30513139;22766609;27103084;29753094 False 3 100;0;0 1.63 True ENSG00000218336 ENSG00000218336 HGNC:29944 TERT gene TERT Expert list;Expert Review Green Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Dyskeratosis congenita, autosomal dominant 2, OMIM #613989;Dyskeratosis congenita, autosomal recessive 4, OMIM #613989;Pulmonary fibrosis and/or bone marrow failure, telomere-related, 1, OMIM #614742 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 3 100;0;0 1.63 True ENSG00000164362 ENSG00000164362 HGNC:11730 TET3 gene TET3 Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Beck-Fahrner syndrome MIM#618798 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 31928709 False 3 100;0;0 1.63 True ENSG00000187605 ENSG00000187605 HGNC:28313 TFE3 gene TFE3 Expert list;Expert Review Green Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Intellectual developmental disorder, X-linked, syndromic, with pigmentary mosaicism and coarse facies, MIM# 301066;Intellectual disability;Epilepsy;Coarse facial features Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 30595499;31833172;32409512 False 3 100;0;0 1.63 True Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000068323 ENSG00000068323 HGNC:11752 TGIF1 gene TGIF1 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Holoprosencephaly 4, MIM# 142946;MONDO:0007734 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 10835638;16323008 False 3 100;0;0 1.63 True ENSG00000177426 ENSG00000177426 HGNC:11776 TH gene TH Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Segawa syndrome, recessive MIM#605407 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 22815559;11196107;10585338 False 3 100;0;0 1.63 True ENSG00000180176 ENSG00000180176 HGNC:11782 THOC2 gene THOC2 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Mental retardation, X-linked 12/35 MIM#300957 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 26166480;32116545;29851191;32960281 False 3 100;0;0 1.63 True ENSG00000125676 ENSG00000125676 HGNC:19073 THOC6 gene THOC6 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Beaulieu-Boycott-Innes syndrome, MIM# 613680 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 23621916;26739162;27102954;30238602;30476144 False 3 100;0;0 1.63 True ENSG00000131652 ENSG00000131652 HGNC:28369 THRA gene THRA Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hypothyroidism congenital nongoitrous 6 (MIM 614450) Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 22494134;23940126;24847461;25670821;26037512;25621899;27144938;28856816;30842990;37469961 False 3 100;0;0 1.63 True ENSG00000126351 ENSG00000126351 HGNC:11796 THUMPD1 gene THUMPD1 Expert Review Green;Other Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Syndromic disease, MONDO:0002254, THUMPD1-related Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 3 100;0;0 1.63 True ENSG00000066654 ENSG00000066654 HGNC:23807 TIAM1 gene TIAM1 Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with language delay and seizures, MIM# 619908 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 3 100;0;0 1.63 True ENSG00000156299 ENSG00000156299 HGNC:11805 TIMM50 gene TIMM50 Expert list;Expert Review Green Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal 3-methylglutaconic aciduria, type IX, MIM#617698 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 27573165;30190335;31058414 False 3 100;0;0 1.63 True ENSG00000105197 ENSG00000105197 HGNC:23656 TINF2 gene TINF2 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Revesz syndrome, MIM# 268130 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 1404302;18252230;21477109 False 3 100;0;0 1.63 True ENSG00000092330 ENSG00000092330 HGNC:11824 TLK2 gene TLK2 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Intellectual disability, MIM 618050;Neurodevelopmental disease Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 29861108;29942082;27479843;23911319;30559488;29942082;31558842 False 3 100;0;0 1.63 True ENSG00000146872 ENSG00000146872 HGNC:11842 TMCO1 gene TMCO1 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development 1, MIM# 213980;cerebrofaciothoracic dysplasia MONDO:0008952" Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 1204988;1640432;15326640;20018682 False 3 100;0;0 1.63 True ENSG00000143183 ENSG00000143183 HGNC:18188 TMEM106B gene TMEM106B Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Leukodystrophy, hypomyelinating, 16 (MIM #617964) Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 29186371;29444210;32595021 False 3 100;0;0 1.63 True Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000106460 ENSG00000106460 HGNC:22407 TMEM147 gene TMEM147 Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with facial dysmorphism, absent language, and pseudo-Pelger-Huet anomaly, MIM# 620075 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 PMID: 36044892 False 3 100;0;0 1.63 True ENSG00000105677 ENSG00000105677 HGNC:30414 TMEM163 gene TMEM163 Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Hypomyelinating leukodystrophy, MONDO:0019046 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 PMID: 35953447 False 3 100;0;0 1.63 True ENSG00000152128 ENSG00000152128 HGNC:25380 TMEM165 gene TMEM165 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type IIk, MIM# 614727;TMEM165-CDG, MONDO:0013870 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 22683087;28323990;27401145;27008884;26238249;25609749 False 3 100;0;0 1.63 True ENSG00000134851 ENSG00000134851 HGNC:30760 TMEM216 gene TMEM216 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 2 MONDO:0011963 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 20036350 False 3 100;0;0 1.63 True ENSG00000187049 ENSG00000187049 HGNC:25018 TMEM218 gene TMEM218 Expert Review;Expert Review Green Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 39, MIM#619562 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 33791682;25161209 False 3 100;0;0 1.63 True ENSG00000150433 ENSG00000150433 HGNC:27344 TMEM222 gene TMEM222 Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with motor and speech delay and behavioural abnormalities, MIM# 619470;Motor delay;Delayed speech and language development;Intellectual disability;Generalized hypotonia;Broad-based gait;Abnormality of nervous system morphology;Seizures;Microcephaly;Behavioral abnormality Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 33824500 False 3 100;0;0 1.63 True ENSG00000186501 ENSG00000186501 HGNC:25363 TMEM237 gene TMEM237 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 14, MIM# 614424 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 22152675 False 3 100;0;0 1.63 True ENSG00000155755 ENSG00000155755 HGNC:14432 TMEM240 gene TMEM240 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Spinocerebellar ataxia 21, MIM# 607454;spinocerebellar ataxia type 21 MONDO:0011833" Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 25070513 False 3 100;0;0 1.63 True ENSG00000205090 ENSG00000205090 HGNC:25186 TMEM5 gene TMEM5 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 10, MIM# 615041 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 23217329;23519211 False 3 100;0;0 1.63 True ENSG00000118600 ENSG00000118600 HGNC:13530 TMEM63B gene TMEM63B Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted developmental and epileptic encephalopathy, MONDO:0100062, TMEM63B-related Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 37421948 False 3 100;0;0 1.63 True ENSG00000137216 ENSG00000137216 HGNC:17735 TMEM63C gene TMEM63C Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia 87, autosomal recessive, MIM# 619966 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 PMID: 35718349 False 3 100;0;0 1.63 True ENSG00000165548 ENSG00000165548 HGNC:23787 TMEM67 gene TMEM67 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 6, MIM# 610688;Meckel syndrome 3, MIM# 607361;COACH syndrome 1, MIM# 216360 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 16415887;17377820;17160906;19508969 False 3 100;0;0 1.63 True ENSG00000164953 ENSG00000164953 HGNC:28396 TMEM70 gene TMEM70 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2, MIM# 614052 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 18953340 False 3 100;0;0 1.63 True ENSG00000175606 ENSG00000175606 HGNC:26050 TMEM94 gene TMEM94 Expert list;Expert Review Green Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Intellectual developmental disorder with cardiac defects and dysmorphic facies, MIM#618316 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 30526868 False 3 100;0;0 1.63 True ENSG00000177728 ENSG00000177728 HGNC:28983 TMTC3 gene TMTC3 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Lissencephaly 8 (MIM#617255) Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 27773428;28973161 False 3 100;0;0 1.63 True ENSG00000139324 ENSG00000139324 HGNC:26899 TMX2 gene TMX2 Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Microcephaly;ID;brain malformations Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 31735293;31586943 False 3 100;0;0 1.63 True ENSG00000213593 ENSG00000213593 HGNC:30739 TNPO2 gene TNPO2 Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies, MIM# 619556 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 PMID: 34314705 False 3 100;0;0 1.63 True Other ENSG00000105576 ENSG00000105576 HGNC:19998 TNR gene TNR Expert list;Expert Review Green Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder, nonprogressive, with spasticity and transient opisthotonus, MIM# 619653;Spastic para- or tetraparesis;Axial muscular hypotonia;Intellectual disability;Transient opisthotonus Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 32099069 False 3 100;0;0 1.63 True ENSG00000116147 ENSG00000116147 HGNC:11953 TNRC6B gene TNRC6B Expert Review Green;Genetic Health Queensland;Victorian Clinical Genetics Services Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Global developmental delay with speech and behavioural abnormalities, MIM# 619243 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 32152250;28135719;25363768;27479843;28959963;25228304 False 3 100;0;0 1.63 True ENSG00000100354 ENSG00000100354 HGNC:29190 TOE1 gene TOE1 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Pontocerebellar hypoplasia, type 7, MIM# 614969 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 28092684 False 3 100;0;0 1.63 True ENSG00000132773 ENSG00000132773 HGNC:15954 TOGARAM1 gene TOGARAM1 Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 37, MIM# 619185 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 32747439;32453716 False 3 100;0;0 1.63 True ENSG00000198718 ENSG00000198718 HGNC:19959 TP73 gene TP73 Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary, 47, and lissencephaly, MIM#619466;Intellectual disability;lissencephaly Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 31130284;34077761 False 3 100;0;0 1.63 True ENSG00000078900 ENSG00000078900 HGNC:12003 TPP1 gene TPP1 Expert list;Expert Review Green Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Ceroid lipofuscinosis, neuronal, 2, OMIM #204500;Spinocerebellar ataxia, autosomal recessive 7, OMIM #609270 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 3 100;0;0 1.63 True ENSG00000166340 ENSG00000166340 HGNC:2073 TPP2 gene TPP2 Expert list;Expert Review Green Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Immunodeficiency 78 with autoimmunity and developmental delay, MIM# 619220 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 25525876;25414442;33586135;18362329 False 3 100;0;0 1.63 True ENSG00000134900 ENSG00000134900 HGNC:12016 TRA2B gene TRA2B Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Neurodevelopmental disorder, TRA2B-related, MONDO# 0700092 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 PMID: 36549593 False 3 100;0;0 1.63 True ENSG00000136527 ENSG00000136527 HGNC:10781 TRAF7 gene TRAF7 Expert list;Expert Review Green Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cardiac, facial, and digital anomalies with developmental delay;OMIM #618164 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 PMID: 29961569 False 3 100;0;0 1.63 True ENSG00000131653 ENSG00000131653 HGNC:20456 TRAIP gene TRAIP Expert list;Expert Review Green Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Seckel syndrome 9, MIM#616777 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 26595769 False 3 100;0;0 1.63 True ENSG00000183763 ENSG00000183763 HGNC:30764 TRAK1 gene TRAK1 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Epileptic encephalopathy, early infantile, 68, MIM# 618201 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 28940097;28364549;29846532 False 3 100;0;0 1.63 True ENSG00000182606 ENSG00000182606 HGNC:29947 TRAPPC10 gene TRAPPC10 Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with microcephaly, short stature, and speech delay, MIM# 620027 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 PMID: 35298461;30167849 False 3 100;0;0 1.63 True ENSG00000160218 ENSG00000160218 HGNC:11868 TRAPPC11 gene TRAPPC11 Expert list;Expert Review Green Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy, limb-girdle, autosomal recessive 18;OMIM #615356 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 PMID: 23830518;27707803 False 3 100;0;0 1.63 True ENSG00000168538 ENSG00000168538 HGNC:25751 TRAPPC12 gene TRAPPC12 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Encephalopathy, progressive, early-onset, with brain atrophy and spasticity, MIM#617669 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 28777934 False 3 0;100;0 1.63 True ENSG00000171853 ENSG00000171853 HGNC:24284 TRAPPC4 gene TRAPPC4 Expert Review;Expert Review Green Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy, MIM# 618741 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 31794024 False 3 100;0;0 1.63 True ENSG00000196655 ENSG00000196655 HGNC:19943 TRAPPC6B gene TRAPPC6B Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy, MIM# 617862 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 28626029;28397838;31687267 False 3 100;0;0 1.63 True ENSG00000182400 ENSG00000182400 HGNC:23066 TRAPPC9 gene TRAPPC9 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Intellectual disability, autosomal recessive 13 (MIM# 613192) Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 22549410;20004765;20004763;30853973;29187737 False 3 100;0;0 1.63 True ENSG00000167632 ENSG00000167632 HGNC:30832 TREX1 gene TREX1 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Aicardi-Goutieres syndrome MONDO:0018866 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 25604658;16845398;17357087;31559893 False 3 100;0;0 1.63 True ENSG00000213689 ENSG00000213689 HGNC:12269 TRIM8 gene TRIM8 Expert list;Expert Review Green Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Focal segmental glomerulosclerosis and neurodevelopmental syndrome, MIM# 619428;Intellectual disability;Seizures;FSGS Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 30244534;27346735;23934111;33508234 False 3 100;0;0 1.63 True ENSG00000171206 ENSG00000171206 HGNC:15579 TRIO gene TRIO Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Mental retardation, autosomal dominant 44, MIM# 617061 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 26721934;32109419 False 3 100;0;0 1.63 True ENSG00000038382 ENSG00000038382 HGNC:12303 TRIP12 gene TRIP12 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Mental retardation autosomal dominant 49, Clark-Baraitser Syndrome, MIM#617752 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 27848077;28251352 False 3 100;0;0 1.63 True ENSG00000153827 ENSG00000153827 HGNC:12306 TRIT1 gene TRIT1 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 35, MIM#617873 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 32088416;24901367;28185376;30977854 False 3 100;0;0 1.63 True ENSG00000043514 ENSG00000043514 HGNC:20286 TRMT1 gene TRMT1 Expert list;Expert Review Green Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Intellectual developmental disorder, autosomal recessive 68 MIM#618302" Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 PMID: 30289604;26308914;21937992 False 3 100;0;0 1.63 True ENSG00000104907 ENSG00000104907 HGNC:25980 TRMT10A gene TRMT10A Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Microcephaly, short stature, and impaired glucose metabolism 1, MIM# 616033;MONDO:0000208 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 24204302;25053765;33448213;33067246;26535115;26526202;26297882 False 3 100;0;0 1.63 True ENSG00000145331 ENSG00000145331 HGNC:28403 TRNT1 gene TRNT1 Expert list;Expert Review Green Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Retinitis pigmentosa and erythrocytic microcytosis, OMIM #616959;Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay, OMIM #616084 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 PubMed: 25193871;23553769;29170023;27389523 False 3 100;0;0 1.63 True ENSG00000072756 ENSG00000072756 HGNC:17341 TRPM3 gene TRPM3 Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skeletal anomalies, with or without seizures, MIM# 620224 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 31278393 False 3 100;0;0 1.63 True ENSG00000083067 ENSG00000083067 HGNC:17992 TRPM7 gene TRPM7 Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Familial primary hypomagnesaemia, MONDO:0018100, TRPM7-related Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 35561741;35712613;39099563 False 3 100;0;0 1.63 True ENSG00000092439 ENSG00000092439 HGNC:17994 TRRAP gene TRRAP Expert list;Expert Review Green Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Developmental delay with or without dysmorphic facies and autism;OMIM #618454 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 PubMed: 30827496 False 3 100;0;0 1.63 True ENSG00000196367 ENSG00000196367 HGNC:12347 TSC1 gene TSC1 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Tuberous sclerosis MIM#191100 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 10533067;18830229;15798777;17304050 False 3 100;0;0 1.63 True ENSG00000165699 ENSG00000165699 HGNC:12362 TSC2 gene TSC2 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Tuberous sclerosis MIM#613254 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 14985384;10533067;10205261;17304050 False 3 100;0;0 1.63 True ENSG00000103197 ENSG00000103197 HGNC:12363 TSEN15 gene TSEN15 Expert list;Expert Review Green Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Pontocerebellar hypoplasia, type 2F, 617026 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 27392077;30914295;25558065 False 3 100;0;0 1.63 True ENSG00000198860 ENSG00000198860 HGNC:16791 TSEN2 gene TSEN2 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Pontocerebellar hypoplasia type 2B, MIM# 612389 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 23562994;20952379 False 3 100;0;0 1.63 True ENSG00000154743 ENSG00000154743 HGNC:28422 TSEN54 gene TSEN54 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal pontocerebellar hypoplasia type 2A MONDO:0010190 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 20301773 False 3 100;0;0 1.63 True ENSG00000182173 ENSG00000182173 HGNC:27561 TSFM gene TSFM Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 3, MIM#610505 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 25037205;33816677;31451716;22499341 False 3 100;0;0 1.63 True ENSG00000123297 ENSG00000123297 HGNC:12367 TSHB gene TSHB Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Central congenital hypothyroidism Orphanet:226298 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 15292359;27362444 False 3 100;0;0 1.63 True ENSG00000134200 ENSG00000134200 HGNC:12372 TSPOAP1 gene TSPOAP1 Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Dystonia 22, MIM# 620453 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 33539324 False 3 100;0;0 1.63 True ENSG00000005379 ENSG00000005379 HGNC:16831 TTC19 gene TTC19 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex III deficiency, nuclear type 2, MIM#615157 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 21278747;23532514;24368687;24397319 False 3 100;0;0 1.63 True ENSG00000011295 ENSG00000011295 HGNC:26006 TTC37 gene TTC37 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal trichohepatoenteric syndrome 1 MONDO:0024541 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 29334452 False 3 100;0;0 1.63 True ENSG00000198677 ENSG00000198677 HGNC:23639 TTC5 gene TTC5 Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with cerebral atrophy and variable facial dysmorphism , MIM#619244;Central hypotonia;Global developmental delay;Intellectual disability;Abnormality of nervous system morphology;Microcephaly;Abnormality of the face;Behavioral abnormality;Abnormality of the genitourinary system Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 29302074;32439809 False 3 100;0;0 1.63 True ENSG00000136319 ENSG00000136319 HGNC:19274 TTC8 gene TTC8 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Bardet-Biedl syndrome 8, MIM# 615985 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 14520415;19797195 False 3 100;0;0 1.63 True ENSG00000165533 ENSG00000165533 HGNC:20087 TTI1 gene TTI1 Expert list;Expert Review Green Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Neurodevelopmental disorder with microcephaly and movement abnormalities, MIM# 620445" Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 26539891;30315573;36724785 False 3 33;67;0 1.63 True ENSG00000101407 ENSG00000101407 HGNC:29029 TTI2 gene TTI2 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mental retardation, autosomal recessive 39 (MIM#615541) AR Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 32061250;23956177;31737043 False 3 100;0;0 1.63 True ENSG00000129696 ENSG00000129696 HGNC:26262 TUBA1A gene TUBA1A Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Lissencephaly 3, MIM# 611603 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 3 100;0;0 1.63 True ENSG00000167552 ENSG00000167552 HGNC:20766 TUBB gene TUBB Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cortical dysplasia, complex, with other brain malformations 6, MIM#615771 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 23246003 False 3 100;0;0 1.63 True ENSG00000196230 ENSG00000196230 HGNC:20778 TUBB2A gene TUBB2A Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cortical dysplasia, complex, with other brain malformations 5, MIM# 615763 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 32571897 False 3 100;0;0 1.63 True ENSG00000137267 ENSG00000137267 HGNC:12412 TUBB2B gene TUBB2B Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cortical dysplasia, complex, with other brain malformations 7 MIM#610031 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 11425694;23001566;19465910;22333901 False 3 100;0;0 1.63 True ENSG00000137285 ENSG00000137285 HGNC:30829 TUBB3 gene TUBB3 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted complex cortical dysplasia with other brain malformations 1 MONDO:0013541 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 20829227 False 3 100;0;0 1.63 True ENSG00000258947 ENSG00000258947 HGNC:20772 TUBB4A gene TUBB4A Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted hypomyelinating leukodystrophy 6 MONDO:0012905 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 37529938;35661708;27538619;24526230 False 3 100;0;0 1.63 True ENSG00000104833 ENSG00000104833 HGNC:20774 TUBG1 gene TUBG1 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted complex cortical dysplasia with other brain malformations 4 MONDO:0014171 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 29706637;23603762 False 3 100;0;0 1.63 True ENSG00000131462 ENSG00000131462 HGNC:12417 TUBGCP2 gene TUBGCP2 Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Lissencephaly;pachygyria;subcortical band heterotopia;microcephaly;intellectual disability Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 31630790 False 3 100;0;0 1.63 True ENSG00000130640 ENSG00000130640 HGNC:18599 TUBGCP6 gene TUBGCP6 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Microcephaly and chorioretinopathy, autosomal recessive, 1, MIM#251270 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 25344692;22279524 False 3 100;0;0 1.63 True ENSG00000128159 ENSG00000128159 HGNC:18127 TUSC3 gene TUSC3 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mental retardation, autosomal recessive 7, MIM# 611093, MONDO:0012615;TUSC3-CDG (Disorders of protein N-glycosylation) Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 18452889;18455129;21739581;27148795;31606977 False 3 100;0;0 1.63 True ENSG00000104723 ENSG00000104723 HGNC:30242 TWIST1 gene TWIST1 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Saethre-Chotzen syndrome MONDO:0007042 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 20301368 False 3 100;0;0 1.63 True ENSG00000122691 ENSG00000122691 HGNC:12428 U2AF2 gene U2AF2 Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Developmental delay, dysmorphic facies, and brain anomalies, MIM# 620535 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 34112922;37092751;36747105;37134193 False 3 50;50;0 1.63 True ENSG00000063244 ENSG00000063244 HGNC:23156 UBA5 gene UBA5 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Epileptic encephalopathy, early infantile, 44 (MIM#617132) Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 33811063 False 3 100;0;0 1.63 True ENSG00000081307 ENSG00000081307 HGNC:23230 UBAP2L gene UBAP2L Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental disorder with impaired language, behavioral abnormalities, and dysmorphic facies, MIM# 620494;Delayed speech and language development;Motor delay;Intellectual disability;Autistic behavior;Seizures;Microcephaly;Abnormality of head or neck;Short stature;Abnormality of the skeletal system Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 35977029 False 3 100;0;0 1.63 True ENSG00000143569 ENSG00000143569 HGNC:29877 UBE2A gene UBE2A Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Mental retardation, X-linked syndromic, Nascimento-type (MIM#300860) Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 24053514;16909393 False 3 100;0;0 1.63 True ENSG00000077721 ENSG00000077721 HGNC:12472 UBE3A gene UBE3A Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed) Angelman syndrome MONDO:0007113 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 20301323 False 3 100;0;0 1.63 True ENSG00000114062 ENSG00000114062 HGNC:12496 UBE3B gene UBE3B Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Kaufman oculocerebrofacial syndrome, MIM# 244450;MONDO:0009485 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 23200864;23200864;34012380;32949109 False 3 100;0;0 1.63 True ENSG00000151148 ENSG00000151148 HGNC:13478 UBE3C gene UBE3C Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with absent speech and movement and behavioral abnormalities, MIM# 620270 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 PMID: 36401616 False 3 100;0;0 1.63 True ENSG00000009335 ENSG00000009335 HGNC:16803 UBE4A gene UBE4A Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with hypotonia and gross motor and seech delay, MIM# 619639 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 PMID: 33420346 False 3 100;0;0 1.63 True ENSG00000110344 ENSG00000110344 HGNC:12499 UBR1 gene UBR1 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Johanson-Blizzard syndrome (MIM#243800) Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 24599544 False 3 100;0;0 1.63 True ENSG00000159459 ENSG00000159459 HGNC:16808 UBR5 gene UBR5 Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental disorder MONDO:0700092, UBR5-related Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 39721588 False 3 100;0;0 1.63 True ENSG00000104517 ENSG00000104517 HGNC:16806 UBR7 gene UBR7 Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Li-Campeau syndrome, MIM# 619189;Intellectual disability;epilepsy;hypothyroidism;congenital anomalies;dysmorphic features Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 33340455 False 3 100;0;0 1.63 True ENSG00000012963 ENSG00000012963 HGNC:20344 UBTF gene UBTF Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodegeneration, childhood-onset, with brain atrophy, MIM# 617672;MONDO:0044701;Neurodevelopmental disorder, MONDO:0700092, UBTF-related Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 28777933;29300972;39366741 False 3 50;50;0 1.63 True ENSG00000108312 ENSG00000108312 HGNC:12511 UFC1 gene UFC1 Expert list;Expert Review Green Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with spasticity and poor growth;OMIM #618076 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 PubMed: 29868776 False 3 100;0;0 1.63 True ENSG00000143222 ENSG00000143222 HGNC:26941 UFM1 gene UFM1 Expert list;Expert Review Green Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Leukodystrophy, hypomyelinating, 14;OMIM #617899 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 PubMed: 27545674;27545681;28931644 False 3 100;0;0 1.63 True ENSG00000120686 ENSG00000120686 HGNC:20597 UFSP2 gene UFSP2 Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Developmental and epileptic encephalopathy 106, MIM# 