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 ADNP gene ADNP Expert Review Green;Victorian Clinical Genetics Services Autism Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Helsmoortel-van der Aa syndrome MIM#615873;MONDO:0014379 Autism;HP:0000717 24531329;25057125;25533962;29724491;29911927 False 3 100;0;0 0.205 True ENSG00000101126 ENSG00000101126 HGNC:15766 ADSL gene ADSL Expert Review Green;Victorian Clinical Genetics Services Autism Neurology and neurodevelopmental disorders Unknown Autism;HP:0000717 False 3 0;0;0 0.205 False ENSG00000239900 ENSG00000239900 HGNC:291 AHDC1 gene AHDC1 Expert Review Green;Victorian Clinical Genetics Services Autism Neurology and neurodevelopmental disorders Unknown Autism;HP:0000717 False 3 0;0;0 0.205 False ENSG00000126705 ENSG00000126705 HGNC:25230 AHI1 gene AHI1 Expert Review Green;Victorian Clinical Genetics Services Autism Neurology and neurodevelopmental disorders Unknown Autism;HP:0000717 False 3 0;0;0 0.205 False ENSG00000135541 ENSG00000135541 HGNC:21575 ALDH5A1 gene ALDH5A1 Expert Review Green;Victorian Clinical Genetics Services Autism Neurology and neurodevelopmental disorders Unknown Autism;HP:0000717 False 3 0;0;0 0.205 False ENSG00000112294 ENSG00000112294 HGNC:408 ALG6 gene ALG6 Expert Review Green;Victorian Clinical Genetics Services Autism Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type Ic (MIM#603147) Autism;HP:0000717 10914684;27498540 False 3 100;0;0 0.205 True ENSG00000088035 ENSG00000088035 HGNC:23157 ANK2 gene ANK2 Expert Review Green;Victorian Clinical Genetics Services Autism Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Complex neurodevelopmental disorder, MONDO:0100038 Autism;HP:0000717 22542183;25363768;27479843;28554332;30564305;30755392;31981491;33004838;33057194 False 3 100;0;0 0.205 True ENSG00000145362 ENSG00000145362 HGNC:493 ANKRD11 gene ANKRD11 Expert Review Green;Victorian Clinical Genetics Services Autism Neurology and neurodevelopmental disorders Unknown Autism;HP:0000717 False 3 0;0;0 0.205 False ENSG00000167522 ENSG00000167522 HGNC:21316 ARID1B gene ARID1B Expert Review Green;Victorian Clinical Genetics Services Autism Neurology and neurodevelopmental disorders Unknown Autism;HP:0000717 False 3 0;0;0 0.205 False ENSG00000049618 ENSG00000049618 HGNC:18040 ARX gene ARX Expert Review Green;Victorian Clinical Genetics Services Autism Neurology and neurodevelopmental disorders Unknown Autism;HP:0000717 False 3 0;0;0 0.205 False ENSG00000004848 ENSG00000004848 HGNC:18060 ASH1L gene ASH1L Expert list;Expert Review Green;Victorian Clinical Genetics Services Autism Neurology and neurodevelopmental disorders Unknown Autism;HP:0000717 False 3 100;0;0 0.205 False ENSG00000116539 ENSG00000116539 HGNC:19088 ASXL3 gene ASXL3 Expert Review Green;Victorian Clinical Genetics Services Autism Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Bainbridge-Ropers syndrome (OMIM # 615485) Autism;HP:0000717 28100473;27901041;23383720 False 3 100;0;0 0.205 True ENSG00000141431 ENSG00000141431 HGNC:29357 BAZ2B gene BAZ2B Expert Review Green;Literature Autism Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Intellectual disability;autism Autism;HP:0000717 31999386;28135719;25363768 False 3 100;0;0 0.205 True ENSG00000123636 ENSG00000123636 HGNC:963 BCKDK gene BCKDK Expert Review Green;Victorian Clinical Genetics Services Autism Neurology and neurodevelopmental disorders Unknown Autism;HP:0000717 False 3 0;0;0 0.205 False ENSG00000103507 ENSG00000103507 HGNC:16902 BCL11A gene BCL11A Expert Review Green;Victorian Clinical Genetics Services Autism Neurology and neurodevelopmental disorders Unknown Autism;HP:0000717 False 3 0;0;0 0.205 False ENSG00000119866 ENSG00000119866 HGNC:13221 BICRA gene BICRA Expert Review Green;Literature Autism 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 Autism;HP:0000717 33232675 False 3 100;0;0 0.205 True ENSG00000063169 ENSG00000063169 HGNC:4332 BRAF gene BRAF Expert Review Green;Victorian Clinical Genetics Services Autism Neurology and neurodevelopmental disorders Unknown Autism;HP:0000717 False 3 0;0;0 0.205 False