620028;Abnormal muscle tone;Seizures;Global developmental delay;Delayed speech and language development;Intellectual disability;Strabismus Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 33473208 False 3 50;50;0 1.63 True ENSG00000109775 ENSG00000109775 HGNC:25640 UGDH gene UGDH Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Epileptic encephalopathy, early infantile, 84 - MIM #618792 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 32001716 False 3 100;0;0 1.63 True ENSG00000109814 ENSG00000109814 HGNC:12525 UGP2 gene UGP2 Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Epileptic encephalopathy;intellectual disability;microcephaly Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 31820119 False 3 100;0;0 1.63 True ENSG00000169764 ENSG00000169764 HGNC:12527 UMPS gene UMPS Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Orotic aciduria MIM# 258900 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 9042911;33489760 False 3 100;0;0 1.63 True ENSG00000114491 ENSG00000114491 HGNC:12563 UNC13A gene UNC13A Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Congenital myasthenia;dyskinesia;autism;developmental delay;neurodevelopmental disorder MONDO#0700092, UNC13A-related Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 27648472;28192369 False 3 50;0;50 1.63 True ENSG00000130477 ENSG00000130477 HGNC:23150 UNC79 gene UNC79 Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental disorder (MONDO:0700092), UNC79-related Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 PMID:37183800 False 3 0;100;0 1.63 True ENSG00000133958 ENSG00000133958 HGNC:19966 UNC80 gene UNC80 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Hypotonia, infantile, with psychomotor retardation and characteristic facies 2, MIM# 616801;MONDO:0014777 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 26708751;26708753;26545877;32620897;30167850;30167850 False 3 100;0;0 1.63 True ENSG00000144406 ENSG00000144406 HGNC:26582 UPB1 gene UPB1 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Beta-ureidopropionase deficiency, OMIM #613161 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 27604308;24526388;25638458;22525402;15385443;17964839 False 3 50;50;0 1.63 True ENSG00000100024 ENSG00000100024 HGNC:16297 UPF3B gene UPF3B Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Mental retardation, X-linked, syndromic 14, MIM# 300676 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 19377476;17704778;31737052;28948974;32667670 False 3 100;0;0 1.63 True ENSG00000125351 ENSG00000125351 HGNC:20439 USP18 gene USP18 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Pseudo-TORCH syndrome 2;OMIM #617397 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 31940699;12833411;27325888 False 3 100;0;0 1.63 True ENSG00000184979 ENSG00000184979 HGNC:12616 USP27X gene USP27X Expert list;Expert Review Green Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Intellectual disability, X-linked 105, MIM#300984 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 25644381;38182161 False 3 100;0;0 1.63 True ENSG00000242013 ENSG00000273820 HGNC:13486 USP7 gene USP7 Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hao-Fountain syndrome, MIM# 616863;MONDO:0014805;Intellectual disability;Autism Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 30679821;26365382 False 3 100;0;0 1.63 True ENSG00000187555 ENSG00000187555 HGNC:12630 USP9X gene USP9X Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Intellectual developmental disorder 99 MIM#300919;syndromic, female-restricted Intellectual developmental disorder 99 MIM#300968 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 31443933;26833328 False 3 100;0;0 1.63 True ENSG00000124486 ENSG00000124486 HGNC:12632 VAMP2 gene VAMP2 Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental disorder with hypotonia and autistic features with or without hyperkinetic movements 618760;Cortical visual impairment;Seizures;Stereotypic behaviour;Generalized hypotonia;Intellectual disability Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 PMID: 30929742 False 3 100;0;0 1.63 True ENSG00000220205 ENSG00000220205 HGNC:12643 VARS gene VARS Expert list;Expert Review Green Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy;OMIM #617802 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 PubMed: 30755616;30755602;26539891;29691655;30275004 False 3 100;0;0 1.63 True ENSG00000204394 ENSG00000204394 HGNC:12651 VARS2 gene VARS2 Expert list;Expert Review Green Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 20;OMIM #615917 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 PubMed: 24827421;25058219;29137650;29314548;31064326 False 3 100;0;0 1.63 True ENSG00000137411 ENSG00000137411 HGNC:21642 VCP gene VCP Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental disorder (MONDO: 0700092) Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 PMID: 37883978 False 3 100;0;0 1.63 True ENSG00000165280 ENSG00000165280 HGNC:12666 VIPAS39 gene VIPAS39 Expert list;Expert Review Green Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Arthrogryposis, renal dysfunction, and cholestasis 2;OMIM #613404 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 PMID: 20190753 False 3 100;0;0 1.63 True ENSG00000151445 ENSG00000151445 HGNC:20347 VLDLR gene VLDLR Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1 MONDO:0024542 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 20301729 False 3 100;0;0 1.63 True ENSG00000147852 ENSG00000147852 HGNC:12698 VPS11 gene VPS11 Expert list;Expert Review Green Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Leukodystrophy, hypomyelinating, 12, MIM#616683 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 27120463;26307567;27473128 False 3 100;0;0 1.63 True ENSG00000160695 ENSG00000160695 HGNC:14583 VPS13B gene VPS13B Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Cohen syndrome MONDO:0008999 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 20301655 False 3 100;0;0 1.63 True ENSG00000132549 ENSG00000132549 HGNC:2183 VPS16 gene VPS16 Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal mucopolysaccharidosis-like disorder, VPS16-related MONDO#0100365 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 33938619;34013567;34901436 False 3 100;0;0 1.63 True ENSG00000215305 ENSG00000215305 HGNC:14584 VPS33B gene VPS33B Expert list;Expert Review Green Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Arthrogryposis, renal dysfunction, and cholestasis 1;OMIM #208085 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 PMID: 31240160;30561130 False 3 100;0;0 1.63 True ENSG00000184056 ENSG00000184056 HGNC:12712 VPS41 gene VPS41 Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Spinocerebellar ataxia-29 (SCAR29), MIM#619389;Progressive neurodevelopmental disorder with ataxia, hypotonia, dystonia, intellectual disability and speech delay Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 32808683;33764426 False 3 100;0;0 1.63 True ENSG00000006715 ENSG00000006715 HGNC:12713 VPS4A gene VPS4A Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted CIMDAG syndrome MIM# 619273 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 33186543;33186545 False 3 100;0;0 1.63 True Other ENSG00000132612 ENSG00000132612 HGNC:13488 VPS50 gene VPS50 Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with microcephaly, seizures, and neonatal cholestasis , MIM#619685;Neonatal cholestatic liver disease;Failure to thrive;Profound global developmental delay;Postnatal microcephaly;Seizures;Abnormality of the corpus callosum Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 34037727;38876772 False 3 33;67;0 1.63 True ENSG00000004766 ENSG00000004766 HGNC:25956 VPS53 gene VPS53 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Pontocerebellar hypoplasia, type 2E, OMIM #615851 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 24577744;12920088 False 3 100;0;0 1.63 True ENSG00000141252 ENSG00000141252 HGNC:25608 VRK1 gene VRK1 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal pontocerebellar hypoplasia type 1A MONDO:0011866 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 19646678 False 3 100;0;0 1.63 True ENSG00000100749 ENSG00000100749 HGNC:12718 WAC gene WAC Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Desanto-Shinawi syndrome 616708 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 26264232;26757981 False 3 100;0;0 1.63 True ENSG00000095787 ENSG00000095787 HGNC:17327 WARS gene WARS Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder withmicrocephaly and speech delay, with or without brain abnormalities,MIM# 620317 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 PMID: 35815345;35790048 False 3 100;0;0 1.63 True ENSG00000140105 ENSG00000140105 HGNC:12729 WARS2 gene WARS2 Expert list;Expert Review Green Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures, MIM#617710 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 29783990;28236339;29120065;28650581;28905505 False 3 100;0;0 1.63 True ENSG00000116874 ENSG00000116874 HGNC:12730 WASF1 gene WASF1 Expert list;Expert Review Green Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental disorder with absent language and variable seizures , MIM#618707 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 29961568;34845217;34478686;34356165 False 3 100;0;0 1.63 True ENSG00000112290 ENSG00000112290 HGNC:12732 WASHC4 gene WASHC4 Expert list;Expert Review Green Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Intellectual developmental disorder, autosomal recessive 43 MIM#615817" Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 PubMed: 21498477 False 3 67;33;0 1.63 True ENSG00000136051 ENSG00000136051 HGNC:29174 WBP4 gene WBP4 Expert Review Green;Other Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder, MONDO:0700092, WBP4-related Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 37963460 False 3 100;0;0 1.63 True ENSG00000120688 ENSG00000120688 HGNC:12739 WDFY3 gene WDFY3 Expert Review Green;Genetic Health Queensland;Victorian Clinical Genetics Services Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Microcephaly 18, primary, autosomal dominant, MIM#617520 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 31327001;27008544 False 3 100;0;0 1.63 True ENSG00000163625 ENSG00000163625 HGNC:20751 WDPCP gene WDPCP Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Bardet-Biedl syndrome 15, MIM# 615992;OFD;Congenital heart defects, hamartomas of tongue, and polysyndactyly, 217085 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 20671153;25427950;32055034;29588463;28289185 False 3 100;0;0 1.63 True ENSG00000143951 ENSG00000143951 HGNC:28027 WDR11 gene WDR11 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder, MONDO:0700092, WDR11-related Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 34413497;20887964;29263200 False 3 50;25;25 1.63 True ENSG00000120008 ENSG00000120008 HGNC:13831 WDR26 gene WDR26 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Skraban-Deardorff syndrome, MIM#617616 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 28686853;33506510;33675273 False 3 100;0;0 1.63 True ENSG00000162923 ENSG00000162923 HGNC:21208 WDR37 gene WDR37 Expert list;Expert Review Green Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurooculocardiogenitourinary syndrome;OMIM #618652 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 PubMed: 31327508;31327510 False 3 100;0;0 1.63 True ENSG00000047056 ENSG00000047056 HGNC:31406 WDR4 gene WDR4 Expert list;Expert Review Green Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Galloway-Mowat syndrome 6, OMIM #618347;Microcephaly, growth deficiency, seizures, and brain malformations, OMIM #618346 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 26416026;30079490;29597095;28617965 False 3 100;0;0 1.63 True ENSG00000160193 ENSG00000160193 HGNC:12756 WDR44 gene WDR44 Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Ciliopathy, MONDO:0005308, WDR44-related Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 38191484 False 3 100;0;0 1.63 True ENSG00000131725 ENSG00000131725 HGNC:30512 WDR45 gene WDR45 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) X-linked complex neurodevelopmental disorder MONDO:0100148;neurodegeneration with brain iron accumulation 5 MONDO:0010476 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 28211668 False 3 100;0;0 1.63 True ENSG00000196998 ENSG00000196998 HGNC:28912 WDR45B gene WDR45B Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures, MIM# 617977 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 21937992;28503735;27431290 False 3 100;0;0 1.63 True ENSG00000141580 ENSG00000141580 HGNC:25072 WDR47 gene WDR47 Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Complex neurodevelopmental disorder MONDO:0100038, WDR47-related Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 39609633 False 3 100;0;0 1.63 True ENSG00000085433 ENSG00000085433 HGNC:29141 WDR5 gene WDR5 Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental disorder MONDO:0700092, WDR5-related Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 36408368 False 3 100;0;0 1.63 True Other ENSG00000196363 ENSG00000196363 HGNC:12757 WDR62 gene WDR62 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Microcephaly 2, primary, autosomal recessive, with or without cortical malformations, MIM# 604317;MONDO:0011435 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 20890279;20729831;20890278;21496009;21834044;22775483;32677750;31788460 False 3 100;0;0 1.63 True ENSG00000075702 ENSG00000075702 HGNC:24502 WDR73 gene WDR73 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Galloway-Mowat syndrome 1 MONDO:0033005 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 26123727 False 3 100;0;0 1.63 True ENSG00000177082 ENSG00000177082 HGNC:25928 WDR81 gene WDR81 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2, 610185;Hydrocephalus, congenital, 3, with brain anomalies, 617967 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 21885617;28556411;28969387 False 3 100;0;0 1.63 True ENSG00000167716 ENSG00000167716 HGNC:26600 WDR83OS gene WDR83OS Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with variable familial hypercholanemia, MIM# 621016 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 39471804;30250217 False 3 100;0;0 1.63 True ENSG00000105583 ENSG00000105583 HGNC:30203 WIPI2 gene WIPI2 Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Intellectual developmental disorder with short stature and variable skeletal anomalies 618453;global developmental delay;intellectual disability;refractory infantile/childhood-onset epilepsy;progressive tetraplegia with joint contractures;dyskinesia;speech and visual impairment;autistic features;ataxic gait Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 30968111;34557665 False 3 50;0;50 1.63 True ENSG00000157954 ENSG00000157954 HGNC:32225 WNK3 gene WNK3 Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Prieto syndrome, MIM# 309610 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 35678782 False 3 100;0;0 1.63 True ENSG00000196632 ENSG00000196632 HGNC:14543 WNT1 gene WNT1 Expert list;Expert Review Green Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Osteogenesis imperfecta, type XV;OMIM# 615220 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 3 100;0;0 1.63 True ENSG00000125084 ENSG00000125084 HGNC:12774 WNT5A gene WNT5A Expert list;Expert Review Green Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Robinow syndrome, autosomal dominant 1;OMIM# 180700 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 3 100;0;0 1.63 True ENSG00000114251 ENSG00000114251 HGNC:12784 WWOX gene WWOX Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal developmental and epileptic encephalopathy, 28 MONDO:0014533;autosomal recessive spinocerebellar ataxia 12 MONDO:0013687 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 25411445;24369382 False 3 100;0;0 1.63 True ENSG00000186153 ENSG00000186153 HGNC:12799 XPA gene XPA Expert list;Expert Review Green Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Xeroderma pigmentosum, group A;OMIM# 278700 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 26302748;25566891;24135642 False 3 100;0;0 1.63 True ENSG00000136936 ENSG00000136936 HGNC:12814 XRCC4 gene XRCC4 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Short stature, microcephaly, and endocrine dysfunction MIM#616541, MONDO:0014686 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 25728776;25872942;25839420;18695064 False 3 100;0;0 1.63 True ENSG00000152422 ENSG00000152422 HGNC:12831 XYLT1 gene XYLT1 Expert list;Expert Review Green Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Desbuquois dysplasia 2, MIM# 615777;Baratela-Scott syndrome Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 PubMed: 24581741;22711505;23982343 False 3 100;0;0 1.63 True ENSG00000103489 ENSG00000103489 HGNC:15516 YARS gene YARS Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Infantile-onset multisystem neurologic, endocrine, and pancreatic disease 2, MIM# 619418 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 30304524;29232904;27633801 False 3 100;0;0 1.63 True ENSG00000134684 ENSG00000134684 HGNC:12840 YIF1B gene YIF1B Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Kaya-Barakat-Masson syndrome, MIM# 619125;Central hypotonia;Failure to thrive;Microcephaly;Global developmental delay;Intellectual disability;Seizures;Spasticity;Abnormality of movement Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 32006098 False 3 100;0;0 1.63 True ENSG00000167645 ENSG00000167645 HGNC:30511 YWHAE gene YWHAE Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental disorder, MONDO:0700092 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 36999555 False 3 100;0;0 1.63 True ENSG00000108953 ENSG00000108953 HGNC:12851 YWHAG gene YWHAG Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Developmental and epileptic encephalopathy 56, (MIMI#617665) Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 33393734;33590706;31926053;33767733 False 3 100;0;0 1.63 True ENSG00000170027 ENSG00000170027 HGNC:12852 YY1 gene YY1 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Gabriele-de Vries syndrome, OMIM #617557 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 28575647 False 3 100;0;0 1.63 True ENSG00000100811 ENSG00000100811 HGNC:12856 ZBTB11 gene ZBTB11 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Intellectual developmental disorder, autosomal recessive 69;OMIM #618383 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 29893856 False 3 50;50;0 1.63 True ENSG00000066422 ENSG00000066422 HGNC:16740 ZBTB18 gene ZBTB18 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Mental retardation, autosomal dominant 22, MIM# 612337;Intellectual disability;microcephaly;corpus callosum abnormalities Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 29573576 False 3 100;0;0 1.63 True ENSG00000179456 ENSG00000179456 HGNC:13030 ZBTB20 gene ZBTB20 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Primrose syndrome, MIM# 259050 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 25017102;27061120;30256248 False 3 100;0;0 1.63 True ENSG00000181722 ENSG00000181722 HGNC:13503 ZBTB24 gene ZBTB24 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Immunodeficiency-centromeric instability-facial anomalies syndrome 2;OMIM # 614069 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 21906047;21596365;23486536 False 3 100;0;0 1.63 True ENSG00000112365 ENSG00000112365 HGNC:21143 ZBTB47 gene ZBTB47 Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Neurodevelopmental disorder (MONDO#0700092), ZBTB47-related Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 37743782 False 3 100;0;0 1.63 True ENSG00000114853 ENSG00000114853 HGNC:26955 ZBTB7A gene ZBTB7A Expert list;Expert Review Green Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Macrocephaly, neurodevelopmental delay, lymphoid hyperplasia, and persistent fetal hemoglobin (MIM#619769) Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 34515416;31645653 False 3 100;0;0 1.63 True ENSG00000178951 ENSG00000178951 HGNC:18078 ZC4H2 gene ZC4H2 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Wieacker-Wolff syndrome, MIM# 314580 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 23623388;34322088;33949289;31885220;31206972 False 3 100;0;0 1.63 True ENSG00000126970 ENSG00000126970 HGNC:24931 ZDHHC9 gene ZDHHC9 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Syndromic X-linked intellectual disability Raymond type MONDO:0010427 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 17436253 False 3 100;0;0 1.63 True ENSG00000188706 ENSG00000188706 HGNC:18475 ZEB2 gene ZEB2 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Mowat-Wilson syndrome, MIM# 235730;MONDO:0009341 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 29300384 False 3 100;0;0 1.63 True ENSG00000169554 ENSG00000169554 HGNC:14881 ZFHX3 gene ZFHX3 Expert Review Green;Research Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental disorder, MONDO:0700092, ZFHX3-related Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 37292950;38412861 False 3 100;0;0 1.63 True ENSG00000140836 ENSG00000140836 HGNC:777 ZFHX4 gene ZFHX4 Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted neurodevelopmental disorder, ZFHX4-related (MONDO:0700092) Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 33057194;24038936;21802062 False 3 100;0;0 1.63 True ENSG00000091656 ENSG00000091656 HGNC:30939 ZFX gene ZFX Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Intellectual developmental disorder, X-linked syndromic 37, MIM# 301118 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 26350204;26740508;38325380 False 3 100;0;0 1.63 True ENSG00000005889 ENSG00000005889 HGNC:12869 ZFYVE26 gene ZFYVE26 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Spastic paraplegia 15, autosomal recessive, MIM# 270700;hereditary spastic paraplegia 15, MONDO:0010044" Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 20301682 False 3 100;0;0 1.63 True ENSG00000072121 ENSG00000072121 HGNC:20761 ZIC1 gene ZIC1 Expert list;Expert Review Green Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Structural brain anomalies with impaired intellectual development and craniosynostosis;OMIM #618736 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 PMID: 26340333, 30391508 False 3 100;0;0 1.63 True ENSG00000152977 ENSG00000152977 HGNC:12872 ZIC2 gene ZIC2 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Holoprosencephaly 5 MONDO:0012322 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 21940735 False 3 100;0;0 1.63 True ENSG00000043355 ENSG00000043355 HGNC:12873 ZMIZ1 gene ZMIZ1 Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies;OMIM #618659 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 PubMed: 30639322 False 3 100;0;0 1.63 True ENSG00000108175 ENSG00000108175 HGNC:16493 ZMYM2 gene ZMYM2 Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown "Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities, MIM# 619522" Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 32891193 False 3 50;50;0 1.63 True ENSG00000121741 ENSG00000121741 HGNC:12989 ZMYM3 gene ZMYM3 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Intellectual developmental disorder, X-linked 112, MIM# 301111 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 24721225;36586412 False 3 67;0;33 1.63 True ENSG00000147130 ENSG00000147130 HGNC:13054 ZMYND11 gene ZMYND11 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Mental retardation, autosomal dominant 30, MIM# 616083 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 32097528 False 3 100;0;0 1.63 True ENSG00000015171 ENSG00000015171 HGNC:16966 ZMYND8 gene ZMYND8 Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental disorder, MONDO:0700092, ZMYND8-related;Delayed speech and language development;Motor delay;Intellectual disability;Abnormality of cardiovascular system morphology;Hearing abnormality;Abnormality of vision;Abnormality of the face;Seizures Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 35916866;32530565 False 3 100;0;0 1.63 True ENSG00000101040 ENSG00000101040 HGNC:9397 ZNF142 gene ZNF142 Expert list;Expert Review Green Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with impaired speech and hyperkinetic movements, MIM#618425 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 31036918 False 3 100;0;0 1.63 True ENSG00000115568 ENSG00000115568 HGNC:12927 ZNF148 gene ZNF148 Expert list;Expert Review Green Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies;OMIM #617260 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 PMID: 27964749 False 3 100;0;0 1.63 True ENSG00000163848 ENSG00000163848 HGNC:12933 ZNF292 gene ZNF292 Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Intellectual developmental disorder, autosomal dominant 64 MIM#619188" Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 PMID: 31723249 False 3 100;0;0 1.63 True ENSG00000188994 ENSG00000188994 HGNC:18410 ZNF335 gene ZNF335 Expert list;Expert Review Green Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Microcephaly 10, primary, autosomal recessive;OMIM #615095 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 PubMed: 23178126;27540107;29652087 False 3 100;0;0 1.63 True ENSG00000198026 ENSG00000198026 HGNC:15807 ZNF462 gene ZNF462 Expert list;Expert Review Green Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Weiss-Kruszka syndrome, OMIM# 618619 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 31361404;28513610 False 3 100;0;0 1.63 True ENSG00000148143 ENSG00000148143 HGNC:21684 ZNF526 gene ZNF526 Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Dentici-Novelli neurodevelopmental syndrome, MIM# 619877 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 21937992;25558065;33397746 False 3 100;0;0 1.63 True ENSG00000167625 ENSG00000167625 HGNC:29415 ZNF699 gene ZNF699 Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "DEGCAGS syndrome, MIM# 619488" Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 33875846 False 3 100;0;0 1.63 True ENSG00000196110 ENSG00000196110 HGNC:24750 ZNF711 gene ZNF711 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Intellectual developmental disorder, X-linked 97, MIM# 300803 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 27993705;19377476 False 3 100;0;0 1.63 True ENSG00000147180 ENSG00000147180 HGNC:13128 ZNHIT3 gene ZNHIT3 Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal PEHO syndrome, MIM# 260565 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 28335020;28335020;31048081 False 3 100;0;0 1.63 True ENSG00000108278 ENSG00000273611 HGNC:12309 ZNRF3 gene ZNRF3 Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Complex neurodevelopmental disorder MONDO:0100038 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 39168120 False 3 100;0;0 1.63 True ENSG00000183579 ENSG00000183579 HGNC:18126 ZRSR2 gene ZRSR2 Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Orofaciodigital syndrome XXI, MIM# 301132 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 PMID: 38158857 False 3 100;0;0 1.63 True ENSG00000169249 ENSG00000169249 HGNC:23019 ZSCAN10 gene ZSCAN10 Expert Review Green;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Syndromic disease MONDO:0002254 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 PMID: 38386308 False 3 100;0;0 1.63 True ENSG00000130182 ENSG00000130182 HGNC:12997 ZSWIM6 gene ZSWIM6 Expert Review Green;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features, MIM#617865 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 29198722 False 3 100;0;0 1.63 True ENSG00000130449 ENSG00000130449 HGNC:29316 AASS gene AASS Expert Review Amber;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Hyperlysinemia, MIM# 238700 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 23570448 False 2 0;100;0 1.63 True ENSG00000008311 ENSG00000008311 HGNC:17366 ACACA gene ACACA Expert Review Amber;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Acetyl-CoA carboxylase deficiency, MIM# 613933 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 34552920;10677481;16717184;36709796 False 2 0;100;0 1.63 True ENSG00000132142 ENSG00000278540 HGNC:84 ACADS gene ACADS Expert Review Amber;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Acyl-CoA dehydrogenase, short-chain, deficiency of, MIM# 201470 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 2 0;100;0 1.63 True ENSG00000122971 ENSG00000122971 HGNC:90 ACADSB gene ACADSB Expert Review Amber;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal 2-methylbutyrylglycinuria, MIM# 610006 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 2 0;100;0 1.63 True ENSG00000196177 ENSG00000196177 HGNC:91 ACAT1 gene ACAT1 Expert Review Amber;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Alpha-methylacetoacetic aciduria, MIM# 203750 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 2 0;100;0 1.63 True ENSG00000075239 ENSG00000075239 HGNC:93 ADCY5 gene ADCY5 Expert Review Amber;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with hyperkinetic movements and dyskinesia (NEDHYD), MIM#619651 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 22782511;24700542;33051786;32647899;33704598;34631954;28971144;30975617 False 2 0;100;0 1.63 True ENSG00000173175 ENSG00000173175 HGNC:236 AGPAT3 gene AGPAT3 Expert Review Amber;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder (MONDO#0700092), AGPAT3-related Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 PMID: 37821758 False 2 100;0;0 1.63 True ENSG00000160216 ENSG00000160216 HGNC:326 AKAP6 gene AKAP6 Expert Review Amber;Genetic Health Queensland;Victorian Clinical Genetics Services Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental disorder, MONDO:0700092, AKAP6-related Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 28600779 False 2 0;100;0 1.63 True ENSG00000151320 ENSG00000151320 HGNC:376 ALDOA gene ALDOA Expert Review Amber;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Glycogen storage disease XII, MIM#611881 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 2 0;100;0 1.63 True ENSG00000149925 ENSG00000149925 HGNC:414 ALX1 gene ALX1 Expert Review Amber;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Frontonasal dysplasia 3, MIM#613456 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 27324866;20451171;23059813 False 2 0;100;0 1.63 True ENSG00000180318 ENSG00000180318 HGNC:1494 ALX3 gene ALX3 Expert Review Amber;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Frontonasal dysplasia 1, MIM#136760 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 19409524 False 2 0;100;0 1.63 True ENSG00000156150 ENSG00000156150 HGNC:449 ALX4 gene ALX4 Expert Review Amber;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Frontonasal dysplasia 2, MIM# 613451 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 19409524 False 2 0;100;0 1.63 True ENSG00000052850 ENSG00000052850 HGNC:450 ANAPC7 gene ANAPC7 Expert Review Amber;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Ferguson-Bonni neurodevelopmental syndrome, MIM# 619699" Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 34942119 False 2 0;100;0 1.63 True ENSG00000196510 ENSG00000196510 HGNC:17380 AP2S1 gene AP2S1 Expert Review Amber;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Developmental disorder Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 33057194 False 2 0;100;0 1.63 True ENSG00000042753 ENSG00000042753 HGNC:565 AQP4 gene AQP4 Expert Review Amber;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Megalencephalic leukoencephalopathy with subcortical cysts 4, remitting MIM#620448 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 37143309 False 2 0;100;0 1.63 True ENSG00000171885 ENSG00000171885 HGNC:637 ARHGAP31 gene ARHGAP31 Expert Review Amber;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Adams-Oliver syndrome 1, MIM#100300 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 2 0;100;0 1.63 True ENSG00000031081 ENSG00000031081 HGNC:29216 ARHGEF40 gene ARHGEF40 Expert Review Amber;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental disorder MONDO:0700092 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 PMID: 39838643 False 2 0;50;50 1.63 True ENSG00000165801 ENSG00000165801 HGNC:25516 ARNT2 gene ARNT2 Expert Review Amber;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Webb-Dattani syndrome 615926 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 24022475 False 2 0;100;0 1.63 True ENSG00000172379 ENSG00000172379 HGNC:16876 ASTN2 gene ASTN2 Expert Review Amber;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Neurodevelopmental disorder, MONDO:0700092, ASTN2-related Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 28940097;34412080;27138430 False 2 0;100;0 1.63 True ENSG00000148219 ENSG00000148219 HGNC:17021 ATAD2B gene ATAD2B Expert Review Amber;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal neurodevelopmental disorder MONDO:0700092, ATAD2B-related Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 39313616 False 2 0;100;0 1.63 True ENSG00000119778 ENSG00000119778 HGNC:29230 ATM gene ATM Expert Review Amber;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders Unknown Ataxia-telangiectasia, MIM#208900 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 2 0;100;0 1.63 True ENSG00000149311 ENSG00000149311 HGNC:795 ATP11A gene ATP11A Expert Review Amber;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Leukodystrophy, hypomyelinating, 24 , MIM# 619851 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 PMID: 34403372 False 2 0;100;0 1.63 True Other ENSG00000068650 ENSG00000068650 HGNC:13552 ATP13A2 gene ATP13A2 Expert Review Amber;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Kufor-Rakeb syndrome, MIM# 606693 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 2 0;100;0 1.63 True ENSG00000159363 ENSG00000159363 HGNC:30213 ATP5E gene ATP5E Expert Review Amber;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex V (ATP synthase) deficiency, nuclear type 3 MIM#614053 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 34954817;20566710;27626380;20026007 False 2 0;100;0 1.63 True ENSG00000124172 ENSG00000124172 HGNC:838 ATXN2L gene ATXN2L Expert Review Amber;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted macrocephaly;intellectual disability Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 33283965;33057194 False 2 0;100;0 1.63 True ENSG00000168488 ENSG00000168488 HGNC:31326 B3GALT6 gene B3GALT6 Expert Review Amber;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Ehlers-Danlos syndrome, spondylodysplastic type, 2, MIM#615349;Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures, MIM#271640 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 2 0;100;0 1.63 True ENSG00000176022 ENSG00000176022 HGNC:17978 B9D1 gene B9D1 Expert Review Amber;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 27, MIM#617120;Meckel syndrome 9, MIM#614209 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 24886560;21493627 False 2 50;50;0 1.63 True ENSG00000108641 ENSG00000108641 HGNC:24123 BAZ2B gene BAZ2B Expert Review Amber;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Intellectual disability;autism Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 31999386 False 2 50;50;0 1.63 True ENSG00000123636 ENSG00000123636 HGNC:963 BBIP1 gene BBIP1 Expert Review Amber;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Bardet-Biedl syndrome 18, MIM#615995 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 24026985 False 2 0;100;0 1.63 True ENSG00000214413 ENSG00000214413 HGNC:28093 BCORL1 gene BCORL1 Expert Review Amber;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Shukla-Vernon syndrome, MIM#301029 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 24123876;30941876 False 2 100;0;0 1.63 True ENSG00000085185 ENSG00000085185 HGNC:25657 BRIP1 gene BRIP1 Expert Review Amber;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Fanconi anaemia, complementation group J, MIM# 609054 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 2 0;100;0 1.63 True ENSG00000136492 ENSG00000136492 HGNC:20473 BUB1 gene BUB1 Expert Review Amber;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Primary microcephaly-30 (MCPH30), MIM#620183 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 35044816;19772675;19117986;23209306 False 2 50;50;0 1.63 True ENSG00000169679 ENSG00000169679 HGNC:1148 C8orf37 gene C8orf37 Expert list;Expert Review Amber Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Bardet-Biedl syndrome 21, MIM#617406 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 26854863;27008867 False 2 0;100;0 1.63 True ENSG00000156172 ENSG00000156172 HGNC:27232 CACNB4 gene CACNB4 Expert Review Amber;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal intellectual disability;psychomotor retardation;blindness;epilepsy;movement disorder;cerebellar atrophy Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 32176688 False 2 0;100;0 1.63 True ENSG00000182389 ENSG00000182389 HGNC:1404 CAMK2G gene CAMK2G Expert Review;Expert Review Amber Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Mental retardation, autosomal dominant 59, MIM# 618522" Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 30184290;23033978 False 2 0;100;0 1.63 True Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000148660 ENSG00000148660 HGNC:1463 CCDC174 gene CCDC174 Expert Review Amber;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Hypotonia, infantile, with psychomotor retardation - IHPMR, 616816 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 26358778 False 2 0;100;0 1.63 True Other ENSG00000154781 ENSG00000154781 HGNC:28033 CCDC78 gene CCDC78 Expert Review Amber;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Centronuclear myopathy 4, MIM#614807 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 22818856 False 2 0;100;0 1.63 True ENSG00000162004 ENSG00000162004 HGNC:14153 CCDC84 gene CCDC84 Expert Review Amber;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mosaic variegated aneuploidy syndrome 4 (MIM#620153) Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 34009673 False 2 0;100;0 1.63 True ENSG00000186166 ENSG00000186166 HGNC:30460 CD96 gene CD96 Expert Review Amber;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted C syndrome, MIM#211750 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 17847009 False 2 0;100;0 1.63 True ENSG00000153283 ENSG00000153283 HGNC:16892 CDK6 gene CDK6 Expert Review Amber;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Microcephaly 12, primary, autosomal recessive, MIM#616080 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 23918663 False 2 0;100;0 1.63 True ENSG00000105810 ENSG00000105810 HGNC:1777 CDKN1C gene CDKN1C Expert Review Amber;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted IMAGE syndrome, MIM# 614732 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 2 0;100;0 1.63 True ENSG00000129757 ENSG00000129757 HGNC:1786 CEP63 gene CEP63 Expert Review Amber;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Seckel syndrome 6, MIM#614728 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 21983783;26158450 False 2 0;100;0 1.63 True ENSG00000182923 ENSG00000182923 HGNC:25815 CEP89 gene CEP89 Expert Review Amber;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex IV deficiency Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 23575228 False 2 0;100;0 1.63 True ENSG00000121289 ENSG00000121289 HGNC:25907 CHMP3 gene CHMP3 Expert Review Amber;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Hereditary spastic paraplegia (MONDO:0019064), CHMP3-related Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 PMID: 35710109 False 2 0;100;0 1.63 True ENSG00000115561 ENSG00000115561 HGNC:29865 CHRM1 gene CHRM1 Expert Review Amber;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental delay;intellectual disability;autism Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 34212451;31981491;12483218 False 2 0;100;0 1.63 True ENSG00000168539 ENSG00000168539 HGNC:1950 CHST14 gene CHST14 Expert Review Amber;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Ehlers-Danlos syndrome, musculocontractural type 1, MIM#601776 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 25703627 False 2 0;100;0 1.63 True ENSG00000169105 ENSG00000169105 HGNC:24464 CLCN2 gene CLCN2 Expert Review Amber;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Leukoencephalopathy with ataxia, MIM#615651 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 23707145 False 2 0;100;0 1.63 True ENSG00000114859 ENSG00000114859 HGNC:2020 CLCN7 gene CLCN7 Expert Review Amber;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hypopigmentation, organomegaly, and delayed myelination and development, MIM# 618541 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 31155284 False 2 0;100;0 1.63 True Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000103249 ENSG00000103249 HGNC:2025 CNKSR1 gene CNKSR1 Expert Review;Expert Review Amber Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder, MONDO:0700092, CNKSR1-related Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 30450701;30237576;21937992 False 2 0;100;0 1.63 True ENSG00000142675 ENSG00000142675 HGNC:19700 COG3 gene COG3 Expert list;Expert Review Amber Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type IIbb, MIM# 620546 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 PMID: 37711075 False 2 0;100;0 1.63 True ENSG00000136152 ENSG00000136152 HGNC:18619 COPB1 gene COPB1 Expert Review Amber;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Baralle-Macken syndrome, MIM# 619255;Severe intellectual disability;variable microcephaly;cataracts Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 33632302 False 2 0;100;0 1.63 True ENSG00000129083 ENSG00000129083 HGNC:2231 COQ2 gene COQ2 Expert Review Amber;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Coenzyme Q10 deficiency, primary, 1, MIM#607426 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 2 0;100;0 1.63 True ENSG00000173085 ENSG00000173085 HGNC:25223 COQ9 gene COQ9 Expert Review Amber;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Coenzyme Q10 deficiency, primary, 5, MIM#614654 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 2 0;100;0 1.63 True ENSG00000088682 ENSG00000088682 HGNC:25302 COX14 gene COX14 Expert Review Amber;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex IV deficiency, nuclear type 10, MIM#619053 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 22243966 False 2 0;100;0 1.63 True ENSG00000178449 ENSG00000178449 HGNC:28216 COX20 gene COX20 Expert Review Amber;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex IV deficiency, MIM#220110 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 31079202;30656193;24202787 False 2 0;0;100 1.63 True ENSG00000203667 ENSG00000203667 HGNC:26970 COX7B gene COX7B Expert Review Amber;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders Unknown Linear skin defects with multiple congenital anomalies 2, MIM#300887 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 23122588 False 2 0;100;0 1.63 True ENSG00000131174 ENSG00000131174 HGNC:2291 CRBN gene CRBN Expert Review Amber;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders Unknown Mental retardation, autosomal recessive 2, MIM# 607417 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 15557513;28143899 False 2 0;100;0 1.63 True ENSG00000113851 ENSG00000113851 HGNC:30185 CSF1R gene CSF1R Expert Review Amber;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Brain abnormalities, neurodegeneration, and dysosteosclerosis, MIM# 618476;BANDDOS Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 30982609;33749994;34135456 False 2 0;100;0 1.63 True ENSG00000182578 ENSG00000182578 HGNC:2433 CSTF2 gene CSTF2 Expert Review Amber;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Intellectual developmental disorder, X-linked 113, MIM# 301116 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 32816001 False 2 0;100;0 1.63 True ENSG00000101811 ENSG00000101811 HGNC:2484 CTC1 gene CTC1 Expert Review Amber;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Cerebroretinal microangiopathy with calcifications and cysts, MIM# 612199 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 2 0;100;0 1.63 True ENSG00000178971 ENSG00000178971 HGNC:26169 CTNND1 gene CTNND1 Expert Review Amber;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Blepharocheilodontic syndrome 2, MIM# 617681 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 28301459;32196547 False 2 0;100;0 1.63 True ENSG00000198561 ENSG00000198561 HGNC:2515 CTNND2 gene CTNND2 Expert Review Amber;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental disorder, MONDO:0700092, CTNND2-related Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 25839933;29127138;25807484 False 2 0;100;0 1.63 True ENSG00000169862 ENSG00000169862 HGNC:2516 DCAF15 gene DCAF15 Expert Review Amber;Other Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Cornelia de Lange syndrome, MONDO:0016033, DCAF15-related Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 2 0;100;0 1.63 True ENSG00000132017 ENSG00000132017 HGNC:25095 DDOST gene DDOST Expert Review Amber;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type Ir, MIM# 614507 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 22305527 False 2 0;100;0 1.63 True ENSG00000244038 ENSG00000244038 HGNC:2728 DHTKD1 gene DHTKD1 Expert Review Amber;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal 2-aminoadipic 2-oxoadipic aciduria MIM#204750;Disorders of histidine, tryptophan or lysine metabolism Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 23141293;37499576;1112064;6434826;4442872;4430147 False 2 0;100;0 1.63 True ENSG00000181192 ENSG00000181192 HGNC:23537 DHX32 gene DHX32 Expert Review Amber;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental disorder, MONDO:0700092, DHX32-related Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 PMID: 32989326 False 2 0;100;0 1.63 True ENSG00000089876 ENSG00000089876 HGNC:16717 DLAT gene DLAT Expert Review Amber;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Pyruvate dehydrogenase E2 deficiency, MIM#245348 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 2 0;100;0 1.63 True ENSG00000150768 ENSG00000150768 HGNC:2896 DLG2 gene DLG2 Expert Review Amber;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Intellectual disability (MONDO#0001071), DLG2-related Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 PMID: 37860969 False 2 0;100;0 1.63 True ENSG00000150672 ENSG00000150672 HGNC:2901 DPH2 gene DPH2 Expert Review Amber;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Developmental delay with short stature, dysmorphic facial features, and sparse hair 2, MIM# 620062;Diphthamide-deficiency syndrome Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 32576952;27421267 False 2 0;100;0 1.63 True ENSG00000132768 ENSG00000132768 HGNC:3004 DPYD gene DPYD Expert Review Amber;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Dihydropyrimidine dehydrogenase deficiency (MIM#274270) Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 10071185;25565930;30349988;28275972;17065071;21114665;22003227;28123791 False 2 0;100;0 1.63 True ENSG00000188641 ENSG00000188641 HGNC:3012 DPYSL2 gene DPYSL2 Expert Review Amber;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown intellectual disability, MONDO:0001071, DPYSL2-related Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 27249678;35861646 False 2 0;100;0 1.63 True ENSG00000092964 ENSG00000092964 HGNC:3014 DROSHA gene DROSHA Expert Review Amber;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Neurodevelopmental disorder (MONDO#0700092), DROSHA-related Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 35405010 False 2 0;100;0 1.63 True ENSG00000113360 ENSG00000113360 HGNC:17904 DSCAM gene DSCAM Expert Review Amber;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Autism;ID Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 PMID: 27824329;28191889;21904980 False 2 100;0;0 1.63 True ENSG00000171587 ENSG00000171587 HGNC:3039 EEF1D gene EEF1D Expert Review Amber;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder MONDO:0700092, EEF1D-related Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 30787422;28097321 False 2 0;100;0 1.63 True ENSG00000104529 ENSG00000104529 HGNC:3211 EIF2A gene EIF2A Expert Review Amber;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Intellectual disability, epilepsy Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 PMID: 31130284 False 2 0;100;0 1.63 True ENSG00000144895 ENSG00000144895 HGNC:3254 EIF3I gene EIF3I Expert Review Amber;Other Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted complex neurodevelopmental disorder MONDO:0100038 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 2 0;100;0 1.63 True ENSG00000084623 ENSG00000084623 HGNC:3272 EMG1 gene EMG1 Expert list;Expert Review Amber Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Bowen-Conradi syndrome, MIM#211180 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 19463982 False 2 0;100;0 1.63 True ENSG00000126749 ENSG00000126749 HGNC:16912 EMX2 gene EMX2 Expert Review Amber;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Schizencephaly, MIM# 269160 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 8528262;9359037;9153481;9153481;18409201 False 2 0;100;0 1.63 True ENSG00000170370 ENSG00000170370 HGNC:3341 EPHA7 gene EPHA7 Expert Review Amber;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental disorder MONDO:0700092,EPHA7-related Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 34176129 False 2 0;100;0 1.63 True ENSG00000135333 ENSG00000135333 HGNC:3390 ERBB4 gene ERBB4 Expert Review Amber;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Intellectual disability Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 33603162 False 2 100;0;0 1.63 True ENSG00000178568 ENSG00000178568 HGNC:3432 ERGIC3 gene ERGIC3 Expert Review Amber;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Intellectual disability Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 33710394;31585110 False 2 0;100;0 1.63 True ENSG00000125991 ENSG00000125991 HGNC:15927 EXOC2 gene EXOC2 Expert Review Amber;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with dysmorphic facies and cerebellar hypoplasia, MIM# 619306;Global developmental delay;Intellectual disability;Abnormality of the face;Abnormality of brain morphology Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 32639540 False 2 0;100;0 1.63 True ENSG00000112685 ENSG00000112685 HGNC:24968 EXOSC2 gene EXOSC2 Expert list;Expert Review Amber Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Short stature, hearing loss, retinitis pigmentosa, and distinctive facies, MIM# 617763 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 26843489;31628467 False 2 100;0;0 1.63 True ENSG00000130713 ENSG00000130713 HGNC:17097 FANCB gene FANCB Expert Review Amber;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Fanconi anemia, complementation group B, MIM# 300514 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 2 0;100;0 1.63 True ENSG00000181544 ENSG00000181544 HGNC:3583 FANCD2 gene FANCD2 Expert Review Amber;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Fanconi anemia, complementation group D2, MIM# 227646" Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 2 0;100;0 1.63 True ENSG00000144554 ENSG00000144554 HGNC:3585 FANCG gene FANCG Expert Review Amber;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Fanconi anemia, complementation group G, MIM# 614082 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 2 0;100;0 1.63 True ENSG00000221829 ENSG00000221829 HGNC:3588 FGFR2 gene FGFR2 Expert Review Amber;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis, MIM# 207410;Apert syndrome, MIM# 101200 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 2 0;100;0 1.63 True ENSG00000066468 ENSG00000066468 HGNC:3689 FIBP gene FIBP Expert Review Amber;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Thauvin-Robinet-Faivre syndrome, MIM#617107 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 26660953;27183861 False 2 0;100;0 1.63 True ENSG00000172500 ENSG00000172500 HGNC:3705 FICD gene FICD Expert Review Amber;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder, FICD-related (MONDO#0700092) Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 36704923 False 2 0;100;0 1.63 True ENSG00000198855 ENSG00000198855 HGNC:18416 FKBP4 gene FKBP4 Expert Review Amber;Other Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal complex neurodevelopmental disorder MONDO:0100038 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 2 0;100;0 1.63 True ENSG00000004478 ENSG00000004478 HGNC:3720 FOXR1 gene FOXR1 Expert Review Amber;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Postnatal microcephaly, progressive brain atrophy and global developmental delay Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 34723967 False 2 0;100;0 1.63 True ENSG00000176302 ENSG00000176302 HGNC:29980 FRMD4A gene FRMD4A Expert Review;Expert Review Amber Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Intellectual disability;microcephaly;Corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia, MIM# 616819 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 25388005;30214071 False 2 0;100;0 1.63 True ENSG00000151474 ENSG00000151474 HGNC:25491 FRY gene FRY Expert Review Amber;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Intellectual disability;no OMIM number yet Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 PMID: 31487712;27457812;21937992 False 2 0;100;0 1.63 True ENSG00000073910 ENSG00000073910 HGNC:20367 FTCD gene FTCD Expert Review Amber;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Glutamate formiminotransferase deficiency MIM#229100 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 http://iembase.com/disorder/47;29178637;30740726 False 2 0;100;0 1.63 True ENSG00000160282 ENSG00000160282 HGNC:3974 GBA gene GBA Expert Review Amber;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Gaucher disease, type II 230900 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 2 0;100;0 1.63 True ENSG00000177628 ENSG00000177628 HGNC:4177 GLYCTK gene GLYCTK Expert Review Amber;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal D-glyceric aciduria MONDO:0009070 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 31837836;3588091;30637540;28462797;20949620;28190537 False 2 0;100;0 1.63 True ENSG00000168237 ENSG00000168237 HGNC:24247 GMNN gene GMNN Expert list;Expert Review Amber Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Meier-Gorlin syndrome 6, MIM# 616835" Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 26637980 False 2 0;100;0 1.63 True ENSG00000112312 ENSG00000112312 HGNC:17493 GNAI2 gene GNAI2 Expert Review Amber;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Syndromic intellectual disability Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 31036916 False 2 0;100;0 1.63 True ENSG00000114353 ENSG00000114353 HGNC:4385 GNAQ gene GNAQ Expert Review Amber;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders Unknown Sturge-Weber syndrome, somatic, mosaic, MIM#185300 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 2 0;100;0 1.63 True ENSG00000156052 ENSG00000156052 HGNC:4390 GORAB gene GORAB Expert Review Amber;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Geroderma osteodysplasticum, MIM#231070 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 2 0;100;0 1.63 True ENSG00000120370 ENSG00000120370 HGNC:25676 GPHN gene GPHN Expert Review Amber;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Molybdenum cofactor deficiency C, MIM#615501 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 11095995;22040219;26613940;24561070;23393157 False 2 0;100;0 1.63 True ENSG00000171723 ENSG00000171723 HGNC:15465 GPN2 gene GPN2 Expert Review Amber;Other Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal complex neurodevelopmental disorder MONDO:0100038;Perrault syndrome Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 2 0;100;0 1.63 True ENSG00000142751 ENSG00000142751 HGNC:25513 GSX2 gene GSX2 Expert Review Amber;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Diencephalic-mesencephalic junction dysplasia syndrome 2 618646;Intellectual disability;Dystonia;Spastic tetra paresis" Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 31412107 False 2 0;100;0 1.63 True ENSG00000180613 ENSG00000180613 HGNC:24959 GTF2E2 gene GTF2E2 Expert Review Amber;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Trichothiodystrophy 6, nonphotosensitive, MIM# 616943;MONDO:0014841 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 PMID: 28973399 False 2 0;100;0 1.63 True ENSG00000197265 ENSG00000197265 HGNC:4651 HARS gene HARS Expert Review Amber;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal multisystem ataxic syndrome;mild-severe intellectual disability Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 32333447 False 2 0;100;0 1.63 True ENSG00000170445 ENSG00000170445 HGNC:4816 HAX1 gene HAX1 Expert Review Amber;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Neutropenia, severe congenital 3, autosomal recessive, MIM# 610738 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 2 0;100;0 1.63 True ENSG00000143575 ENSG00000143575 HGNC:16915 HCN2 gene HCN2 Expert Review Amber;Other Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Neurodevelopmental disorder (MONDO#0700092), HCN2-related Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 2 0;100;0 1.63 True ENSG00000099822 ENSG00000099822 HGNC:4846 HEATR3 gene HEATR3 Expert Review Amber;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Bone marrow failure, short stature, facial and acromelic dysmorphic features, and mild intellectual disability;Diamond-Blackfan anaemia 21, MIM# 620072 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 PMID: 35213692 False 2 0;100;0 1.63 True ENSG00000155393 ENSG00000155393 HGNC:26087 HEATR5B gene HEATR5B Expert Review Amber;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal pontocerebellar hypoplasia;intellectual disability;seizures Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 33824466 False 2 0;100;0 1.63 True ENSG00000008869 ENSG00000008869 HGNC:29273 HIST1H4D gene HIST1H4D Expert Review Amber;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Neurodevelopmental disorder, HIST1H4D-related MONDO:0700092 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 35202563 False 2 0;100;0 1.63 True - - HGNC:4782 HIST1H4F gene HIST1H4F Expert Review Amber;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Neurodevelopmental disorder, MONDO:0700092, HIST1H4F-related Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 PMID: 35202563 False 2 0;100;0 1.63 True - - HGNC:4783 HIST1H4J gene HIST1H4J Expert Review Amber;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Tessadori-van Haaften neurodevelopmental syndrome 2 , MIM# 619759 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 31804630;35202563 False 2 0;100;0 1.63 True ENSG00000197238 ENSG00000197238 HGNC:4785 HSPA9 gene HSPA9 Expert Review Amber;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Even-plus syndrome, OMIM 616854;skeletal anomalies;congenital cardiac and renal anom Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 32869452;26598328 False 2 0;100;0 1.63 True ENSG00000113013 ENSG00000113013 HGNC:5244 HTT gene HTT Expert list;Expert Review Amber Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Lopes-Maciel-Rodan syndrome, 617435;LOMARS;Intellectual disability Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 26740508;27329733;33432339 False 2 0;100;0 1.63 True ENSG00000197386 ENSG00000197386 HGNC:4851 HYLS1 gene HYLS1 Expert Review Amber;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Hydrolethalus syndrome, MIM#236680 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 2 0;100;0 1.63 True ENSG00000198331 ENSG00000198331 HGNC:26558 ICE1 gene ICE1 Expert Review Amber;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Intellectual disability, cerebral atrophy Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 31130284 False 2 0;100;0 1.63 True ENSG00000164151 ENSG00000164151 HGNC:29154 IMPA1 gene IMPA1 Expert Review Amber;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mental retardation, autosomal recessive 59, MIM#617323 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 26416544;30616629 False 2 0;100;0 1.63 True ENSG00000133731 ENSG00000133731 HGNC:6050 IQSEC3 gene IQSEC3 Expert Review Amber;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Intellectual disability;Fetal akinesia Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 32049026;31130284;31680123 False 2 0;100;0 1.63 True ENSG00000120645 ENSG00000120645 HGNC:29193 ITCH gene ITCH Expert Review Amber;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Autoimmune disease, multisystem, with facial dysmorphism, MIM#613385 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 20170897;31091003 False 2 0;100;0 1.63 True ENSG00000078747 ENSG00000078747 HGNC:13890 ITGA7 gene ITGA7 Expert Review Amber;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy, congenital, due to ITGA7 deficiency, MIM# 613204 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 9590299 False 2 0;100;0 1.63 True ENSG00000135424 ENSG00000135424 HGNC:6143 ITGAV gene ITGAV Expert Review Amber;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Syndromic disease, MONDO:0002254, ITGAV-related Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 39526957 False 2 0;100;0 1.63 True ENSG00000138448 ENSG00000138448 HGNC:6150 JAKMIP1 gene JAKMIP1 Expert Review Amber;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Neurodevelopmental disorder (MONDO#0700092), JAKMIP1-related Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 29158550;26627310;27799067 False 2 0;100;0 1.63 True ENSG00000152969 ENSG00000152969 HGNC:26460 JPH3 gene JPH3 Expert Review Amber;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Neurodevelopmental disorder, MONDO:0700092, JPH3-related;Intellectual disability;dystonia Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 33824468;36273396 False 2 0;50;50 1.63 True ENSG00000154118 ENSG00000154118 HGNC:14203 KCNJ1 gene KCNJ1 Expert Review Amber;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Bartter syndrome, type 2, MIM#241200 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 2 0;100;0 1.63 True ENSG00000151704 ENSG00000151704 HGNC:6255 KCNK3 gene KCNK3 Expert Review;Expert Review Amber Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental disorder, MONDO:0700092, KCNK3-related Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 33057194 False 2 50;50;0 1.63 True ENSG00000171303 ENSG00000171303 HGNC:6278 KIAA0391 gene KIAA0391 Expert Review Amber;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 54, MIM# 619737 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 PMID: 34715011 False 2 0;50;50 1.63 True ENSG00000100890 ENSG00000100890 HGNC:19958 KIF5A gene KIF5A Expert Review Amber;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Spastic paraplegia 10, autosomal dominant, MIM# 604187;inherited neurodegenerative disorder MONDO:0024237 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 18853458 False 2 0;100;0 1.63 True ENSG00000155980 ENSG00000155980 HGNC:6323 KLHL15 gene KLHL15 Expert Review Amber;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Mental retardation, X-linked 103, MIM#300982 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 25644381;24817631 False 2 0;100;0 1.63 True ENSG00000174010 ENSG00000174010 HGNC:29347 LAMC3 gene LAMC3 Expert Review Amber;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal complex neurodevelopmental disorder MONDO:0100038;Cortical malformations, occipital, MIM# 614115 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 38758065;21572413 False 2 0;50;50 1.63 True ENSG00000050555 ENSG00000050555 HGNC:6494 LEO1 gene LEO1 Expert Review Amber;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted neurodevelopmental disorder MONDO:0700092, LEO-1 related Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 38965372 False 2 0;100;0 1.63 True ENSG00000166477 ENSG00000166477 HGNC:30401 LINGO1 gene LINGO1 Expert list;Expert Review Amber Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mental retardation, autosomal recessive 64, MIM#618103 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 28837161 False 2 0;100;0 1.63 True ENSG00000169783 ENSG00000169783 HGNC:21205 LIPT2 gene LIPT2 Expert list;Expert Review Amber Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities, MIM#617668 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 28757203 False 2 0;100;0 1.63 True ENSG00000175536 ENSG00000175536 HGNC:37216 LMAN2L gene LMAN2L Expert Review Amber;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Mental retardation, autosomal recessive, 52 OMIM #616887;Intellectual developmental disorder, autosomal dominant 69 , MIM# 617863 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 PMID: 31020005;26566883 False 2 0;100;0 1.63 True ENSG00000114988 ENSG00000114988 HGNC:19263 LRRC32 gene LRRC32 Expert Review Amber;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Cleft palate, proliferative retinopathy, and developmental delay (CPPRDD) syndrome, MIM# 619074 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 30976112 False 2 0;100;0 1.63 True ENSG00000137507 ENSG00000137507 HGNC:4161 LRRC45 gene LRRC45 Expert Review Amber;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder MONDO:0700092, LRRC45-related Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 39638757 False 2 0;100;0 1.63 True ENSG00000169683 ENSG00000169683 HGNC:28302 LRRC8C gene LRRC8C Expert Review Amber;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown TIMES syndrome MIM#621056 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 39623139 False 2 0;100;0 1.63 True Other ENSG00000171488 ENSG00000171488 HGNC:25075 LYST gene LYST Expert Review Amber;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Chediak-Higashi syndrome, MIM#214500 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 2 0;100;0 1.63 True ENSG00000143669 ENSG00000143669 HGNC:1968 MAL gene MAL Expert Review Amber;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Leukodystrophy, hypomyelinating, 28, MIM# 620978 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 35217805 False 2 0;100;0 1.63 True ENSG00000172005 ENSG00000172005 HGNC:6817 MANF gene MANF Expert Review;Expert Review Amber Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Diabetes, deafness, developmental delay, and short stature syndrome, MIM# 620651 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 26077850;33500254;34815294 False 2 0;100;0 1.63 True ENSG00000145050 ENSG00000145050 HGNC:15461 MCCC1 gene MCCC1 Expert Review Amber;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal 3-Methylcrotonyl-CoA carboxylase 1 deficiency MIM#210200;Organic acidurias Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 36822454;31730530 False 2 0;100;0 1.63 True ENSG00000078070 ENSG00000078070 HGNC:6936 MCCC2 gene MCCC2 Expert Review Amber;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal 3-Methylcrotonyl-CoA carboxylase 2 deficiency (MIM#210210) Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 34899149 False 2 0;100;0 1.63 True ENSG00000131844 ENSG00000131844 HGNC:6937 MED22 gene MED22 Expert Review Amber;Other Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal complex neurodevelopmental disorder MONDO:0100038 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 2 0;100;0 1.63 True ENSG00000148297 ENSG00000148297 HGNC:11477 MGA gene MGA Expert Review Amber;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Syndromic disease, MONDO:0002254, MGA-related Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 39600096;20044811 False 2 0;100;0 1.63 True ENSG00000174197 ENSG00000174197 HGNC:14010 MKL2 gene MKL2 Expert Review Amber;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental disorder (MONDO:0700092), MKL2-related Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 PMID: 37013900 False 2 0;100;0 1.63 True Other ENSG00000186260 ENSG00000186260 HGNC:29819 MMGT1 gene MMGT1 Expert Review Amber;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental disorder MONDO:0700092, MMGT1-related Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 33057194 False 2 0;100;0 1.63 True ENSG00000169446 ENSG00000169446 HGNC:28100 MOCS3 gene MOCS3 Expert Review;Expert Review Amber Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Molybdenum cofactor deficiency MONDO:0020480 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 33897766;28544736 False 2 0;100;0 1.63 True ENSG00000124217 ENSG00000124217 HGNC:15765 MRPL3 gene MRPL3 Expert list;Expert Review Amber Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 9;OMIM #614582 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 PubMed: 27815843;21786366 False 2 0;100;0 1.63 True ENSG00000114686 ENSG00000114686 HGNC:10379 NBN gene NBN Expert Review Amber;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Nijmegen breakage syndrome, MIM# 251260 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 2 0;100;0 1.63 True ENSG00000104320 ENSG00000104320 HGNC:7652 NCAPG2 gene NCAPG2 Expert Review Amber;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Khan-Khan-Katsanis syndrome, MIM# 618460 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 30609410 False 2 50;50;0 1.63 True ENSG00000146918 ENSG00000146918 HGNC:21904 NDUFA10 gene NDUFA10 Expert Review Amber;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 22, MIM#618243 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 21150889;26741492 False 2 0;100;0 1.63 True ENSG00000130414 ENSG00000130414 HGNC:7684 NDUFA11 gene NDUFA11 Expert Review Amber;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 14, MIM#618236 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 18306244;31074871 False 2 0;100;0 1.63 True ENSG00000174886 ENSG00000174886 HGNC:20371 NDUFA8 gene NDUFA8 Expert Review Amber;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 37- 619272;Epilepsy;Microcephaly;Developmental Delay Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 32385911;33153867 False 2 0;100;0 1.63 True ENSG00000119421 ENSG00000119421 HGNC:7692 NDUFA9 gene NDUFA9 Expert Review Amber;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 26, MIM#618247 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 28671271;22114105 False 2 0;100;0 1.63 True ENSG00000139180 ENSG00000139180 HGNC:7693 NDUFAF2 gene NDUFAF2 Expert Review Amber;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 10, MIM#618233 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 18180188;20571988;19384974;16200211 False 2 0;100;0 1.63 True ENSG00000164182 ENSG00000164182 HGNC:28086 NDUFAF3 gene NDUFAF3 Expert Review Amber;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 18, MIM#618240 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 19463981 False 2 0;100;0 1.63 True ENSG00000178057 ENSG00000178057 HGNC:29918 NDUFAF4 gene NDUFAF4 Expert Review Amber;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 15, MIM#618237 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 18179882;28853723 False 2 0;100;0 1.63 True ENSG00000123545 ENSG00000123545 HGNC:21034 NDUFAF5 gene NDUFAF5 Expert Review Amber;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 16, MIM# 618238 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 19542079;21607760;18940309 False 2 0;100;0 1.63 True ENSG00000101247 ENSG00000101247 HGNC:15899 NDUFAF6 gene NDUFAF6 Expert Review Amber;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 17, MIM#618239 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 26741492;18614015 False 2 0;100;0 1.63 True ENSG00000156170 ENSG00000156170 HGNC:28625 NDUFB3 gene NDUFB3 Expert Review Amber;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 25, MIM#618246 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 22277967;22499348;27091925 False 2 0;100;0 1.63 True ENSG00000119013 ENSG00000119013 HGNC:7698 NDUFB9 gene NDUFB9 Expert Review Amber;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 24, MIM#618245 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 22200994;38129218 False 2 0;100;0 1.63 True ENSG00000147684 ENSG00000147684 HGNC:7704 NDUFS2 gene NDUFS2 Expert Review Amber;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 6, MIM#618228 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 11220739;31411514;29272804 False 2 0;100;0 1.63 True ENSG00000158864 ENSG00000158864 HGNC:7708 NDUFS3 gene NDUFS3 Expert Review Amber;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 8, MIM#618230 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 14729820;22499348;30140060 False 2 0;100;0 1.63 True ENSG00000213619 ENSG00000213619 HGNC:7710 NDUFS6 gene NDUFS6 Expert Review Amber;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 9, MIM#618232 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 15372108;19259137;30948790;22474353 False 2 0;100;0 1.63 True ENSG00000145494 ENSG00000145494 HGNC:7713 NDUFV2 gene NDUFV2 Expert Review Amber;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 7, MIM#618229 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 12754703;26008862;29554876 False 2 0;100;0 1.63 True ENSG00000178127 ENSG00000178127 HGNC:7717 NECAP1 gene NECAP1 Expert Review Amber;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Epileptic encephalopathy, early infantile, 21, MIM#615833 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 24399846;30626896;30525121 False 2 100;0;0 1.63 True ENSG00000089818 ENSG00000089818 HGNC:24539 NHP2 gene NHP2 Expert Review Amber;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Dyskeratosis congenita, autosomal recessive 2, MIM# 613987;H yeraal-Hreidarsson syndrome Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 18523010;31985013 False 2 0;100;0 1.63 True ENSG00000145912 ENSG00000145912 HGNC:14377 NMNAT1 gene NMNAT1 Expert Review Amber;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Spondyloepiphyseal dysplasia, sensorineural hearing loss, intellectual disability, and Leber congenital amaurosis (SHILCA), MIM#619260 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 32533184;33668384 False 2 0;100;0 1.63 True ENSG00000173614 ENSG00000173614 HGNC:17877 NSF gene NSF Expert Review Amber;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Developmental and epileptic encephalopathy 96, MIM# 619340;Seizures;EEG with burst suppression;Global developmental delay;Intellectual disability Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 31675180 False 2 0;100;0 1.63 True ENSG00000073969 ENSG00000073969 HGNC:8016 NUP85 gene NUP85 Expert Review Amber;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Intellectual disability Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 34170319;30179222 False 2 0;100;0 1.63 True ENSG00000125450 ENSG00000125450 HGNC:8734 OTUD7A gene OTUD7A Expert Review Amber;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with hypotonia and seizures, MIM# 620790 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 31997314;29395075;29395074;33381903 False 2 0;50;50 1.63 True ENSG00000169918 ENSG00000169918 HGNC:20718 PAX1 gene PAX1 Expert Review Amber;Literature;Radboud University Medical Center, Nijmegen Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Otofaciocervical syndrome 2, 615560 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 29681087;23851939;28657137 False 2 0;100;0 1.63 True ENSG00000125813 ENSG00000125813 HGNC:8615 PCNT gene PCNT Expert Review Amber;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Microcephalic osteodysplastic primordial dwarfism, type II MIM#210720 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 34978779 False 2 0;100;0 1.63 True ENSG00000160299 ENSG00000160299 HGNC:16068 PDCD6IP gene PDCD6IP Expert Review Amber;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Microcephaly 29, primary, autosomal recessive, MIM# 620047 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 PMID: 32286682 False 2 0;50;50 1.63 True ENSG00000170248 ENSG00000170248 HGNC:8766 PDE2A gene PDE2A Expert list;Expert Review Amber Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Paroxysmal dyskinesia;Intellectual developmental disorder with paroxysmal dyskinesia or seizures, MIM# 619150 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 32467598;32196122;29392776 False 2 50;50;0 1.63 True ENSG00000186642 ENSG00000186642 HGNC:8777 PHC1 gene PHC1 Expert Review Amber;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Microcephaly 11, primary, autosomal recessive, MIM#615414 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 23418308 False 2 0;100;0 1.63 True ENSG00000111752 ENSG00000111752 HGNC:3182 PIEZO2 gene PIEZO2 Expert Review Amber;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Marden-Walker syndrome, MIM# 248700;Arthrogryposis, distal, type 3, MIM# 114300 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 24726473 False 2 0;100;0 1.63 True ENSG00000154864 ENSG00000154864 HGNC:26270 PIGY gene PIGY Expert Review Amber;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Hyperphosphatasia with mental retardation syndrome 6, MIM# 616809 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 26293662 False 2 0;100;0 1.63 True ENSG00000255072 ENSG00000255072 HGNC:28213 PJA1 gene PJA1 Expert Review Amber;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Intellectual disability;trigonocephaly Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 32530565 False 2 0;100;0 1.63 True ENSG00000181191 ENSG00000181191 HGNC:16648 PLCH1 gene PLCH1 Expert Review Amber;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Holoprosencephaly 14, MIM# 619895 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 33820834 False 2 0;100;0 1.63 True ENSG00000114805 ENSG00000114805 HGNC:29185 PLEKHG2 gene PLEKHG2 Expert list;Expert Review Amber Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Leukodystrophy and acquired microcephaly with or without dystonia, 616763 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 26539891;24001768;26573021 False 2 0;100;0 1.63 True ENSG00000090924 ENSG00000090924 HGNC:29515 PLOD3 gene PLOD3 Expert Review Amber;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Lysyl hydroxylase 3 deficiency, MIM#612394 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 18834968;31129566;30237576;30463024 False 2 0;100;0 1.63 True ENSG00000106397 ENSG00000106397 HGNC:9083 PLXNA2 gene PLXNA2 Expert Review Amber;Literature;Other Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Intellectual disability;Abnormality of the face;Failure to thrive;Abnormal heart morphology Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 34327814 False 2 0;100;0 1.63 True ENSG00000076356 ENSG00000076356 HGNC:9100 PPM1K gene PPM1K Expert Review Amber;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Maple syrup urine disease, mild variant, MIM#615135 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 23086801;36706222 False 2 0;100;0 1.63 True ENSG00000163644 ENSG00000163644 HGNC:25415 PPP1R15B gene PPP1R15B Expert Review Amber;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Microcephaly, short stature, and impaired glucose metabolism 2, MIM# 616817 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 26159176;26307080;27640355 False 2 0;100;0 1.63 True ENSG00000158615 ENSG00000158615 HGNC:14951 PPP2R2B gene PPP2R2B Expert Review Amber;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental disorder MONDO:0700092, PPP2R2B-related Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 25356899;39565297 False 2 0;100;0 1.63 True ENSG00000156475 ENSG00000156475 HGNC:9305 PPP5C gene PPP5C Expert Review Amber;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental disorder, MONDO:0700092, PPP5C-related Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 35361529;25363768;33057194 False 2 0;100;0 1.63 True ENSG00000011485 ENSG00000011485 HGNC:9322 PRICKLE2 gene PRICKLE2 Expert Review Amber;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental disorder MONDO:0700092, PRICKLE2-related Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 34092786;21276947;26942291;26942292 False 2 50;50;0 1.63 True ENSG00000163637 ENSG00000163637 HGNC:20340 PRKD1 gene PRKD1 Expert Review Amber;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Congenital heart defects and ectodermal dysplasia, 617364 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 32817298;27479907 False 2 50;50;0 1.63 True ENSG00000184304 ENSG00000184304 HGNC:9407 PRRT2 gene PRRT2 Expert Review Amber;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Convulsions, familial infantile, with paroxysmal choreoathetosis, MIM# 602066;Episodic kinesigenic dyskinesia 1, MIM# 128200;Seizures, benign familial infantile, 2, MIM# 605751;intellectual disability, autosomal recessive Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 23352743;25595153;23398397 False 2 0;100;0 1.63 True ENSG00000167371 ENSG00000167371 HGNC:30500 PRSS12 gene PRSS12 Expert Review Amber;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Intellectual disability, PRSS12 related MIM#249500 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 12459588;22090715;23344636 False 2 0;50;50 1.63 True ENSG00000164099 ENSG00000164099 HGNC:9477 PSAT1 gene PSAT1 Expert Review Amber;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Phosphoserine aminotransferase deficiency, MIM# 610992;Neu-Laxova syndrome 2, MIM# 616038 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 26960553;17436247;25152457 False 2 0;100;0 1.63 True ENSG00000135069 ENSG00000135069 HGNC:19129 PSMB1 gene PSMB1 Expert Review Amber;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Intellectual disability;microcephaly Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 32129449 False 2 0;100;0 1.63 True ENSG00000008018 ENSG00000008018 HGNC:9537 PTPA gene PTPA Expert Review Amber;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Intellectual disability;Parkinsonism Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 36073231 False 2 0;100;0 1.63 True ENSG00000119383 ENSG00000119383 HGNC:9308 RAB14 gene RAB14 Expert Review Amber;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Developmental disorders Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 33057194 False 2 0;100;0 1.63 True ENSG00000119396 ENSG00000119396 HGNC:16524 RAB1A gene RAB1A Expert Review Amber;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted neurodevelopmental disorder MONDO:0700092, RAB1A-related Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 PMID: 37924809 False 2 0;100;0 1.63 True ENSG00000138069 ENSG00000138069 HGNC:9758 RBM28 gene RBM28 Expert Review Amber;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Alopecia, neurologic defects, and endocrinopathy syndrome, MIM#612079 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 18439547;33941690 False 2 0;100;0 1.63 True ENSG00000106344 ENSG00000106344 HGNC:21863 RBMX gene RBMX Expert Review;Expert Review Amber Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Intellectual developmental disorder, syndromic 11, Shashi type, MIM#300238;Gustavson syndrome, MIM# 309555 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 25256757;34260915;37277488 False 2 0;100;0 1.63 True ENSG00000147274 ENSG00000147274 HGNC:9910 REPS2 gene REPS2 Expert Review Amber;Other Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females complex neurodevelopmental disorder MONDO:0100038;Cerebral palsy HP:0100021 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 2 0;100;0 1.63 True ENSG00000169891 ENSG00000169891 HGNC:9963 RIC1 gene RIC1 Expert Review Amber;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Cleft lip;cataract;tooth abnormality;intellectual disability;facial dysmorphism;ADHD Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 31932796 False 2 0;100;0 1.63 True ENSG00000107036 ENSG00000107036 HGNC:17686 RMRP gene RMRP Expert Review Amber;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Anauxetic dysplasia 1, MIM#607095 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 2 0;100;0 1.63 True ENSG00000269900 ENSG00000269900 HGNC:10031 RNF2 gene RNF2 Expert Review Amber;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Lou-Schoch-Yamamoto syndrome , MIM#619460;epilepsy;intellectual disability;intrauterine growth retardation Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 33864376 False 2 0;100;0 1.63 True ENSG00000121481 ENSG00000121481 HGNC:10061 RNPC3 gene RNPC3 Expert Review Amber;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Growth hormone deficiency;Intellectual disability Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 29866761;32462814;33650182 False 2 0;100;0 1.63 True ENSG00000185946 ENSG00000185946 HGNC:18666 RPS23 gene RPS23 Expert Review Amber;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Brachycephaly, trichomegaly, and developmental delay, MIM# 617412 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 28257692 False 2 0;100;0 1.63 True ENSG00000186468 ENSG00000186468 HGNC:10410 RREB1 gene RREB1 Expert Review Amber;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Rasopathy, MONDO:0021060, RREB1-related Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 32938917;38332451 False 2 0;100;0 1.63 True ENSG00000124782 ENSG00000124782 HGNC:10449 RSPRY1 gene RSPRY1 Expert list;Expert Review Amber Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Spondyloepimetaphyseal dysplasia, Faden-Alkuraya type, 616585 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 26365341 False 2 0;100;0 1.63 True ENSG00000159579 ENSG00000159579 HGNC:29420 RUSC2 gene RUSC2 Expert list;Expert Review Amber Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Mental retardation, autosomal recessive 61, MIM# 617773" Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 27612186 False 2 0;100;0 1.63 True ENSG00000198853 ENSG00000198853 HGNC:23625 SACS gene SACS Expert Review Amber;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Spastic ataxia, Charlevoix-Saguenay type, MIM# 270550 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 28843771;20876471;28658676;27871429 False 2 0;100;0 1.63 True ENSG00000151835 ENSG00000151835 HGNC:10519 SEC31A gene SEC31A Expert Review Amber;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "?Neurodevelopmental disorder with spastic quadriplegia, optic atrophy, seizures, and structural brain anomalies, OMIM #618651" Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 30464055 False 2 0;100;0 1.63 True ENSG00000138674 ENSG00000138674 HGNC:17052 SEMA3E gene SEMA3E Expert Review Amber;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted CHARGE syndrome, MIM#214800 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 15235037;31691538;31464029 False 2 0;100;0 1.63 True ENSG00000170381 ENSG00000170381 HGNC:10727 SEMA5A gene SEMA5A Expert Review Amber;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted no OMIM number yet Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 