ENSG00000157764 ENSG00000157764 HGNC:1097 C12orf57 gene C12orf57 Expert Review Green;Victorian Clinical Genetics Services Autism Neurology and neurodevelopmental disorders Unknown Autism;HP:0000717 False 3 0;0;0 0.205 False ENSG00000111678 ENSG00000111678 HGNC:29521 CACNA1C gene CACNA1C Expert Review Green;Victorian Clinical Genetics Services Autism Neurology and neurodevelopmental disorders Unknown Autism;HP:0000717 False 3 0;0;0 0.205 False ENSG00000151067 ENSG00000151067 HGNC:1390 CDKL5 gene CDKL5 Expert Review Green;Victorian Clinical Genetics Services Autism Neurology and neurodevelopmental disorders Unknown Autism;HP:0000717 False 3 0;0;0 0.205 False ENSG00000008086 ENSG00000008086 HGNC:11411 CHD2 gene CHD2 Expert Review Green;Victorian Clinical Genetics Services Autism Neurology and neurodevelopmental disorders Unknown Autism;HP:0000717 False 3 0;0;0 0.205 False ENSG00000173575 ENSG00000173575 HGNC:1917 CHD7 gene CHD7 Expert Review Green;Victorian Clinical Genetics Services Autism Neurology and neurodevelopmental disorders Unknown Autism;HP:0000717 False 3 0;0;0 0.205 False ENSG00000171316 ENSG00000171316 HGNC:20626 CHD8 gene CHD8 Expert Review Green;Victorian Clinical Genetics Services Autism Neurology and neurodevelopmental disorders Unknown Autism;HP:0000717 False 3 0;0;0 0.205 False ENSG00000100888 ENSG00000100888 HGNC:20153 CHKB gene CHKB Expert Review Green;Victorian Clinical Genetics Services Autism Neurology and neurodevelopmental disorders Unknown Autism;HP:0000717 False 3 0;0;0 0.205 False ENSG00000100288 ENSG00000100288 HGNC:1938 CLCN4 gene CLCN4 Expert Review Green;Literature Autism 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;autism;intellectual disability;hypoplasia or agenesis of the corpus callosum;bipolar" Autism;HP:0000717 PMID: 27550844 False 3 100;0;0 0.205 True ENSG00000073464 ENSG00000073464 HGNC:2022 CNKSR2 gene CNKSR2 Expert Review Green;Victorian Clinical Genetics Services Autism Neurology and neurodevelopmental disorders Unknown Autism;HP:0000717 False 3 0;0;0 0.205 False ENSG00000149970 ENSG00000149970 HGNC:19701 CNOT3 gene CNOT3 Expert Review Green;Victorian Clinical Genetics Services Autism Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Intellectual developmental disorder with speech delay, autism, and dysmorphic facies, MIM# 618672 Autism;HP:0000717 31201375 False 3 100;0;0 0.205 True ENSG00000088038 ENSG00000088038 HGNC:7879 CNTNAP2 gene CNTNAP2 Expert Review Green;Victorian Clinical Genetics Services Autism Neurology and neurodevelopmental disorders Unknown Autism;HP:0000717 False 3 0;0;0 0.205 False ENSG00000174469 ENSG00000174469 HGNC:13830 CSDE1 gene CSDE1 Expert Review Green;Literature Autism Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental disorder, MONDO:0700092, CSDE1-related Autism;HP:0000717 31579823 False 3 100;0;0 0.205 True ENSG00000009307 ENSG00000009307 HGNC:29905 CUL3 gene CUL3 Expert Review Green;Victorian Clinical Genetics Services Autism Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Neurodevelopmental disorder with or without autism or seizures 619239" Autism;HP:0000717 22495309;22914163;25363760;27824329 False 3 100;0;0 0.205 True ENSG00000036257 ENSG00000036257 HGNC:2553 DDX3X gene DDX3X Expert Review Green;Victorian Clinical Genetics Services Autism Neurology and neurodevelopmental disorders Unknown Autism;HP:0000717 False 3 0;0;0 0.205 False ENSG00000215301 ENSG00000215301 HGNC:2745 DDX53 gene DDX53 Expert Review Green;Literature Autism Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females autism spectrum disorder MONDO:0005258 Autism;HP:0000717 PMID: 39706195 False 3 100;0;0 0.205 False ENSG00000184735 ENSG00000184735 HGNC:20083 DEAF1 gene DEAF1 Expert Review Green;Victorian Clinical Genetics Services Autism Neurology and neurodevelopmental disorders Unknown Autism;HP:0000717 False 3 0;0;0 0.205 False ENSG00000177030 ENSG00000177030 HGNC:14677 DHCR7 gene DHCR7 Expert Review Green;Victorian Clinical Genetics Services Autism Neurology and neurodevelopmental disorders Unknown Autism;HP:0000717 False 3 0;0;0 0.205 False ENSG00000172893 ENSG00000172893 