PMID: 26395558 False 2 0;100;0 1.63 True ENSG00000112902 ENSG00000112902 HGNC:10736 SLC1A1 gene SLC1A1 Expert Review Amber;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Dicarboxylic aminoaciduria, MIM#222730 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 2 0;100;0 1.63 True ENSG00000106688 ENSG00000106688 HGNC:10939 SLC2A2 gene SLC2A2 Expert Review Amber;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Fanconi-Bickel syndrome, MIM# 227810 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 2 0;100;0 1.63 True ENSG00000163581 ENSG00000163581 HGNC:11006 SLC35A1 gene SLC35A1 Expert Review Amber;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type IIf, MIM# 603585 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 28856833;23873973;11157507 False 2 0;100;0 1.63 True ENSG00000164414 ENSG00000164414 HGNC:11021 SLC35A3 gene SLC35A3 Expert list;Expert Review Amber Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Arthrogryposis, mental retardation, and seizures OMIM #615553;Skeletal dysplasia Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 28328131;24031089;28777481 False 2 0;100;0 1.63 True ENSG00000117620 ENSG00000117620 HGNC:11023 SLC35B2 gene SLC35B2 Expert Review Amber;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Leukodystrophy, hypomyelinating, 26, with chondrodysplasia, MIM# 620269 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 35325049 False 2 0;100;0 1.63 True ENSG00000157593 ENSG00000157593 HGNC:16872 SLC35F1 gene SLC35F1 Expert Review Amber;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neruodevelopmental disorder, MONDO:0700092, SLC35F1-associated;Rett-like syndrome Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 33821533 False 2 0;100;0 1.63 True ENSG00000196376 ENSG00000196376 HGNC:21483 SLC5A5 gene SLC5A5 Expert Review Amber;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Thyroid dyshormonogenesis 1, MIM# 274400 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 2 0;100;0 1.63 True ENSG00000105641 ENSG00000105641 HGNC:11040 SLC6A17 gene SLC6A17 Expert Review Amber;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mental retardation, autosomal recessive 48, MIM# 616269 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 25704603;23672601 False 2 0;100;0 1.63 True ENSG00000197106 ENSG00000197106 HGNC:31399 SLC9A7 gene SLC9A7 Expert list;Expert Review Amber Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Intellectual developmental disorder, X-linked 108;OMIM #301024 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 PubMed: 30335141 False 2 0;100;0 1.63 True ENSG00000065923 ENSG00000065923 HGNC:17123 SMARCD2 gene SMARCD2 Expert list;Expert Review Amber Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Specific granule deficiency 2, 617475 (includes global developmental delay in some patients) Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 26350204;28369036 False 2 0;100;0 1.63 True ENSG00000108604 ENSG00000108604 HGNC:11107 SNIP1 gene SNIP1 Expert Review Amber;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Psychomotor retardation, epilepsy, and craniofacial dysmorphism, MIM# 614501 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 22279524;34570759 False 2 0;100;0 1.63 True ENSG00000163877 ENSG00000163877 HGNC:30587 SNORD118 gene SNORD118 Expert Review Amber;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Leukoencephalopathy, brain calcifications, and cysts, MIM#614561 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 27571260 False 2 0;100;0 1.63 True ENSG00000200463 ENSG00000200463 HGNC:32952 SNRPN gene SNRPN Expert list;Expert Review Amber Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed) Prader-Willi syndrome;OMIM #176270 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 2 0;100;0 1.63 True ENSG00000128739 ENSG00000128739 HGNC:11164 SOX3 gene SOX3 Expert Review Amber;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Mental retardation, X-linked, with isolated growth hormone deficiency, MIM#300123;Panhypopituitarism, X-linked, MIM#312000 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 29175558;30125608;12428212;15800844 False 2 0;100;0 1.63 True Other ENSG00000134595 ENSG00000134595 HGNC:11199 SOX9 gene SOX9 Expert Review Amber;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted campomelic dysplasia MONDO:0007251 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 20301724;26663529;21373255 False 2 0;50;50 1.63 True ENSG00000125398 ENSG00000125398 HGNC:11204 SREBF2 gene SREBF2 Expert Review Amber;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurocutaneous syndrome, MONDO:0042983, SREBF2-related Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 38847193 False 2 0;100;0 1.63 True ENSG00000198911 ENSG00000198911 HGNC:11290 STN1 gene STN1 Expert Review Amber;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Cerebroretinal microangiopathy with calcification and cysts 2, MIM#617341 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 32627942;27432940 False 2 0;0;0 1.63 True ENSG00000107960 ENSG00000107960 HGNC:26200 SV2A gene SV2A Expert Review Amber;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Neurodevelopmental disorder, MONDO:0700092, SV2A-related;Developmental and epileptic encephalopathy 113, MIM# 620772 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 PMID: 37985816 False 2 0;100;0 1.63 True ENSG00000159164 ENSG00000159164 HGNC:20566 TACO1 gene TACO1 Expert list;Expert Review Amber Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex IV deficiency;OMIM #220110 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 PubMed: 19503089;20727754;25044680 False 2 0;100;0 1.63 True ENSG00000136463 ENSG00000136463 HGNC:24316 TAF13 gene TAF13 Expert Review Amber;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mental retardation, autosomal recessive 60, MIM# 617432 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 28257693 False 2 0;100;0 1.63 True ENSG00000197780 ENSG00000197780 HGNC:11546 TAF1C gene TAF1C Expert Review Amber;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder (MONDO#0700092), TAF1C-related Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 32779182 False 2 0;100;0 1.63 True ENSG00000103168 ENSG00000103168 HGNC:11534 TARS gene TARS Expert Review Amber;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Trichothiodystrophy 7, nonphotosensitive;OMIM #618546 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 PMID: 31374204 False 2 0;100;0 1.63 True ENSG00000113407 ENSG00000113407 HGNC:11572 TGFB1 gene TGFB1 Expert list;Expert Review Amber Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Inflammatory bowel disease, immunodeficiency, and encephalopathy, MIM# 618213 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 29483653 False 2 0;100;0 1.63 True ENSG00000105329 ENSG00000105329 HGNC:11766 THG1L gene THG1L Expert Review Amber;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Spinocerebellar ataxia, autosomal recessive 28 - 618800;Epilepsy;Intellectual Disability Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 33682303 False 2 0;100;0 1.63 True ENSG00000113272 ENSG00000113272 HGNC:26053 THRB gene THRB Expert Review Amber;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Thyroid hormone resistance, autosomal recessive, MIM# 274300;Thyroid hormone resistance, autosomal dominant, MIM# 188570 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 22319036;1682340 False 2 0;100;0 1.63 True ENSG00000151090 ENSG00000151090 HGNC:11799 TKFC gene TKFC Expert Review Amber;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Triokinase and FMN cyclase deficiency syndrome, MIM#618805;Developmental delay;cataracts;liver dysfunction Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 32004446 False 2 0;100;0 1.63 True ENSG00000149476 ENSG00000149476 HGNC:24552 TKT gene TKT Expert list;Expert Review Amber Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Short stature, developmental delay, and congenital heart defects;OMIM #617044 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 PubMed: 27259054 False 2 50;50;0 1.63 True ENSG00000163931 ENSG00000163931 HGNC:11834 TMEM231 gene TMEM231 Expert list;Expert Review Amber Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 20, OMIM #614970;Meckel syndrome 11, OMIM #615397 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 PMID: 23012439 False 2 0;100;0 1.63 True ENSG00000205084 ENSG00000205084 HGNC:37234 TNIK gene TNIK Expert Review Amber;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mental retardation, autosomal recessive 54, MIM# 617028 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 27106596;23035106 False 2 0;100;0 1.63 True ENSG00000154310 ENSG00000154310 HGNC:30765 TOP2B gene TOP2B Expert list;Expert Review Amber Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Intellectual disability Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 31953910;28343847;12773624 False 2 0;100;0 1.63 True ENSG00000077097 ENSG00000077097 HGNC:11990 TRAPPC2L gene TRAPPC2L Expert Review Amber;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Encephalopathy, progressive, early-onset, with episodic rhabdomyolysis, 618331 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 30120216;32843486 False 2 0;100;0 1.63 True ENSG00000167515 ENSG00000167515 HGNC:30887 TRIP13 gene TRIP13 Expert Review Amber;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mosaic variegated aneuploidy syndrome 3, MIM# 617598 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 28553959 False 2 0;100;0 1.63 True ENSG00000071539 ENSG00000071539 HGNC:12307 TRPC5 gene TRPC5 Expert Review Amber;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Neurodevelopmental disorder, MONDO:0700092, TRPC5-related Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 36323681;24817631;23033978;33504798;28191890 False 2 0;100;0 1.63 True ENSG00000072315 ENSG00000072315 HGNC:12337 TSHZ3 gene TSHZ3 Expert Review Amber;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted congenital anomaly of kidney and urinary tract MONDO:0019719 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 27668656;34919690;36553458;39420202 False 2 0;100;0 1.63 True ENSG00000121297 ENSG00000121297 HGNC:30700 TSPAN7 gene TSPAN7 Expert Review Amber;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Intellectual developmental disorder, X-linked 58, MIM #300210, MONDO:0010266 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 10449641;12070254;10655063;25081361 False 2 0;100;0 1.63 True ENSG00000156298 ENSG00000156298 HGNC:11854 TTL gene TTL Expert Review Amber;Other Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal complex neurodevelopmental disorder MONDO:0100038 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 2 0;100;0 1.63 True ENSG00000114999 ENSG00000114999 HGNC:21586 TUBGCP4 gene TUBGCP4 Expert list;Expert Review Amber Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Microcephaly and chorioretinopathy, autosomal recessive, 3, 616335 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 25817018 False 2 0;100;0 1.63 True ENSG00000137822 ENSG00000137822 HGNC:16691 TUFM gene TUFM Expert list;Expert Review Amber Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 4;OMIM #610678 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 PubMed: 26741492;17160893 False 2 0;100;0 1.63 True ENSG00000178952 ENSG00000178952 HGNC:12420 UPF1 gene UPF1 Expert Review Amber;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Developmental disorders Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 33057194 False 2 0;100;0 1.63 True ENSG00000005007 ENSG00000005007 HGNC:9962 UQCC2 gene UQCC2 Expert list;Expert Review Amber Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex III deficiency, nuclear type 7;OMIM #615824 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 PubMed: 28804536;24385928 False 2 0;100;0 1.63 True ENSG00000137288 ENSG00000137288 HGNC:21237 USP14 gene USP14 Expert Review Amber;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Syndromic disease MONDO:0002254, USP14-related Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 38469793;35066879 False 2 0;100;0 1.63 True ENSG00000101557 ENSG00000101557 HGNC:12612 VPS37A gene VPS37A Expert list;Expert Review Amber Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia 53, autosomal recessive;OMIM #614898 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 PMID: 22717650 False 2 0;100;0 1.63 True ENSG00000155975 ENSG00000155975 HGNC:24928 VPS51 gene VPS51 Expert list;Expert Review Amber Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Pontocerebellar hypoplasia, type 13, MIM# 618606" Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 30624672;31207318 False 2 0;100;0 1.63 True ENSG00000149823 ENSG00000149823 HGNC:1172 WFS1 gene WFS1 Expert Review Amber;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Wolfram syndrome 1, MIM# 222300;Wolfram-like syndrome, autosomal dominant, MIM# 614296 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 2 50;50;0 1.63 True ENSG00000109501 ENSG00000109501 HGNC:12762 YAP1 gene YAP1 Expert Review Amber;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or mental retardation OMIM #120433 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 24462371 False 2 0;100;0 1.63 True ENSG00000137693 ENSG00000137693 HGNC:16262 YKT6 gene YKT6 Expert Review Amber;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Syndromic disease, MONDO:0002254, YKT6-related Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 38522068 False 2 0;100;0 1.63 True ENSG00000106636 ENSG00000106636 HGNC:16959 ZBTB16 gene ZBTB16 Expert Review Amber;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Skeletal defects, genital hypoplasia, and mental retardation, OMIM #612447 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 18611983 False 2 0;100;0 1.63 True ENSG00000109906 ENSG00000109906 HGNC:12930 ZC3H14 gene ZC3H14 Expert list;Expert Review Amber Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mental retardation, autosomal recessive 56;OMIM# 617125 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 21734151;33710394;28666327 False 2 0;100;0 1.63 True ENSG00000100722 ENSG00000100722 HGNC:20509 ZDHHC16 gene ZDHHC16 Expert Review Amber;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal neurodevelopmental disorder MONDO:0700092, ZDHHC16-related Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 39313616 False 2 0;100;0 1.63 True ENSG00000171307 ENSG00000171307 HGNC:20714 ZNF407 gene ZNF407 Expert Review Amber;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal SIMHA syndrome, MIM# 619557;Global developmental delay;Intellectual disability Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 24907849;32737394;23195952 False 2 0;100;0 1.63 True ENSG00000215421 ENSG00000215421 HGNC:19904 ZNF668 gene ZNF668 Expert Review Amber;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with poor growth, large ears, and dysmorphic facies, MIM# 620194 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 34313816;26633546 False 2 0;100;0 1.63 True ENSG00000167394 ENSG00000167394 HGNC:25821 ABCC6 gene ABCC6 Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000091262 ENSG00000091262 HGNC:57 ABCG5 gene ABCG5 Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Sitosterolemia 2, MIM#618666 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000138075 ENSG00000138075 HGNC:13886 ACOX2 gene ACOX2 Expert Review Red;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Bile acid synthesis defect, congenital, 6 - 617308 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 27647924;27884763;29287774 False 1 0;0;100 1.63 True ENSG00000168306 ENSG00000168306 HGNC:120 ACTA1 gene ACTA1 Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Myopathy, actin, congenital, with excess of thin myofilaments, MIM#161800;Nemaline myopathy 3, MIM#161800;Myopathy, actin, congenital, with cores, MIM#161800 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 21514153 False 1 0;0;100 1.63 True ENSG00000143632 ENSG00000143632 HGNC:129 ADA2 gene ADA2 Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome, MIM#615688 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000093072 ENSG00000093072 HGNC:1839 ADAMTSL2 gene ADAMTSL2 Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Geleophysic dysplasia 1, MIM#231050 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000197859 ENSG00000197859 HGNC:14631 ADGRB3 gene ADGRB3 Expert Review Red;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Intellectual disability Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 30659260;18628273 False 1 0;0;100 1.63 True ENSG00000135298 ENSG00000135298 HGNC:945 ADGRG6 gene ADGRG6 Expert Review Red;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Lethal congenital contracture syndrome 9;OMIM #616503 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 PMID: 30549416 False 1 0;0;100 1.63 True ENSG00000112414 ENSG00000112414 HGNC:13841 ADRA2B gene ADRA2B Expert list;Expert Review Red Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Cortical myoclonus and epilepsy;Intellectual disability Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 24114805;21937992 False 1 0;0;100 1.63 True ENSG00000222040 ENSG00000274286 HGNC:282 AFG3L2 gene AFG3L2 Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Spastic ataxia 5, autosomal recessive, MIM#614487 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000141385 ENSG00000141385 HGNC:315 AGGF1 gene AGGF1 Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders Unknown Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000164252 ENSG00000164252 HGNC:24684 AGK gene AGK Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Sengers syndrome, MIM#212350 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000006530 ENSG00000006530 HGNC:21869 AGL gene AGL Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Glycogen storage disease IIIa, MIM# 232400 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000162688 ENSG00000162688 HGNC:321 AGO3 gene AGO3 Expert list;Expert Review Red Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Intellectual disability Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 25271087 False 1 0;0;100 1.63 True ENSG00000126070 ENSG00000126070 HGNC:18421 AGPS gene AGPS Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Rhizomelic chondrodysplasia punctata, type 3, MIM#600121 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000018510 ENSG00000018510 HGNC:327 AGT gene AGT Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Renal tubular dysgenesis, MIM#267430 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000135744 ENSG00000135744 HGNC:333 AGTR2 gene AGTR2 Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females X-linked complex neurodevelopmental disorder MONDO:0100148 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000180772 ENSG00000180772 HGNC:338 AHSG gene AHSG Expert Review Red;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal ?Alopecia-intellectual disability syndrome 1 MIM#203650;infantile cortical hyperostosis Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 PMID: 28054173;9395485;31288248;17389622 False 1 0;0;100 1.63 True ENSG00000145192 ENSG00000145192 HGNC:349 AKR1C2 gene AKR1C2 Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal 46XY sex reversal 8, MIM#614279 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000151632 ENSG00000151632 HGNC:385 ALDOB gene ALDOB Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Fructose intolerance, hereditary, MIM#229600 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000136872 ENSG00000136872 HGNC:417 ALG2 gene ALG2 Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Myasthenic syndrome, congenital, 14, with tubular aggregates, MIM# 616228;Congenital disorder of glycosylation, type Ii, MIM# 607906 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000119523 ENSG00000119523 HGNC:23159 ALS2 gene ALS2 Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Spastic paralysis, infantile onset ascending, MIM#607225 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000003393 ENSG00000003393 HGNC:443 ANKH gene ANKH Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Craniometaphyseal dysplasia, MIM#123000 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000154122 ENSG00000154122 HGNC:15492 ANKRD31 gene ANKRD31 Expert Review Red;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental disorder, MONDO:0700092, ANKRD31-related Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 27541642 False 1 0;0;100 1.63 True ENSG00000145700 ENSG00000145700 HGNC:26853 APTX gene APTX Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia, MIM#208920 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000137074 ENSG00000137074 HGNC:15984 AR gene AR Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Spinal and bulbar muscular atrophy of Kennedy, MIM# 313200 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000169083 ENSG00000169083 HGNC:644 ARHGEF6 gene ARHGEF6 Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females MENTAL RETARDATION X-LINKED TYPE 46 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 11017088 False 1 0;0;100 1.63 True ENSG00000129675 ENSG00000129675 HGNC:685 ASMT gene ASMT Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders Unknown Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 21251267 False 1 0;0;100 1.63 True ENSG00000196433 ENSG00000196433 HGNC:750 ATL1 gene ATL1 Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neuropathy, hereditary sensory, type ID, MIM# 613708;Spastic paraplegia 3A, autosomal dominant, MIM# 182600 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 21336785;28736820;29180453;29691679;31236401 False 1 0;0;100 1.63 True ENSG00000198513 ENSG00000198513 HGNC:11231 ATP10A gene ATP10A Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 31696658 False 1 0;0;100 1.63 True ENSG00000206190 ENSG00000206190 HGNC:13542 ATP2A2 gene ATP2A2 Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Darier disease, MIM#124200 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000174437 ENSG00000174437 HGNC:812 ATP2B3 gene ATP2B3 Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders Unknown Spinocerebellar ataxia, X-linked 1, MIM#302500 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 22912398;27653636 False 1 0;0;100 1.63 True ENSG00000067842 ENSG00000067842 HGNC:816 ATP2C2 gene ATP2C2 Expert Review Red;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted language impairment, HP:0002463 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 33864365;28440294 False 1 0;0;100 1.63 True ENSG00000064270 ENSG00000064270 HGNC:29103 ATP6V1C1 gene ATP6V1C1 Expert Review Red;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted neurodevelopmental disorder MONDO:0700092, ATP6V1C1-related Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 39210597 False 1 0;0;100 1.63 True ENSG00000155097 ENSG00000155097 HGNC:856 ATXN10 gene ATXN10 Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Spinocerebellar ataxia 10, MIM#603516 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000130638 ENSG00000130638 HGNC:10549 AVP gene AVP Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Diabetes insipidus, neurohypophyseal, MIM#125700 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000101200 ENSG00000101200 HGNC:894 AVPR1A gene AVPR1A Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders Unknown Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000166148 ENSG00000166148 HGNC:895 AVPR2 gene AVPR2 Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Diabetes insipidus, nephrogenic, MIM#304800 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000126895 ENSG00000126895 HGNC:897 B3GAT3 gene B3GAT3 Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects, MIM#245600 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000149541 ENSG00000149541 HGNC:923 BANF1 gene BANF1 Expert Review Red;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental disorder, MONDO:0700092, BANF1-related Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 35982159 False 1 0;0;100 1.63 True ENSG00000175334 ENSG00000175334 HGNC:17397 BDNF gene BDNF Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Central hypoventilation syndrome, congenital, MIM#209880 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000176697 ENSG00000176697 HGNC:1033 BICD2 gene BICD2 Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Spinal muscular atrophy, lower extremity-predominant, 2A, autosomal dominant, MIM#615290 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 50;0;50 1.63 True ENSG00000185963 ENSG00000185963 HGNC:17208 BIN1 gene BIN1 Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Centronuclear myopathy 2, MIM# 255200 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000136717 ENSG00000136717 HGNC:1052 BLM gene BLM Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Bloom syndrome, MIM# 210900 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000197299 ENSG00000197299 HGNC:1058 BMPER gene BMPER Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Diaphanospondylodysostosis, MIM#608022 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000164619 ENSG00000164619 HGNC:24154 C18orf32 gene C18orf32 Expert Review Red;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder (MONDO:0700092), C18orf32-related Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 PMID:35107634 False 1 0;0;100 1.63 True ENSG00000177576 ENSG00000177576 HGNC:31690 C19orf12 gene C19orf12 Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Neurodegeneration with brain iron accumulation 4, MIM#614298 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000131943 ENSG00000131943 HGNC:25443 C20orf24 gene C20orf24 Expert Review Red;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome 2, MIM# 616994 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 35614220;24194475 False 1 0;0;100 1.63 True ENSG00000101084 ENSG00000101084 HGNC:15870 C3orf58 gene C3orf58 Expert Review Red;Genetic Health Queensland;Victorian Clinical Genetics Services Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders Unknown Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000181744 ENSG00000181744 HGNC:28490 CA5A gene CA5A Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Hyperammonemia due to carbonic anhydrase VA deficiency, MIM# 615751 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 26913920 False 1 0;0;100 1.63 True ENSG00000174990 ENSG00000174990 HGNC:1377 CACNG2 gene CACNG2 Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Mental retardation, autosomal dominant 10, MIM#614256 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 21376300 False 1 0;0;100 1.63 True ENSG00000166862 ENSG00000166862 HGNC:1406 CANT1 gene CANT1 Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Desbuquois dysplasia 1, MIM# 251450 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000171302 ENSG00000171302 HGNC:19721 CCDC8 gene CCDC8 Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal 3-M syndrome 3, MIM#614205 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 21737058 False 1 0;0;100 1.63 True ENSG00000169515 ENSG00000169515 HGNC:25367 CDC6 gene CDC6 Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Meier-Gorlin syndrome 5 (MIM#613805) Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 21358632 False 1 0;0;100 1.63 True ENSG00000094804 ENSG00000094804 HGNC:1744 CDH15 gene CDH15 Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Mental retardation, autosomal dominant 3 MIM#612580 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 19012874;12052883;28422132;26506440 False 1 0;0;100 1.63 True ENSG00000129910 ENSG00000129910 HGNC:1754 CDK5R1 gene CDK5R1 Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Intellectual disability;autism Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 30733659 False 1 0;0;100 1.63 True ENSG00000176749 ENSG00000176749 HGNC:1775 CDT1 gene CDT1 Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Meier-Gorlin syndrome 4, MIM#613804 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000167513 ENSG00000167513 HGNC:24576 CFH gene CFH Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Complement factor H deficiency, MIM#609814 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000000971 ENSG00000000971 HGNC:4883 CFHR1 gene CFHR1 Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Hemolytic uremic syndrome, atypical, susceptibility to, MIM#235400 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000244414 ENSG00000244414 HGNC:4888 CFHR3 gene CFHR3 Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Hemolytic uremic syndrome, atypical, susceptibility to, MIM#235400 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000116785 ENSG00000116785 HGNC:16980 CHRNA4 gene CHRNA4 Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Epilepsy, nocturnal frontal lobe, 1, MIM# 600513 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 14623738 False 1 0;0;100 1.63 True ENSG00000101204 ENSG00000101204 HGNC:1958 CISD2 gene CISD2 Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Wolfram syndrome 2, MIM#604928 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000145354 ENSG00000145354 HGNC:24212 CLASP1 gene CLASP1 Expert Review Red;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal neurodevelopmental disorder MONDO:0700092, CLASP1-related Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 39040917 False 1 0;0;100 1.63 True ENSG00000074054 ENSG00000074054 HGNC:17088 CLCNKA gene CLCNKA Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders Other Bartter syndrome, type 4b, digenic, MIM#613090 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 18310267;29254190 False 1 0;0;100 1.63 True ENSG00000186510 ENSG00000186510 HGNC:2026 CLIC2 gene CLIC2 Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Intellectual disability, X-linked, syndromic 32, 300886 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 22814392;25927380 False 1 0;0;100 1.63 True ENSG00000155962 ENSG00000155962 HGNC:2063 CLIP2 gene CLIP2 Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Intellectual disability Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 22608712 False 1 0;0;100 1.63 True ENSG00000106665 ENSG00000106665 HGNC:2586 CLPP gene CLPP Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Perrault syndrome 3, MIM# 614129 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 23541340 False 1 0;0;100 1.63 True ENSG00000125656 ENSG00000125656 HGNC:2084 CMAS gene CMAS Expert Review Red;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder, MONDO:0700092, CMAS-related Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 31495922 False 1 0;0;100 1.63 True ENSG00000111726 ENSG00000111726 HGNC:18290 CNTN3 gene CNTN3 Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder, MONDO:0700092, CNTN3-related Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 28600779 False 1 0;0;100 1.63 True ENSG00000113805 ENSG00000113805 HGNC:2173 CNTN4 gene CNTN4 Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Intellectual disability;SCA Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 15106122;18349135;17932120 False 1 0;0;100 1.63 True ENSG00000144619 ENSG00000144619 HGNC:2174 CNTN6 gene CNTN6 Expert Review Red;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental disorder, MONDO:0700092, CNTN6-related Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 30836150;28641109;29983269 False 1 0;0;100 1.63 True ENSG00000134115 ENSG00000134115 HGNC:2176 CNTNAP5 gene CNTNAP5 Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Autism Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 20346443 False 1 0;0;100 1.63 True ENSG00000155052 ENSG00000155052 HGNC:18748 COA3 gene COA3 Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex IV deficiency, nuclear type 14, MIM# 619058 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 25604084 False 1 0;0;100 1.63 True ENSG00000183978 ENSG00000183978 HGNC:24990 COL18A1 gene COL18A1 Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Knobloch syndrome, type 1, MIM#267750 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000182871 ENSG00000182871 HGNC:2195 COL1A2 gene COL1A2 Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Ehlers-Danlos syndrome, arthrochalasia type, 2, MIM# 617821;Ehlers-Danlos syndrome, cardiac valvular type, MIM# 225320;Osteogenesis imperfecta, type II, MIM# 166210;Osteogenesis imperfecta, type III, MIM# 259420;Osteogenesis imperfecta, type IV, MIM# 166220 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000164692 ENSG00000164692 HGNC:2198 COLEC10 gene COLEC10 Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal 3MC syndrome 3, MIM# 248340 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 28301481 False 1 0;0;100 1.63 True ENSG00000184374 ENSG00000184374 HGNC:2220 COQ5 gene COQ5 Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Coenzyme Q10 deficiency, primary 9, MIM#619028;Cerebellar ataxia;encephalopathy;generalized tonic-clonic seizures;intellectual disability Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 29044765 False 1 0;0;100 1.63 True ENSG00000110871 ENSG00000110871 HGNC:28722 CORO1A gene CORO1A Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Immunodeficiency 8, MIM#615401 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000102879 ENSG00000102879 HGNC:2252 COX4I2 gene COX4I2 Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders Unknown Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis, MIM#612714 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 19268275;22730437 False 1 0;0;100 1.63 True ENSG00000131055 ENSG00000131055 HGNC:16232 COX6B1 gene COX6B1 Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex IV deficiency, nuclear type 7, MIM# 619051 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 18499082;24781756 False 1 0;0;100 1.63 True ENSG00000126267 ENSG00000126267 HGNC:2280 CP gene CP Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Aceruloplasminaemia, MIM#604290 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000047457 ENSG00000047457 HGNC:2295 CPA6 gene CPA6 Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Epilepsy, familial temporal lobe, 5, MIM#614417;Febrile seizures, familial, 11, MIM#614418 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 25875328;21922598;23105115 False 1 0;0;100 1.63 True ENSG00000165078 ENSG00000165078 HGNC:17245 CRKL gene CRKL Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 28121514;25565927 False 1 0;0;100 1.63 True ENSG00000099942 ENSG00000099942 HGNC:2363 CRLF1 gene CRLF1 Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Cold-induced sweating syndrome 1, MIM#272430 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000006016 ENSG00000006016 HGNC:2364 CRTAP gene CRTAP Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Osteogenesis imperfecta, type VII, MIM#610682 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000170275 ENSG00000170275 HGNC:2379 CSTB gene CSTB Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg), MIM# 254800 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 9012407;9054946 False 1 0;0;100 1.63 True ENSG00000160213 ENSG00000160213 HGNC:2482 CTSF gene CTSF Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Ceroid lipofuscinosis, neuronal, 13, Kufs type, MIM#615362 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000174080 ENSG00000174080 HGNC:2531 CUBN gene CUBN Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Megaloblastic anemia-1, Finnish type, MIM#261100;Proteinuria Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000107611 ENSG00000107611 HGNC:2548 CYC1 gene CYC1 Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex III deficiency, nuclear type 6 MIM#615453 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 23910460;34252606 False 1 0;0;100 1.63 True ENSG00000179091 ENSG00000179091 HGNC:2579 CYFIP1 gene CYFIP1 Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders Unknown Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000068793 ENSG00000273749 HGNC:13759 CYP27A1 gene CYP27A1 Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Cerebrotendinous xanthomatosis, MIM# 213700 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000135929 ENSG00000135929 HGNC:2605 CYP2U1 gene CYP2U1 Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia 56, autosomal recessive, MIM#615030 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000155016 ENSG00000155016 HGNC:20582 DDR2 gene DDR2 Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Warburg-Cinotti syndrome, MIM#618175, AD;Spondylometaepiphyseal dysplasia, short limb-hand type, MIM#271665, AR Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000162733 ENSG00000162733 HGNC:2731 DLGAP2 gene DLGAP2 Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders Unknown Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000198010 ENSG00000198010 HGNC:2906 DLK1 gene DLK1 Expert Review Red;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed) central precocious puberty Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 PMID: 28324015;30462238 False 1 50;0;50 1.63 True ENSG00000185559 ENSG00000185559 HGNC:2907 DNAH14 gene DNAH14 Expert Review Red;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder (MONDO#0700092), DNAH14-related Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 PMID: 35438214 False 1 50;0;50 1.63 True ENSG00000185842 ENSG00000185842 HGNC:2945 DNAJA1 gene DNAJA1 Expert Review Red;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Intellectual disability;seizures Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 30972502 False 1 0;0;100 1.63 True ENSG00000086061 ENSG00000086061 HGNC:5229 DNAJC3 gene DNAJC3 Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus, MIM# 616192 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 25466870;28940199 False 1 0;0;100 1.63 True ENSG00000102580 ENSG00000102580 HGNC:9439 DNAJC6 gene DNAJC6 Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Parkinson disease 19a, juvenile-onset, MIM#615528 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000116675 ENSG00000116675 HGNC:15469 DOCK8 gene DOCK8 Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted intellectual developmental disorder, autosomal dominant 2, MIM#614113 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 18060736;29930340;29191242;33455084;32978894;25435912 False 1 0;0;100 1.63 True ENSG00000107099 ENSG00000107099 HGNC:19191 DOK7 gene DOK7 Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Myasthenic syndrome, congenital, 10, MIM#254300 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000175920 ENSG00000175920 HGNC:26594 DPM3 gene DPM3 Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 15 612937 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 19576565;28803818;30931530;31469168 False 1 0;0;100 1.63 True ENSG00000179085 ENSG00000179085 HGNC:3007 DPP10 gene DPP10 Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders Unknown Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 28670437 False 1 0;0;100 1.63 True ENSG00000175497 ENSG00000175497 HGNC:20823 DPP6 gene DPP6 Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Intellectual disability, autosomal dominant 33 (MIM#616311) Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 23832105 False 1 0;67;33 1.63 True ENSG00000130226 ENSG00000130226 HGNC:3010 DSCR3 gene DSCR3 Expert Review Red;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder (MONDO:0700092), DSCR3-related Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 PMID: 31845315 False 1 0;0;100 1.63 True ENSG00000157538 ENSG00000157538 HGNC:3044 DSE gene DSE Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Ehlers-Danlos syndrome, musculocontractural type 2, MIM#615539 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000111817 ENSG00000111817 HGNC:21144 DUOXA2 gene DUOXA2 Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Thyroid dyshormonogenesis 5, MIM#274900 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000140274 ENSG00000140274 HGNC:32698 DYNC2H1 gene DYNC2H1 Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Short-rib thoracic dysplasia 3 with or without polydactyly, MIM#613091 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000187240 ENSG00000187240 HGNC:2962 EDC3 gene EDC3 Expert list;Expert Review Red Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Mental retardation, autosomal recessive 50, MIM# 616460" Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 29685133;25701870 False 1 0;0;100 1.63 True ENSG00000179151 ENSG00000179151 HGNC:26114 EDNRB gene EDNRB Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Waardenburg syndrome, type 4A, MIM#277580 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000136160 ENSG00000136160 HGNC:3180 EFNB1 gene EFNB1 Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders Other Craniofrontonasal dysplasia, MIM# 304110 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000090776 ENSG00000090776 HGNC:3226 EFNB2 gene EFNB2 Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Intellectual disability and congenital abnormalities Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 29508392 False 1 0;0;100 1.63 True ENSG00000125266 ENSG00000125266 HGNC:3227 EIF2AK1 gene EIF2AK1 Expert Review Red;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Intellectual disability;white matter abnormalities Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 32197074 False 1 0;0;100 1.63 True ENSG00000086232 ENSG00000086232 HGNC:24921 EIF2B1 gene EIF2B1 Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Leukoencephalopathy with vanishing white matter, MIM#603896 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000111361 ENSG00000111361 HGNC:3257 EIF2B2 gene EIF2B2 Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Leukoencephalopathy with vanishing white matter, MIM#603896 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000119718 ENSG00000119718 HGNC:3258 EIF2B3 gene EIF2B3 Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Leukoencephalopathy with vanishing white matter, MIM#603896 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000070785 ENSG00000070785 HGNC:3259 EIF2B4 gene EIF2B4 Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Leukoencephalopathy with vanishing white matter, MIM#603896 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000115211 ENSG00000115211 HGNC:3260 EIF2B5 gene EIF2B5 Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Leukoencephalopathy with vanishing white matter, MIM#603896 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000145191 ENSG00000145191 HGNC:3261 ELMOD1 gene ELMOD1 Expert Review Red;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder MONDO:0700092,ELMOD1-related Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 31327155 False 1 0;0;100 1.63 True ENSG00000110675 ENSG00000110675 HGNC:25334 ELP1 gene ELP1 Expert Review Red;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder, MONDO:0700092, ELP1-related Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 PMID: 36864284 False 1 0;0;100 1.63 True ENSG00000070061 ENSG00000070061 HGNC:5959 EOGT gene EOGT Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Adams-Oliver syndrome 4, MIM#615297 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 31368252 False 1 0;0;100 1.63 True ENSG00000163378 ENSG00000163378 HGNC:28526 EOMES gene EOMES Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Microcephaly Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 17353897 False 1 0;0;100 1.63 True ENSG00000163508 ENSG00000163508 HGNC:3372 EPB41L1 gene EPB41L1 Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Mental retardation, autosomal dominant 11, MIM# 614257 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 21376300;26539891;25961944 False 1 0;0;100 1.63 True ENSG00000088367 ENSG00000088367 HGNC:3378 EPM2A gene EPM2A Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Epilepsy, progressive myoclonic 2A (Lafora), MIM#254780 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000112425 ENSG00000112425 HGNC:3413 ERCC4 gene ERCC4 Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Xeroderma pigmentosum, group F, MIM#278760;XFE progeroid syndrome, MIM# 610965 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000175595 ENSG00000175595 HGNC:3436 ERMARD gene ERMARD Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Periventricular nodular heterotopia 6, MIM#615544 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 24056535;27087860 False 1 0;0;100 1.63 True ENSG00000130023 ENSG00000130023 HGNC:21056 ETS1 gene ETS1 Expert Review Red;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental disorder, MONDO:0700092, ETS1-related Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 31160359 False 1 0;0;100 1.63 True ENSG00000134954 ENSG00000134954 HGNC:3488 EVC gene EVC Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Ellis-van Creveld syndrome, MIM#225500 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000072840 ENSG00000072840 HGNC:3497 EVC2 gene EVC2 Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Ellis-van Creveld syndrome, MIM#225500 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000173040 ENSG00000173040 HGNC:19747 FA2H gene FA2H Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia 35, autosomal recessive, MIM#612319 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000103089 ENSG00000103089 HGNC:21197 FAAH2 gene FAAH2 Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Neuropsychiatric disorder Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 25885783 False 1 0;0;100 1.63 True ENSG00000165591 ENSG00000165591 HGNC:26440 FAM111A gene FAM111A Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Kenny-Caffey syndrome, type 2, MIM# 127000 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000166801 ENSG00000166801 HGNC:24725 FAM160B1 gene FAM160B1 Expert Review Red;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal no OMIM number yet Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 PMID: 31353455;27431290 False 1 0;0;100 1.63 True ENSG00000151553 ENSG00000151553 HGNC:29320 FBLN5 gene FBLN5 Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Cutis laxa, autosomal recessive, type IA, MIM#219100 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000140092 ENSG00000140092 HGNC:3602 FBN1 gene FBN1 Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Marfan syndrome, MIM#154700;Geleophysic dysplasia 2, MIM#614185;Weill-Marchesani syndrome 2, dominant, MIM#608328 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000166147 ENSG00000166147 HGNC:3603 FGF3 gene FGF3 Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Deafness, congenital with inner ear agenesis, microtia, and microdontia, MIM#610706 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000186895 ENSG00000186895 HGNC:3681 FLNB gene FLNB Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Larsen syndrome, MIM#150250 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000136068 ENSG00000136068 HGNC:3755 FTL gene FTL Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Neurodegeneration with brain iron accumulation 3, MIM#606159;Hyperferritinemia-cataract syndrome, MIM#600886;L-ferritin deficiency, dominant and recessive, MIM#615604 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000087086 ENSG00000087086 HGNC:3999 FZD3 gene FZD3 Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders Unknown Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000104290 ENSG00000104290 HGNC:4041 G6PC3 gene G6PC3 Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Neutropenia, severe congenital 4, autosomal recessive, MIM# 612541 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 20717171 False 1 0;0;100 1.63 True ENSG00000141349 ENSG00000141349 HGNC:24861 GABRG1 gene GABRG1 Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Developmental and epileptic encephalopathy MONDO:0100062 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 36121006 False 1 0;0;100 1.63 True ENSG00000163285 ENSG00000163285 HGNC:4086 GAN gene GAN Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Giant axonal neuropathy-1, MIM# 256850 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000261609 ENSG00000261609 HGNC:4137 GATA1 gene GATA1 Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000102145 ENSG00000102145 HGNC:4170 GBA2 gene GBA2 Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia 46, autosomal recessive, MIM#614409 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000070610 ENSG00000070610 HGNC:18986 GBE1 gene GBE1 Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Glycogen storage disease IV, MIM#232500 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000114480 ENSG00000114480 HGNC:4180 GCK gene GCK Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal "Diabetes mellitus, permanent neonatal 606176" Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000106633 ENSG00000106633 HGNC:4195 GHR gene GHR Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Growth hormone insensitivity, partial, MIM#604271;Laron dwarfism, MIM#262500 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000112964 ENSG00000112964 HGNC:4263 GJA1 gene GJA1 Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Atrioventricular septal defect 3, MIM#600309;Craniometaphyseal dysplasia, autosomal recessive, MIM#218400;Erythrokeratodermia variabilis et progressiva 3, MIM#617525;Hypoplastic left heart syndrome 1, MIM#241550;Oculodentodigital dysplasia, MIM#164200;Oculodentodigital dysplasia, autosomal recessive, MIM#257850;Palmoplantar keratoderma with congenital alopecia, MIM#104100;Syndactyly, type III, MIM# 186100 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000152661 ENSG00000152661 HGNC:4274 GJB1 gene GJB1 Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders Unknown Charcot-Marie-Tooth neuropathy, X-linked dominant, 1, MIM#302800 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000169562 ENSG00000169562 HGNC:4283 GLRA1 gene GLRA1 Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Hyperekplexia 1, MIM# 149400 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000145888 ENSG00000145888 HGNC:4326 GLUD1 gene GLUD1 Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hyperinsulinism-hyperammonemia syndrome, MIM#606762 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000148672 ENSG00000148672 HGNC:4335 GNA14 gene GNA14 Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders Unknown Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000156049 ENSG00000156049 HGNC:4382 GOSR2 gene GOSR2 Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Epilepsy, progressive myoclonic 6, MIM#614018 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000108433 ENSG00000108433 HGNC:4431 GPSM2 gene GPSM2 Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Chudley-McCullough syndrome, MIM#604213 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 20602914;22578326;28387217;27180139;27064331 False 1 0;0;100 1.63 True ENSG00000121957 ENSG00000121957 HGNC:29501 GRPR gene GRPR Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders Unknown Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000126010 ENSG00000126010 HGNC:4609 GSPT2 gene GSPT2 Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders Unknown Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 28414775 False 1 0;0;100 1.63 True ENSG00000189369 ENSG00000189369 HGNC:4622 GTF2I gene GTF2I Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders Unknown Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000077809 ENSG00000263001 HGNC:4659 GTF2IRD1 gene GTF2IRD1 Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders Unknown Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 31418010 False 1 0;0;100 1.63 True ENSG00000006704 ENSG00000006704 HGNC:4661 GYS2 gene GYS2 Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Glycogen storage disease 0, liver, MIM#240600 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000111713 ENSG00000111713 HGNC:4707 H19 gene H19 Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders Unknown Beckwith-Wiedemann syndrome, MIM#130650;Silver-Russell syndrome, MIM#180860 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000130600 ENSG00000130600 HGNC:4713 HADH gene HADH Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal 3-hydroxyacyl-CoA dehydrogenase deficiency, MIM#231530;Hyperinsulinemic hypoglycemia, familial, 4, MIM#609975 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000138796 ENSG00000138796 HGNC:4799 HAL gene HAL Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal [Histidinemia], MIM#235800 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 4421298;7119955 False 1 0;0;100 1.63 True ENSG00000084110 ENSG00000084110 HGNC:4806 HARS2 gene HARS2 Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Perrault syndrome 2, MIM# 614926 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 21464306;27650058;31827252;31486067 False 1 0;0;100 1.63 True ENSG00000112855 ENSG00000112855 HGNC:4817 HOXD10 gene HOXD10 Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Vertical talus, congenital, MIM#192950 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000128710 ENSG00000128710 HGNC:5133 IFT140 gene IFT140 Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders Unknown Short-rib thoracic dysplasia 9 with or without polydactyly, MIM#266920 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000187535 ENSG00000187535 HGNC:29077 IGBP1 gene IGBP1 Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Corpus callosum, agenesis of, with mental retardation, ocular coloboma and micrognathia, MIM# 300472 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 14556245 False 1 0;0;100 1.63 True ENSG00000089289 ENSG00000089289 HGNC:5461 IGF2 gene IGF2 Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders Unknown Growth restriction, severe, with distinctive facies, MIM#616489 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 31544945;26154720 False 1 0;0;100 1.63 True ENSG00000167244 ENSG00000167244 HGNC:5466 IMMP2L gene IMMP2L Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Autism Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 29788020;29152845 False 1 0;0;100 1.63 True ENSG00000184903 ENSG00000184903 HGNC:14598 INS gene INS Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Diabetes mellitus, permanent neonatal, MIM#606176 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000254647 ENSG00000254647 HGNC:6081 INSR gene INSR Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Leprechaunism, MIM# 246200;Rabson-Mendenhall syndrome, MIM# 262190 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000171105 ENSG00000171105 HGNC:6091 INTS8 gene INTS8 Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with cerebellar hypoplasia and spasticity, MIM# 618572 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 28542170 False 1 0;0;100 1.63 True ENSG00000164941 ENSG00000164941 HGNC:26048 IYD gene IYD Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Thyroid dyshormonogenesis 4, MIM#274800 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000009765 ENSG00000009765 HGNC:21071 JAG1 gene JAG1 Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Alagille syndrome 1, MIM#118450 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000101384 ENSG00000101384 HGNC:6188 KANK1 gene KANK1 Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cerebral palsy, spastic quadriplegic, 2, MIM#612900 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 16301218;30684669 False 1 0;0;100 1.63 True ENSG00000107104 ENSG00000107104 HGNC:19309 KATNAL2 gene KATNAL2 Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Autism Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 22495311;21572417;22495309;22495306 False 1 0;0;100 1.63 True ENSG00000167216 ENSG00000167216 HGNC:25387 KCNC3 gene KCNC3 Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Spinocerebellar ataxia 13, MIM#605259 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000131398 ENSG00000131398 HGNC:6235 KCNJ11 gene KCNJ11 Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal {Diabetes mellitus, type 2, susceptibility to} 125853;Diabetes mellitus, transient neonatal, 3 610582;Diabetes, permanent neonatal, with or without neurologic features 606176;Hyperinsulinemic hypoglycemia, familial, 2 601820;Maturity-onset diabetes of the young, type 13 616329 AD Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000187486 ENSG00000187486 HGNC:6257 KCTD13 gene KCTD13 Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Neurodevelopmental disorder (MONDO#0700092), KCTD13-related Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 22596160;29088697 False 1 0;0;100 1.63 True ENSG00000174943 ENSG00000174943 HGNC:22234 KIF16B gene KIF16B Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Intellectual disability Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 29736960 False 1 0;0;100 1.63 True ENSG00000089177 ENSG00000089177 HGNC:15869 KIF1B gene KIF1B Expert Review Red;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Hypotonia;coloboma;hypoplasia of the corpus callosum;severe neurodevelopmental delay Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 33710394 False 1 0;0;100 1.63 True ENSG00000054523 ENSG00000054523 HGNC:16636 KIF21A gene KIF21A Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Fibrosis of extraocular muscles, congenital, 1, MIM#135700 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000139116 ENSG00000139116 HGNC:19349 KIRREL3 gene KIRREL3 Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Intellectual disability Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 19012874 False 1 0;0;100 1.63 True ENSG00000149571 ENSG00000149571 HGNC:23204 KLF8 gene KLF8 Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders Unknown Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 11836360 False 1 0;0;100 1.63 True ENSG00000102349 ENSG00000102349 HGNC:6351 KLLN gene KLLN Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders Unknown Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 21177507 False 1 0;0;100 1.63 True ENSG00000227268 