HGNC:2860 DMD gene DMD Expert Review Green;Victorian Clinical Genetics Services Autism Neurology and neurodevelopmental disorders Unknown Autism;HP:0000717 False 3 0;0;0 0.205 False ENSG00000198947 ENSG00000198947 HGNC:2928 DSCAM gene DSCAM Expert Review Green;Victorian Clinical Genetics Services Autism Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Autism Autism;HP:0000717 PMID: 27824329;28191889;21904980 False 3 100;0;0 0.205 True ENSG00000171587 ENSG00000171587 HGNC:3039 DYRK1A gene DYRK1A Expert Review Green;Victorian Clinical Genetics Services Autism Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Mental retardation, autosomal dominant 7, MIM# 614104;MONDO:0013578 Autism;HP:0000717 25707398;21294719;23160955;23099646;33159716 False 3 100;0;0 0.205 True ENSG00000157540 ENSG00000157540 HGNC:3091 EHMT1 gene EHMT1 Expert Review Green;Victorian Clinical Genetics Services Autism Neurology and neurodevelopmental disorders Unknown Autism;HP:0000717 False 3 0;0;0 0.205 False ENSG00000181090 ENSG00000181090 HGNC:24650 EP300 gene EP300 Expert Review Green;Victorian Clinical Genetics Services Autism Neurology and neurodevelopmental disorders Unknown Autism;HP:0000717 False 3 0;0;0 0.205 False ENSG00000100393 ENSG00000100393 HGNC:3373 FMR1 gene FMR1 Expert Review Green;Victorian Clinical Genetics Services Autism Neurology and neurodevelopmental disorders Unknown Autism;HP:0000717 False 3 0;0;0 0.205 False ENSG00000102081 ENSG00000102081 HGNC:3775 FOXP1 gene FOXP1 Expert Review Green;Victorian Clinical Genetics Services Autism Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Mental retardation with language impairment and with or without autistic features, MIM# 613670 Autism;HP:0000717 26633542;28741757;34109629 False 3 100;0;0 0.205 True ENSG00000114861 ENSG00000114861 HGNC:3823 GATM gene GATM Expert Review Green;Victorian Clinical Genetics Services Autism Neurology and neurodevelopmental disorders Unknown Autism;HP:0000717 False 3 0;0;0 0.205 False ENSG00000171766 ENSG00000171766 HGNC:4175 GRIN2B gene GRIN2B Expert Review Green;Victorian Clinical Genetics Services Autism Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Mental retardation, autosomal dominant 6, MIM# 613970;Epileptic encephalopathy, early infantile, 27, MIM# 616139 Autism;HP:0000717 28377535 False 3 100;0;0 0.205 True ENSG00000273079 ENSG00000273079 HGNC:4586 GRIP1 gene GRIP1 Expert Review Green;Victorian Clinical Genetics Services Autism Neurology and neurodevelopmental disorders Unknown Autism;HP:0000717 False 3 0;0;0 0.205 False ENSG00000155974 ENSG00000155974 HGNC:18708 HCN1 gene HCN1 Expert Review Green;Victorian Clinical Genetics Services Autism Neurology and neurodevelopmental disorders Unknown Autism;HP:0000717 False 3 0;0;0 0.205 False ENSG00000164588 ENSG00000164588 HGNC:4845 HEPACAM gene HEPACAM Expert Review Green;Victorian Clinical Genetics Services Autism Neurology and neurodevelopmental disorders Unknown Autism;HP:0000717 False 3 0;0;0 0.205 False ENSG00000165478 ENSG00000165478 HGNC:26361 HERC2 gene HERC2 Expert Review Green;Victorian Clinical Genetics Services Autism Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mental retardation, autosomal recessive 38 (MIM 615516) Autism;HP:0000717 23065719;23243086;30902390;32571899;27848944;26077850;27759030 False 3 100;0;0 0.205 True ENSG00000128731 ENSG00000128731 HGNC:4868 HOXA1 gene HOXA1 Expert Review Green;Victorian Clinical Genetics Services Autism Neurology and neurodevelopmental disorders Unknown Autism;HP:0000717 False 3 0;0;0 0.205 False ENSG00000105991 ENSG00000105991 HGNC:5099 IQSEC2 gene IQSEC2 Expert Review Green;Victorian Clinical Genetics Services Autism 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" Autism;HP:0000717 31415821;20473311;30842726;33368194;23674175 False 3 100;0;0 0.205 True ENSG00000124313 ENSG00000124313 HGNC:29059 KAT6A gene KAT6A Expert Review Green;Victorian Clinical Genetics Services Autism Neurology and neurodevelopmental disorders Unknown Autism;HP:0000717 False 3 0;0;0 0.205 False ENSG00000083168 ENSG00000083168 HGNC:13013 KDM5B gene KDM5B Expert