ENSG00000227268 HGNC:37212 KYNU gene KYNU Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders Unknown Hydroxykynureninuria, MIM#236800 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 28792876;17334708 False 1 0;0;100 1.63 True ENSG00000115919 ENSG00000115919 HGNC:6469 LBR gene LBR Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Greenberg skeletal dysplasia, MIM#215140;3 Pelger-Huet anomaly, MIM#169400 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000143815 ENSG00000143815 HGNC:6518 LGI4 gene LGI4 Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Arthrogryposis multiplex congenita, neurogenic, with myelin defect, MIM#617468 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000153902 ENSG00000153902 HGNC:18712 LHX3 gene LHX3 Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Pituitary hormone deficiency, combined, 3 (MIM#221750) Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 28302169 False 1 0;0;100 1.63 True ENSG00000107187 ENSG00000107187 HGNC:6595 LMNA gene LMNA Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders Unknown Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000160789 ENSG00000160789 HGNC:6636 LRP5 gene LRP5 Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Exudative vitreoretinopathy 4, MIM# 601813;Hyperostosis, endosteal, MIM# 144750;Osteopetrosis, autosomal dominant 1, MIM# 607634;Osteoporosis-pseudoglioma syndrome, MIM# 259770;Osteosclerosis, MIM# 144750;Polycystic liver disease 4 with or without kidney cysts, MIM# 617875;van Buchem disease, type 2 607636 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000162337 ENSG00000162337 HGNC:6697 LSM1 gene LSM1 Expert Review Red;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal no OMIM number yet Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 PMID: 31010896 False 1 0;0;100 1.63 True ENSG00000175324 ENSG00000175324 HGNC:20472 LSM11 gene LSM11 Expert Review Red;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Aicardi-Goutieres syndrome 8, MIM# 619486 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 PMID: 33230297 False 1 0;0;100 1.63 True ENSG00000155858 ENSG00000155858 HGNC:30860 MACROD2 gene MACROD2 Expert Review Red;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted no OMIM number yet Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 PMID: 31055587 False 1 0;0;100 1.63 True ENSG00000172264 ENSG00000172264 HGNC:16126 MAGT1 gene MAGT1 Expert list;Expert Review Red Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females X-linked intellectual disability MONDO:0100284;Congenital disorder of glycosylation, type Icc, OMIM #301031 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 PMID: 31036665 False 1 0;50;50 1.63 True ENSG00000102158 ENSG00000102158 HGNC:28880 MAN2A2 gene MAN2A2 Expert Review Red;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, MONDO:0015286, MAN2A2-reated Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 36357165 False 1 0;0;100 1.63 True ENSG00000196547 ENSG00000196547 HGNC:6825 MARK4 gene MARK4 Expert Review Red;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental disorder (MONDO:0700092), MARK4-related Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 PMID: 38041405 False 1 0;100;0 1.63 True Other ENSG00000007047 ENSG00000007047 HGNC:13538 MARS2 gene MARS2 Expert list;Expert Review Red Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal ?Combined oxidative phosphorylation deficiency 25, OMIM #616430;Spastic ataxia 3, autosomal recessive, OMIM #611390 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 PMID: 25754315 False 1 0;50;50 1.63 True ENSG00000247626 ENSG00000247626 HGNC:25133 MCM4 gene MCM4 Expert list;Expert Review Red Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Immunodeficiency 54;OMIM #609981 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000104738 ENSG00000104738 HGNC:6947 MEPCE gene MEPCE Expert Review Red;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Intellectual disability;seizures;no OMIM number yet Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 PMID: 31467394 False 1 0;0;100 1.63 True ENSG00000146834 ENSG00000146834 HGNC:20247 MET gene MET Expert list;Expert Review Red Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal ?Deafness, autosomal recessive 97, OMIM #616705;{Osteofibrous dysplasia, susceptibility to}, OMIM #607278 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000105976 ENSG00000105976 HGNC:7029 METAP1 gene METAP1 Expert Review Red;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Intellectual disability, aggression, neurodevelopmental delay Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 32764695 False 1 0;0;100 1.63 True ENSG00000164024 ENSG00000164024 HGNC:15789 MFN2 gene MFN2 Expert list;Expert Review Red Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Charcot-Marie-Tooth disease, axonal, type 2A2A, OMIM #609260;Charcot-Marie-Tooth disease, axonal, type 2A2B, OMIM #617087;Hereditary motor and sensory neuropathy VIA, OMIM #601152 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000116688 ENSG00000116688 HGNC:16877 MGME1 gene MGME1 Expert list;Expert Review Red Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial DNA depletion syndrome 11;OMIM#615084 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 PubMed: 23313956 False 1 0;0;100 1.63 True ENSG00000125871 ENSG00000125871 HGNC:16205 MGP gene MGP Expert list;Expert Review Red Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Keutel syndrome;OMIM #245150 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000111341 ENSG00000111341 HGNC:7060 MID2 gene MID2 Expert list;Expert Review Red Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females ?Mental retardation, X-linked 101;OMIM#300928 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 PubMed: 24115387 False 1 0;0;100 1.63 True ENSG00000080561 ENSG00000080561 HGNC:7096 MLH1 gene MLH1 Expert list;Expert Review Red Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Mismatch repair cancer syndrome, OMIM #276300;Muir-Torre syndrome, OMIM #158320 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000076242 ENSG00000076242 HGNC:7127 MNX1 gene MNX1 Expert list;Expert Review Red Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Currarino syndrome;OMIM #176450 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000130675 ENSG00000130675 HGNC:4979 MPI gene MPI Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type Ib, MIM# 602579;MPI-CDG MONDO:0011257 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 12414827;9585601;10980531;33098580;33204592;32905087;32266963;30242110 False 1 0;0;100 1.63 True ENSG00000178802 ENSG00000178802 HGNC:7216 MPZ gene MPZ Expert list;Expert Review Red Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Various CMT types Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000158887 ENSG00000158887 HGNC:7225 MRAP gene MRAP Expert list;Expert Review Red Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Glucocorticoid deficiency 2;OMIM #607398 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000170262 ENSG00000170262 HGNC:1304 MRPS16 gene MRPS16 Expert list;Expert Review Red Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 2;OMIM #610498 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 PubMed: 15505824 False 1 0;0;100 1.63 True ENSG00000182180 ENSG00000182180 HGNC:14048 MSH6 gene MSH6 Expert list;Expert Review Red Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Colorectal cancer, hereditary nonpolyposis, type 5, OMIM #614350;Mismatch repair cancer syndrome, OMIM #276300 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000116062 ENSG00000116062 HGNC:7329 MTM1 gene MTM1 Expert list;Expert Review Red Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Myotubular myopathy, X-linked;OMIM#310400 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000171100 ENSG00000171100 HGNC:7448 MTMR2 gene MTMR2 Expert list;Expert Review Red Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Charcot-Marie-Tooth disease, type 4B1;OMIM #601382 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000087053 ENSG00000087053 HGNC:7450 MTPAP gene MTPAP Expert list;Expert Review Red Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal ?Spastic ataxia 4, autosomal recessive;OMIM#613672 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000107951 ENSG00000107951 HGNC:25532 MYH3 gene MYH3 Expert list;Expert Review Red Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Arthrogryposis, distal, type 2A (Freeman-Sheldon), OMIM #193700;Arthrogryposis, distal, type 2B3 (Sheldon-Hall), OMIM #618436;Contractures, pterygia, and variable skeletal fusions syndrome 1A, OMIM #178110;Contractures, pterygia, and variable skeletal fusions syndrome 1B, OMIM #618469 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000109063 ENSG00000109063 HGNC:7573 MYMK gene MYMK Expert list;Expert Review Red Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Carey-Fineman-Ziter syndrome;OMIM #254940 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;100;0 1.63 True ENSG00000187616 ENSG00000187616 HGNC:33778 MYO7A gene MYO7A Expert list;Expert Review Red Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Deafness, autosomal dominant 11, OMIM #601317;Deafness, autosomal recessive 2, OMIM #600060;Usher syndrome, type 1B, OMIM #276900 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000137474 ENSG00000137474 HGNC:7606 MYT1 gene MYT1 Expert Review Red;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Intellectual disability Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 33710394 False 1 0;0;100 1.63 True ENSG00000196132 ENSG00000196132 HGNC:7622 NAA30 gene NAA30 Expert Review Red;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted neurodevelopmental disorder, MONDO:0700092, NAA30-related Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 PMID: 37387332 False 1 0;0;100 1.63 True ENSG00000139977 ENSG00000139977 HGNC:19844 NAGS gene NAGS Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal N-acetylglutamate synthase deficiency, MIM#237310 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000161653 ENSG00000161653 HGNC:17996 NAT8L gene NAT8L Expert Review Red;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal N-acetylaspartate deficiency - MIM#614063 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 11310630;19807691;32275776 False 1 0;50;50 1.63 True ENSG00000185818 ENSG00000185818 HGNC:26742 NDN gene NDN Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders Unknown "Prader-Willi syndrome, MIM# 176270" Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000182636 ENSG00000182636 HGNC:7675 NEGR1 gene NEGR1 Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders Unknown Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000172260 ENSG00000172260 HGNC:17302 NFE2L1 gene NFE2L1 Expert Review Red;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Syndromic disease, MONDO:0002254 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 35112409 False 1 0;0;100 1.63 True ENSG00000082641 ENSG00000082641 HGNC:7781 NGF gene NGF Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Neuropathy, hereditary sensory and autonomic, type V, MIM# 608654 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000134259 ENSG00000134259 HGNC:7808 NHEJ1 gene NHEJ1 Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation, MIM#611291 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 16439204 False 1 0;0;100 1.63 True ENSG00000187736 ENSG00000187736 HGNC:25737 NHLRC1 gene NHLRC1 Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Epilepsy, progressive myoclonic 2B (Lafora), MIM#254780 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000187566 ENSG00000187566 HGNC:21576 NIN gene NIN Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Seckel syndrome 7, MIM#614851 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 22933543 False 1 0;0;100 1.63 True ENSG00000100503 ENSG00000100503 HGNC:14906 NLGN1 gene NLGN1 Expert Review Red;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Intellectual disability;autism;no OMIM number yet Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 PMID: 30460678 False 1 0;0;100 1.63 True ENSG00000169760 ENSG00000169760 HGNC:14291 NOP10 gene NOP10 Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Dyskeratosis congenita, autosomal recessive 1, MIM#224230 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 17507419 False 1 0;0;100 1.63 True ENSG00000182117 ENSG00000182117 HGNC:14378 NRXN2 gene NRXN2 Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Autism Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 21424692;30709877;25745399 False 1 0;0;100 1.63 True ENSG00000110076 ENSG00000110076 HGNC:8009 NTNG1 gene NTNG1 Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders Unknown Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000162631 ENSG00000162631 HGNC:23319 NUP62 gene NUP62 Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Striatonigral degeneration, infantile, MIM#271930 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 16786527 False 1 0;0;100 1.63 True ENSG00000213024 ENSG00000213024 HGNC:8066 ORC1 gene ORC1 Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Meier-Gorlin syndrome 1, MIM# 224690 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000085840 ENSG00000085840 HGNC:8487 ORC4 gene ORC4 Expert list;Expert Review Red Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Meier-Gorlin syndrome 2;OMIM #613800 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000115947 ENSG00000115947 HGNC:8490 ORC6 gene ORC6 Expert list;Expert Review Red Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Meier-Gorlin syndrome 3;OMIM #613803 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000091651 ENSG00000091651 HGNC:17151 PANK2 gene PANK2 Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Neurodegeneration with brain iron accumulation 1, MIM#234200 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000125779 ENSG00000125779 HGNC:15894 PAX2 gene PAX2 Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Papillorenal syndrome, MIM#120330 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000075891 ENSG00000075891 HGNC:8616 PAX3 gene PAX3 Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Craniofacial-deafness-hand syndrome, MIM#122880;Waardenburg syndrome, type 1, MIM#193500;Waardenburg syndrome, type 3, MIM#148820 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000135903 ENSG00000135903 HGNC:8617 PAX7 gene PAX7 Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Myopathy, congenital, progressive, with scoliosis, MIM# 618578 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000009709 ENSG00000009709 HGNC:8621 PCBD1 gene PCBD1 Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Hyperphenylalaninemia, BH4-deficient, D, MIM#264070 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000166228 ENSG00000166228 HGNC:8646 PCDH10 gene PCDH10 Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Autism Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 27567313;18621663 False 1 0;0;100 1.63 True ENSG00000138650 ENSG00000138650 HGNC:13404 PCDH15 gene PCDH15 Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Deafness, autosomal recessive 23, MIM#609533 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000150275 ENSG00000150275 HGNC:14674 PCDH9 gene PCDH9 Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders Unknown Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000184226 ENSG00000184226 HGNC:8661 PCLO gene PCLO Expert Review Red;Genetic Health Queensland;Victorian Clinical Genetics Services Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Pontocerebellar hypoplasia, type 3, MIM#608027 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 25832664 False 1 0;100;0 1.63 True ENSG00000186472 ENSG00000186472 HGNC:13406 PDE11A gene PDE11A Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Pigmented nodular adrenocortical disease, primary, 2, MIM#610475 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000128655 ENSG00000128655 HGNC:8773 PDGFB gene PDGFB Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Basal ganglia calcification, idiopathic, 5, MIM#615483 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000100311 ENSG00000100311 HGNC:8800 PDSS2 gene PDSS2 Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Coenzyme Q10 deficiency, primary, 3 MIM#614652 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 28125198;29032433;25349199;17186472;21723727;10972372 False 1 0;0;100 1.63 True ENSG00000164494 ENSG00000164494 HGNC:23041 PHKA2 gene PHKA2 Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Glycogen storage disease, type IXa1, MIM#306000 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000044446 ENSG00000044446 HGNC:8926 PHKG2 gene PHKG2 Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Glycogen storage disease IXc, MIM#613027 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000156873 ENSG00000156873 HGNC:8931 PIGF gene PIGF Expert Review Red;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Onychodystrophy, osteodystrophy, impaired intellectual development, and seizures syndrome, MIM# 619356 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 33386993 False 1 0;0;100 1.63 True ENSG00000151665 ENSG00000151665 HGNC:8962 PIK3R1 gene PIK3R1 Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted SHORT syndrome, MIM#269880 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000145675 ENSG00000145675 HGNC:8979 PINK1 gene PINK1 Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Parkinson disease 6, early onset, MIM#605909 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000158828 ENSG00000158828 HGNC:14581 PIP5K1B gene PIP5K1B Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders Unknown Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000107242 ENSG00000107242 HGNC:8995 PNP gene PNP Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Immunodeficiency due to purine nucleoside phosphorylase deficiency, MIM#613179 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000198805 ENSG00000198805 HGNC:7892 POC1A gene POC1A Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis, MIM#614813 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000164087 ENSG00000164087 HGNC:24488 POLD1 gene POLD1 Expert Review Red;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Intellectual disability;immunodeficiency Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 31449058 False 1 0;0;100 1.63 True ENSG00000062822 ENSG00000062822 HGNC:9175 POLD2 gene POLD2 Expert Review Red;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Intellectual disability;immunodeficiency Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 31449058 False 1 0;0;100 1.63 True ENSG00000106628 ENSG00000106628 HGNC:9176 PON3 gene PON3 Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders Unknown Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000105852 ENSG00000105852 HGNC:9206 POP1 gene POP1 Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Anauxetic dysplasia 2, MIM#617396 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 38351533 False 1 0;50;50 1.63 True ENSG00000104356 ENSG00000104356 HGNC:30129 POU1F1 gene POU1F1 Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Pituitary hormone deficiency, combined, 1, MIM# 613038 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000064835 ENSG00000064835 HGNC:9210 PPID gene PPID Expert Review Red;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Stutter disorder, (MONDO:0000723), PPID-related Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 37977818 False 1 0;0;100 1.63 True ENSG00000171497 ENSG00000171497 HGNC:9257 PPOX gene PPOX Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Porphyria variegata, MIM#176200 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000143224 ENSG00000143224 HGNC:9280 PRDM8 gene PRDM8 Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Epilepsy, progressive myoclonic, 10, MIM#616640 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 22961547 False 1 0;0;100 1.63 True ENSG00000152784 ENSG00000152784 HGNC:13993 PREPL gene PREPL Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Myasthenic syndrome, congenital, 22, MIM#616224 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 28726805 False 1 0;0;100 1.63 True ENSG00000138078 ENSG00000138078 HGNC:30228 PRF1 gene PRF1 Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Hemophagocytic lymphohistiocytosis, familial, 2, MIM#603553 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000180644 ENSG00000180644 HGNC:9360 PRICKLE1 gene PRICKLE1 Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders Unknown Epilepsy, progressive myoclonic 1B, MIM#612437 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000139174 ENSG00000139174 HGNC:17019 PRKDC gene PRKDC Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Immunodeficiency 26, with or without neurologic abnormalities, MIM#615966 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 19075392;23722905 False 1 0;0;100 1.63 True ENSG00000253729 ENSG00000253729 HGNC:9413 PRKN gene PRKN Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Parkinson disease, juvenile, type 2, MIM#600116 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000185345 ENSG00000185345 HGNC:8607 PRKRA gene PRKRA Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Dystonia 16, MIM#612067 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000180228 ENSG00000180228 HGNC:9438 PRMT9 gene PRMT9 Expert Review Red;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder, MONDO:0100500, PRMT9-related Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 PMID: 38561334 False 1 0;0;100 1.63 True ENSG00000164169 ENSG00000164169 HGNC:25099 PROSER1 gene PROSER1 Expert Review Red;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Syndromic disease MONDO:0002254, PROSER1-related;Developmental delay, hypotonia, seizures, failure-to-thrive, strabismus, drooling, recurrent otitis media, hearing impairment, and genitourinary malformations, no OMIM # Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 PMID: 35229282 False 1 0;0;100 1.63 True ENSG00000120685 ENSG00000120685 HGNC:20291 PRRX1 gene PRRX1 Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders Unknown Agnathia-otocephaly complex, MIM#202650 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000116132 ENSG00000116132 HGNC:9142 PRX gene PRX Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Charcot-Marie-Tooth disease, type 4F, MIM#614895 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000105227 ENSG00000105227 HGNC:13797 PSMC1 gene PSMC1 Expert Review Red;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with poor growth, spastic tetraplegia, and hearing loss , MIM# 620071 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 PMID: 35861243 False 1 0;0;100 1.63 True ENSG00000100764 ENSG00000100764 HGNC:9547 PYGL gene PYGL Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Glycogen storage disease VI, MIM#232700 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000100504 ENSG00000100504 HGNC:9725 RAB27A gene RAB27A Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Griscelli syndrome, type 2, MIM#607624 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000069974 ENSG00000069974 HGNC:9766 RAB40AL gene RAB40AL Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females MENTAL RETARDATION, X-LINKED, SYNDROMIC, MARTIN-PROBST TYPE Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 25044830 False 1 0;0;100 1.63 True ENSG00000102128 ENSG00000102128 HGNC:25410 RALGAPB gene RALGAPB Expert Review Red;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Neurodevelopmental disorders, autism Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 PMID: 32853829 False 1 0;0;100 1.63 True ENSG00000170471 ENSG00000170471 HGNC:29221 RANBP2 gene RANBP2 Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Encephalopathy, acute, infection-induced, 3, susceptibility to, MIM# 608033 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000153201 ENSG00000153201 HGNC:9848 RAPSN gene RAPSN Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency, MIM#616326 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000165917 ENSG00000165917 HGNC:9863 RASA1 gene RASA1 Expert Review;Expert Review Red Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000145715 ENSG00000145715 HGNC:9871 RAX gene RAX Expert Review;Expert Review Red Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal MICROPHTHALMIA, ISOLATED 3;MCOP3 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 30762128;24033328 False 1 0;0;100 1.63 True ENSG00000134438 ENSG00000134438 HGNC:18662 RBM8A gene RBM8A Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Thrombocytopenia-absent radius syndrome, MIM#274000 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000131795 ENSG00000265241 HGNC:9905 RBPJ gene RBPJ Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders Unknown Adams-Oliver syndrome 3, MIM#614814 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 22883147;29924900 False 1 0;0;100 1.63 True ENSG00000168214 ENSG00000168214 HGNC:5724 RDH14 gene RDH14 Expert Review Red;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder, MONDO:0700092, RDH14-related Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 34848785 False 1 0;0;100 1.63 True ENSG00000240857 ENSG00000240857 HGNC:19979 RECQL4 gene RECQL4 Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Baller-Gerold syndrome, MIM#218600;RAPADILINO syndrome, MIM#266280;Rothmund-Thomson syndrome, type 2,MIM#268400 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000160957 ENSG00000160957 HGNC:9949 RET gene RET Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Central hypoventilation syndrome, congenital, MIM#209880;Medullary thyroid carcinoma, MIM#155240;Multiple endocrine neoplasia IIA, MIM#171400;Multiple endocrine neoplasia IIB, MIM#162300 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000165731 ENSG00000165731 HGNC:9967 RFX6 gene RFX6 Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mitchell-Riley syndrome, MIM#615710 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000185002 ENSG00000185002 HGNC:21478 RIMS1 gene RIMS1 Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Autism;Cone-rod dystrophy 7 , MIM#603649 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 25284784;12659814 False 1 0;0;100 1.63 True ENSG00000079841 ENSG00000079841 HGNC:17282 RIN2 gene RIN2 Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Macrocephaly, alopecia, cutis laxa, and scoliosis, MIM#613075 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000132669 ENSG00000132669 HGNC:18750 RING1 gene RING1 Expert Review Red;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted microcephaly;intellectual disability Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 29386386 False 1 0;0;100 1.63 True ENSG00000204227 ENSG00000204227 HGNC:10018 RNF135 gene RNF135 Expert Review Red;Genetic Health Queensland;Victorian Clinical Genetics Services Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders Unknown Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000181481 ENSG00000181481 HGNC:21158 RNH1 gene RNH1 Expert Review Red;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder, MONDO:0700092, RNH1-related Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 PMID: 36935417 False 1 0;0;100 1.63 True ENSG00000023191 ENSG00000023191 HGNC:10074 RPL11 gene RPL11 Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Diamond-Blackfan anemia 7, MIM#612562 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000142676 ENSG00000142676 HGNC:10301 RPS19 gene RPS19 Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Diamond-Blackfan anemia 1, MIM#105650 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000105372 ENSG00000105372 HGNC:10402 RPS28 gene RPS28 Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Diamond Blackfan anemia 15 with mandibulofacial dysostosis, MIM#606164 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000233927 ENSG00000233927 HGNC:10418 RUBCN gene RUBCN Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Spinocerebellar ataxia, autosomal recessive 15, MIM#615705 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 30237576;20826435;23728897 False 1 0;0;100 1.63 True ENSG00000145016 ENSG00000145016 HGNC:28991 SALL1 gene SALL1 Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Townes-Brocks syndrome 1, MIM#107480 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000103449 ENSG00000103449 HGNC:10524 SAMD9L gene SAMD9L Expert Review Red;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Intellectual disability Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 33710394 False 1 0;0;100 1.63 True ENSG00000177409 ENSG00000177409 HGNC:1349 SBDS gene SBDS Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Shwachman-Diamond syndrome, MIM#260400 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 19906387 False 1 0;0;100 1.63 True ENSG00000126524 ENSG00000126524 HGNC:19440 SCN11A gene SCN11A Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neuropathy, hereditary sensory and autonomic, type VII, MIM#615548 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000168356 ENSG00000168356 HGNC:10583 SCN9A gene SCN9A Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Epilepsy, generalized, with febrile seizures plus, type 7, MIM#613863;HSAN2D, autosomal recessive, MIM#243000 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000169432 ENSG00000169432 HGNC:10597 SCO1 gene SCO1 Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex IV deficiency, nuclear type 4, MIM# 619048 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 11013136;19295170;31352446;23878101 False 1 0;0;100 1.63 True ENSG00000133028 ENSG00000133028 HGNC:10603 SELENOI gene SELENOI Expert list;Expert Review Red Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal developmental delay;spasticity;periventricular white mater abnormalities;peripheral neuropathy;seizures;bifid uvula in some affected individuals;microcephaly Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 28052917 False 1 0;0;100 1.63 True ENSG00000138018 ENSG00000138018 HGNC:29361 SELENON gene SELENON Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Muscular dystrophy, rigid spine, 1, MIM# 602771;Myopathy, congenital, with fiber-type disproportion, MIM# 255310 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000162430 ENSG00000162430 HGNC:15999 SF3B4 gene SF3B4 Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Acrofacial dysostosis 1, Nager type, MIM#154400 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000143368 ENSG00000143368 HGNC:10771 SGCA gene SGCA Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders Unknown Muscular dystrophy, limb-girdle, autosomal recessive 3, MIM#608099 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000108823 ENSG00000108823 HGNC:10805 SH3TC2 gene SH3TC2 Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Charcot-Marie-Tooth disease, type 4C, MIM#601596 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000169247 ENSG00000169247 HGNC:29427 SHROOM4 gene SHROOM4 Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Stocco dos Santos X-linked mental retardation syndrome, 300434;Intellectual disability Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 16249884;26740508 False 1 0;50;50 1.63 True ENSG00000158352 ENSG00000158352 HGNC:29215 SLC12A1 gene SLC12A1 Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Bartter syndrome, type 1, MIM#601678 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000074803 ENSG00000074803 HGNC:10910 SLC19A2 gene SLC19A2 Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Thiamine-responsive megaloblastic anemia syndrome, MIM#249270 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000117479 ENSG00000117479 HGNC:10938 SLC1A3 gene SLC1A3 Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Episodic ataxia, type 6, MIM#612656 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000079215 ENSG00000079215 HGNC:10941 SLC20A2 gene SLC20A2 Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Basal ganglia calcification, idiopathic, 1, MIM#213600 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000168575 ENSG00000168575 HGNC:10947 SLC22A5 gene SLC22A5 Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders Unknown Carnitine deficiency, systemic primary, MIM#212140 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000197375 ENSG00000197375 HGNC:10969 SLC25A13 gene SLC25A13 Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Citrullinemia, type II, neonatal-onset, MIM#605814 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000004864 ENSG00000004864 HGNC:10983 SLC25A19 gene SLC25A19 Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Microcephaly, Amish type, MIM#607196;Thiamine metabolism dysfunction syndrome 4 (progressive polyneuropathy type), MIM#613710 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 31506564;31295743;12185364;19798730 False 1 0;0;100 1.63 True ENSG00000125454 ENSG00000125454 HGNC:14409 SLC25A20 gene SLC25A20 Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Carnitine-acylcarnitine translocase deficiency, MIM#212138 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000178537 ENSG00000178537 HGNC:1421 SLC25A24 gene SLC25A24 Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Fontaine progeroid syndrome, MIM#612289 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000085491 ENSG00000085491 HGNC:20662 SLC25A4 gene SLC25A4 Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type) AD, MIM#617184;Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type) AR, MIM#615418;Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2, MIM#609283 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000151729 ENSG00000151729 HGNC:10990 SLC29A3 gene SLC29A3 Expert list;Expert Review Red Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Histiocytosis-lymphadenopathy plus syndrome;OMIM #602782 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000198246 ENSG00000198246 HGNC:23096 SLC2A10 gene SLC2A10 Expert list;Expert Review Red Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Arterial tortuosity syndrome;OMIM #208050 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000197496 ENSG00000197496 HGNC:13444 SLC31A1 gene SLC31A1 Expert list;Expert Review Red Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Neurodegeneration and seizures due to copper transport defect, MIM# 620306 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 PMID: 35913762;36562171 False 1 0;0;100 1.63 True ENSG00000136868 ENSG00000136868 HGNC:11016 SLC39A4 gene SLC39A4 Expert list;Expert Review Red Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Acrodermatitis enteropathica;OMIM #201100 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000147804 ENSG00000147804 HGNC:17129 SLC44A1 gene SLC44A1 Expert Review Red;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal progressive ataxia;tremor;cognitive decline;dysphagia;optic atrophy;dysarthria Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 31855247 False 1 100;0;0 1.63 True ENSG00000070214 ENSG00000070214 HGNC:18798 SLC5A2 gene SLC5A2 Expert list;Expert Review Red Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Renal glucosuria;OMIM #233100 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000140675 ENSG00000140675 HGNC:11037 SLC6A4 gene SLC6A4 Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted autism spectrum disorder MONDO:0005258;{Obsessive-compulsive disorder}, MIM# 164230 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 31629822 False 1 0;0;100 1.63 True ENSG00000108576 ENSG00000108576 HGNC:11050 SLC7A7 gene SLC7A7 Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Lysinuric protein intolerance, MIM# 222700 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000155465 ENSG00000155465 HGNC:11065 SLC9A9 gene SLC9A9 Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders Unknown {?Autism susceptibility 16}, MIM# 613410 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 18621663;31134136;27123481;26755066 False 1 0;0;100 1.63 True ENSG00000181804 ENSG00000181804 HGNC:20653 SLX4 gene SLX4 Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Fanconi anaemia, complementation group P, MIM# 613951 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 21240277;21240275;23093618;26453996 False 1 0;0;100 1.63 True ENSG00000188827 ENSG00000188827 HGNC:23845 SMCHD1 gene SMCHD1 Expert list;Expert Review Red Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Bosma arhinia microphthalmia syndrome, OMIM #603457;Fascioscapulohumeral muscular dystrophy 2, digenic;OMIM #158901 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000101596 ENSG00000101596 HGNC:29090 SMG6 gene SMG6 Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders Unknown Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000070366 ENSG00000070366 HGNC:17809 SNRPA gene SNRPA Expert list;Expert Review Red Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal no OMIM # yet Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 PMID: 29437235 False 1 0;0;100 1.63 True ENSG00000077312 ENSG00000077312 HGNC:11151 SNRPE gene SNRPE Expert Review Red;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hypotrichosis 11;OMIM #615059 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 31671093;23246290 False 1 0;0;100 1.63 True ENSG00000182004 ENSG00000182004 HGNC:11161 SOBP gene SOBP Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mental retardation, anterior maxillary protrusion, and strabismus, MIM# 613671 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 21035105 False 1 0;0;100 1.63 True ENSG00000112320 ENSG00000112320 HGNC:29256 SOST gene SOST Expert list;Expert Review Red Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Craniodiaphyseal dysplasia, autosomal dominant, OMIM #122860;Sclerosteosis 1 , OMIM #269500;Van Buchem disease, OMIM #239100 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000167941 ENSG00000167941 HGNC:13771 SOX8 gene SOX8 Expert Review Red;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder (MONDO:0700092), SOX8-related Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 https://www.neurology.org/doi/full/10.1212/NXG.0000000000200088 False 1 0;0;100 1.63 True ENSG00000005513 ENSG00000005513 HGNC:11203 SP7 gene SP7 Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Osteogenesis imperfecta, type XII;OMIM # 613849 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000170374 ENSG00000170374 HGNC:17321 SPAST gene SPAST Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Spastic paraplegia 4, autosomal dominant, MIM# 182601 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000021574 ENSG00000021574 HGNC:11233 SPEG gene SPEG Expert list;Expert Review Red Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Centronuclear myopathy 5;OMIM #615959 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000072195 ENSG00000072195 HGNC:16901 SPG7 gene SPG7 Expert list;Expert Review Red Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Spastic paraplegia 7, autosomal recessive;OMIM #607259 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 50;0;50 1.63 True ENSG00000197912 ENSG00000197912 HGNC:11237 SPINK5 gene SPINK5 Expert list;Expert Review Red Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Netherton syndrome;OMIM #256500 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000133710 ENSG00000133710 HGNC:15464 SPRTN gene SPRTN Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Ruijs-Aalfs syndrome, MIM# 616200 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 25261934 False 1 0;0;100 1.63 True ENSG00000010072 ENSG00000010072 HGNC:25356 SPTBN5 gene SPTBN5 Expert Review Red;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental disorder, MONDO:0700092, SPTBN5-related Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 35782384;36117916;36238261 False 1 50;0;50 1.63 True ENSG00000137877 ENSG00000137877 HGNC:15680 SPTLC1 gene SPTLC1 Expert list;Expert Review Red Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neuropathy, hereditary sensory and autonomic, type IA;OMIM #162400 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000090054 ENSG00000090054 HGNC:11277 SRPX2 gene SRPX2 Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Rolandic epilepsy, mental retardation, and speech dyspraxia, MIM# 300643 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 16497722;23933820;23871722 False 1 0;0;100 1.63 True ENSG00000102359 ENSG00000102359 HGNC:30668 ST7 gene ST7 Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders Unknown Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000004866 ENSG00000004866 HGNC:11351 STAC3 gene STAC3 Expert list;Expert Review Red Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Myopathy, congenital, Baily-Bloch;OMIM #255995 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000185482 ENSG00000185482 HGNC:28423 STAT5B gene STAT5B Expert list;Expert Review Red Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Growth hormone insensitivity with immunodeficiency;OMIM #245590 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000173757 ENSG00000173757 HGNC:11367 STK3 gene STK3 Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders Unknown Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000104375 ENSG00000104375 HGNC:11406 STT3B gene STT3B Expert list;Expert Review Red Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal ?Congenital disorder of glycosylation, type Ix;OMIM #615597 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 PMID: 23842455 False 1 0;0;100 1.63 True ENSG00000163527 ENSG00000163527 HGNC:30611 STX11 gene STX11 Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Hemophagocytic lymphohistiocytosis, familial, 4, MIM# 603552 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000135604 ENSG00000135604 HGNC:11429 SYT14 gene SYT14 Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Spinocerebellar ataxia, autosomal recessive 11, MIM# 614229 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 21835308 False 1 0;0;100 1.63 True ENSG00000143469 ENSG00000143469 HGNC:23143 TDGF1 gene TDGF1 Expert list;Expert Review Red Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 PMID: 12073012 False 1 0;0;100 1.63 True ENSG00000241186 ENSG00000241186 HGNC:11701 TECR gene TECR Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mental retardation, autosomal recessive, MIM#614020 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 21212097 False 1 0;0;100 1.63 True ENSG00000099797 ENSG00000099797 HGNC:4551 TFAP2A gene TFAP2A Expert list;Expert Review Red Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Branchiooculofacial syndrome;OMIM #113620 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000137203 ENSG00000137203 HGNC:11742 TFAP2B gene TFAP2B Expert list;Expert Review Red Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Char syndrome, OMIM #169100;Patent ductus arteriosus 2, OMIM #617035 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000008196 ENSG00000008196 HGNC:11743 TFG gene TFG Expert list;Expert Review Red Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal ?Spastic paraplegia 57, autosomal recessive, OMIM #615658;Hereditary motor and sensory neuropathy, Okinawa type, OMIM #604484 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000114354 ENSG00000114354 HGNC:11758 TG gene TG Expert list;Expert Review Red Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Thyroid dyshormonogenesis 3;OMIM #274700 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000042832 ENSG00000042832 HGNC:11764 TGFBR1 gene TGFBR1 Expert list;Expert Review Red Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Loeys-Dietz syndrome 1;OMIM #609192 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000106799 ENSG00000106799 HGNC:11772 TGFBR2 gene TGFBR2 Expert list;Expert Review Red Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Loeys-Dietz syndrome 2;OMIM #610168 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000163513 ENSG00000163513 HGNC:11773 THAP1 gene THAP1 Expert list;Expert Review Red Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Dystonia 6, torsion;OMIM #602629 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000131931 ENSG00000131931 HGNC:20856 TIMM8A gene TIMM8A Expert list;Expert Review Red Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Mohr-Tranebjaerg syndrome;OMIM #304700 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000126953 ENSG00000126953 HGNC:11817 TMEM260 gene TMEM260 Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Structural heart defects and renal anomalies syndrome, MIM# 617478 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 28318500 False 1 0;0;100 1.63 True ENSG00000070269 ENSG00000070269 HGNC:20185 TMLHE gene TMLHE Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females {Autism, susceptibility to, X-linked 6} 300872 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 21865298 False 1 0;100;0 1.63 True ENSG00000185973 ENSG00000185973 HGNC:18308 TP63 gene TP63 Expert list;Expert Review Red Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted ADULT syndrome, OMIM #103285;Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3, OMIM #604292;Hay-Wells syndrome, OMIM #106260;Limb-mammary syndrome, OMIM #603543;Orofacial cleft 8, OMIM #618149;Rapp-Hodgkin syndrome, OMIM #129400;Split-hand/foot malformation 4, OMIM #605289 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000073282 ENSG00000073282 HGNC:15979 TPH2 gene TPH2 Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted {Attention deficit-hyperactivity disorder, susceptibility to, 7} 613003 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 18347598 False 1 0;0;100 1.63 True ENSG00000139287 ENSG00000139287 HGNC:20692 TPK1 gene TPK1 Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type), MIM# 614458 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000196511 ENSG00000196511 HGNC:17358 TPR gene TPR Expert Review Red;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Intellectual developmental disorder, autosomal recessive 79, MIM# 620393 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 34494102 False 1 0;0;100 1.63 True ENSG00000047410 ENSG00000047410 HGNC:12017 TRAPPC6A gene TRAPPC6A Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders Unknown Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000007255 ENSG00000007255 HGNC:23069 TREM2 gene TREM2 Expert list;Expert Review Red Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders Unknown Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2;OMIM #618193 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000095970 ENSG00000095970 HGNC:17761 TRHR gene TRHR Expert list;Expert Review Red Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Hypothyroidism, congenital, nongoitrous, 7;OMIM #618573 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000174417 ENSG00000174417 HGNC:12299 TRIM32 gene TRIM32 Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Bardet-Biedl syndrome 11, MIM# 615988 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 16606853 False 1 0;0;100 1.63 True ENSG00000119401 ENSG00000119401 HGNC:16380 TRIM37 gene TRIM37 Expert list;Expert Review Red Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mulibrey nanism;OMIM #253250 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000108395 ENSG00000108395 HGNC:7523 TSEN34 gene TSEN34 Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Pontocerebellar hypoplasia type 2C, MIM# 612390 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 18711368 False 1 0;0;100 1.63 True ENSG00000170892 ENSG00000170892 HGNC:15506 TSHR gene TSHR Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Hypothyroidism, congenital, nongoitrous, 1, MIM# 275200 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000165409 ENSG00000165409 HGNC:12373 TTC21B gene TTC21B Expert list;Expert Review Red Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Nephronophthisis 12, OMIM #613820;Short-rib thoracic dysplasia 4 with or without polydactyly;OMIM #613819 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000123607 ENSG00000123607 HGNC:25660 TTR gene TTR Expert list;Expert Review Red Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Amyloidosis, hereditary, transthyretin-related, OMIM #105210;Carpal tunnel syndrome, familial;OMIM #115430 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000118271 ENSG00000118271 HGNC:12405 TUBA8 gene TUBA8 Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Cortical dysplasia, complex, with other brain malformations 8, MIM# 613180 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 19896110;31481326;28388629 False 1 0;0;100 1.63 True ENSG00000183785 ENSG00000183785 HGNC:12410 TWNK gene TWNK Expert list;Expert Review Red Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Mitochondrial DNA depletion syndrome 7 (hepatocerebral type), OMIM #271245;Perrault syndrome 5, OMIM #616138;Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3, OMIM #609286 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000107815 ENSG00000107815 HGNC:1160 TXNL4A gene TXNL4A Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Burn-McKeown syndrome, MIM# 608572 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000141759 ENSG00000141759 HGNC:30551 UBE2U gene UBE2U Expert Review Red;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Retinoschisis;cataracts;learning disabilities;developmental delay Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 PMID: 33776059 False 1 0;0;100 1.63 True ENSG00000177414 ENSG00000177414 HGNC:28559 UBR4 gene UBR4 Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Episodic ataxia Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 29062094;23982692;28600779 False 1 0;50;50 1.63 True ENSG00000127481 ENSG00000127481 HGNC:30313 UCHL1 gene UCHL1 Expert list;Expert Review Red Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia 79, autosomal recessive;OMIM #615491 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000154277 ENSG00000154277 HGNC:12513 UGT1A1 gene UGT1A1 Expert list;Expert Review Red Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Crigler-Najjar syndrome, type I, OMIM #218800;Crigler-Najjar syndrome, type II, OMIM #606785 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000241635 ENSG00000241635 HGNC:12530 UNC13D gene UNC13D Expert list;Expert Review Red Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Hemophagocytic lymphohistiocytosis, familial, 3;OMIM #608898 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000092929 ENSG00000092929 HGNC:23147 UQCRB gene UQCRB Expert list;Expert Review Red Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex III deficiency, nuclear type 3;OMIM #615158 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 PubMed: 12709789;28604960 False 1 0;0;100 1.63 True ENSG00000156467 ENSG00000156467 HGNC:12582 UQCRC2 gene UQCRC2 Expert list;Expert Review Red Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex III deficiency, nuclear type 5;OMIM #615160 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000140740 ENSG00000140740 HGNC:12586 UQCRQ gene UQCRQ Expert list;Expert Review Red Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex III deficiency, nuclear type 4;OMIM #615159 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 PubMed: 18439546 False 1 0;100;0 1.63 True ENSG00000164405 ENSG00000164405 HGNC:29594 UROC1 gene UROC1 Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Urocanase deficiency, MIM#276880 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 19304569;30619714 False 1 0;0;100 1.63 True ENSG00000159650 ENSG00000159650 HGNC:26444 VAMP1 gene VAMP1 Expert list;Expert Review Red Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Spastic ataxia 1, autosomal dominant, OMIM #108600;Myasthenic syndrome, congenital, 25, OMIM #618323 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000139190 ENSG00000139190 HGNC:12642 VANGL1 gene VANGL1 Expert list;Expert Review Red Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Caudal regression syndrome, OMIM #600145;{Neural tube defects, susceptibility to}, OMIM #182940 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000173218 ENSG00000173218 HGNC:15512 VPS45 gene VPS45 Expert list;Expert Review Red Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Neutropenia, severe congenital, 5, autosomal recessive;OMIM #615285 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000136631 ENSG00000136631 HGNC:14579 WASHC3 gene WASHC3 Expert Review Red;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal neurodevelopmental disorder MONDO:0700092, WASHC3 related Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 DOI: https://doi.org/10.1016/j.gimo.2024.101915 False 1 0;0;100 1.63 True ENSG00000120860 ENSG00000120860 HGNC:24256 WASHC5 gene WASHC5 Expert list;Expert Review Red Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Spastic paraplegia 8, autosomal dominant, OMIM #603563;Ritscher-Schinzel syndrome 1;OMIM #220210 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 PubMed: 24065355 False 1 0;100;0 1.63 True ENSG00000164961 ENSG00000164961 HGNC:28984 WDR13 gene WDR13 Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders Unknown Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000101940 ENSG00000101940 HGNC:14352 WDR19 gene WDR19 Expert list;Expert Review Red Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal ?Short-rib thoracic dysplasia 5 with or without polydactyly, OMIM #614376;Nephronophthisis 13, OMIM #614377;Senior-Loken syndrome 8, OMIM#616307 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000157796 ENSG00000157796 HGNC:18340 WDR34 gene WDR34 Expert list;Expert Review Red Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Short-rib thoracic dysplasia 11 with or without polydactyly;OMIM #615633 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000119333 ENSG00000119333 HGNC:28296 WRAP53 gene WRAP53 Expert list;Expert Review Red Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Dyskeratosis congenita, autosomal recessive 3;OMIM# 613988 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000141499 ENSG00000141499 HGNC:25522 XIST gene XIST Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders Unknown Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000229807 ENSG00000229807 HGNC:12810 XPNPEP3 gene XPNPEP3 Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Nephronophthisis-like nephropathy 1, OMIM #613159 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 20179356 False 1 0;0;100 1.63 True ENSG00000196236 ENSG00000196236 HGNC:28052 YWHAZ gene YWHAZ Expert Review Red;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Intellectual disability, MONDO:0001071 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 36001342 False 1 0;0;100 1.63 True ENSG00000164924 ENSG00000164924 HGNC:12855 ZCCHC12 gene ZCCHC12 Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders Unknown Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000174460 ENSG00000174460 HGNC:27273 ZDHHC15 gene ZDHHC15 Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Intellectual disability, X-linked 91, 300577 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 34345675;32989326 False 1 0;0;100 1.63 True ENSG00000102383 ENSG00000102383 HGNC:20342 ZFP57 gene ZFP57 Expert list;Expert Review Red Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed) {Diabetes mellitus, transient neonatal, 1};OMIM# 601410 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000204644 ENSG00000204644 HGNC:18791 ZNF41 gene ZNF41 Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females non-syndromic X-linked intellectual disability MONDO:0019181 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 14628291;23871722 False 1 0;0;100 1.63 True ENSG00000147124 ENSG00000147124 HGNC:13107 ZNF423 gene ZNF423 Expert list;Expert Review Red Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Joubert syndrome 19, OMIM# 614844 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 PMID: 22863007 False 1 0;100;0 1.63 True ENSG00000102935 ENSG00000102935 HGNC:16762 ZNF507 gene ZNF507 Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders Unknown Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000168813 ENSG00000168813 HGNC:23783 ZNF674 gene ZNF674 Expert list;Expert Review Red Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 16385466 False 1 0;0;100 1.63 True ENSG00000251192 ENSG00000251192 HGNC:17625 ZNF804A gene ZNF804A Expert list;Expert Review Red Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders Unknown Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000170396 ENSG00000170396 HGNC:21711 ZNF81 gene ZNF81 Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females X-linked intellectual disability MONDO:0100284 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 15121780 False 1 0;33;67 1.63 True ENSG00000197779 ENSG00000197779 HGNC:13156 ZNHIT6 gene ZNHIT6 Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders Unknown Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000117174 ENSG00000117174 HGNC:26089 DM1 str DMPK Expert Review Green;Expert list Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Myotonic dystrophy 1 MIM#160900 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 20301344;29325606 False 3 100;0;0 1.63 True ENSG00000104936 ENSG00000104936 HGNC:2933 19 46273463 46273522 45770205 45770264 CTG 34 50 FRAXE str AFF2 Expert Review Green;Expert list Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Fragile X syndrome, FRAXE type (OMIM 309548) Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 8334699;8673085;11388762 False 3 100;0;0 1.63 True ENSG00000155966 ENSG00000155966 HGNC:3776 X 147582158 147582202 148500638 148500682 GCC 44 200 FRA12A str DIP2B Expert Review Amber;Other Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Mental retardation, FRA12A type MIM#136630 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 17236128 False 2 0;100;0 1.63 True ENSG00000066084 ENSG00000066084 HGNC:29284 12 50898787 50898807 50505004 50505024 CGG 23 280