Review Green;Victorian Clinical Genetics Services Autism Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Neurodevelopmental disorder (MONDO#0700092), KDM5B-related, autosomal dominant;Intellectual developmental disorder, autosomal recessive 65 (MIM#618109) Autism;HP:0000717 29276005;30217758;30409806 False 3 100;0;0 0.205 True ENSG00000117139 ENSG00000117139 HGNC:18039 KMT2A gene KMT2A Expert Review Green;Victorian Clinical Genetics Services Autism Neurology and neurodevelopmental disorders Unknown Autism;HP:0000717 False 3 0;0;0 0.205 False ENSG00000118058 ENSG00000118058 HGNC:7132 KMT2C gene KMT2C Expert Review Green;Victorian Clinical Genetics Services Autism Neurology and neurodevelopmental disorders Unknown Autism;HP:0000717 False 3 0;0;0 0.205 False ENSG00000055609 ENSG00000055609 HGNC:13726 KMT5B gene KMT5B Expert list;Expert Review Green;Victorian Clinical Genetics Services Autism Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Mental retardation, autosomal dominant 51, MIM#617788 Autism;HP:0000717 25363768;28191889;29276005 False 3 100;0;0 0.205 True ENSG00000110066 ENSG00000110066 HGNC:24283 LARP1 gene LARP1 Expert Review Green;Other Autism Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental disorder;MONDO:0700092 Autism;HP:0000717 39182167 False 3 100;0;0 0.205 True ENSG00000155506 ENSG00000155506 HGNC:29531 MADD gene MADD Expert Review Green;Victorian Clinical Genetics Services Autism Neurology and neurodevelopmental disorders Unknown Autism;HP:0000717 False 3 0;0;0 0.205 False ENSG00000110514 ENSG00000110514 HGNC:6766 MAGEL2 gene MAGEL2 Expert Review Green;Victorian Clinical Genetics Services Autism Neurology and neurodevelopmental disorders Unknown Autism;HP:0000717 False 3 100;0;0 0.205 False ENSG00000254585 ENSG00000254585 HGNC:6814 MARK2 gene MARK2 Expert Review Green;Literature Autism Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental disorder MONDO:0700092 Autism;HP:0000717 PMID: 39419027, 39436150 False 3 100;0;0 0.205 True ENSG00000072518 ENSG00000072518 HGNC:3332 MBD5 gene MBD5 Expert Review Green;Victorian Clinical Genetics Services Autism Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Mental retardation, autosomal dominant 1, MIM# 156200;MONDO:0007974 Autism;HP:0000717 18812405;21981781;23708187;22726846;33912662 False 3 100;0;0 0.205 True ENSG00000204406 ENSG00000204406 HGNC:20444 MBOAT7 gene MBOAT7 Expert Review Green;Victorian Clinical Genetics Services Autism Neurology and neurodevelopmental disorders Unknown Autism;HP:0000717 False 3 0;0;0 0.205 False ENSG00000125505 ENSG00000125505 HGNC:15505 MECP2 gene MECP2 Expert Review Green;Victorian Clinical Genetics Services Autism Neurology and neurodevelopmental disorders Unknown Autism;HP:0000717 False 3 0;0;0 0.205 False ENSG00000169057 ENSG00000169057 HGNC:6990 MED13L gene MED13L Expert Review Green;Victorian Clinical Genetics Services Autism Neurology and neurodevelopmental disorders Unknown Autism;HP:0000717 False 3 0;0;0 0.205 False ENSG00000123066 ENSG00000123066 HGNC:22962 MEF2C gene MEF2C Expert Review Green;Victorian Clinical Genetics Services Autism Neurology and neurodevelopmental disorders Unknown Autism;HP:0000717 False 3 0;0;0 0.205 False ENSG00000081189 ENSG00000081189 HGNC:6996 MYT1L gene MYT1L Expert Review Green;Literature Autism Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Mental retardation, autosomal dominant 39, MIM# 616521" Autism;HP:0000717 PMID: 32065501 False 3 100;0;0 0.205 True ENSG00000186487 ENSG00000186487 HGNC:7623 NAA15 gene NAA15 Expert Review Green;Victorian Clinical Genetics Services Autism Neurology and neurodevelopmental disorders Unknown Autism;HP:0000717 False 3 0;0;0 0.205 False ENSG00000164134 ENSG00000164134 HGNC:30782 NACC1 gene NACC1 Expert Review Green;Victorian Clinical Genetics Services Autism Neurology and neurodevelopmental disorders Unknown Autism;HP:0000717 False 3 0;0;0 0.205 False ENSG00000160877 ENSG00000160877 HGNC:20967 NCKAP1 gene NCKAP1 Expert Review Green;Victorian Clinical Genetics Services Autism Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental disorder (MONDO#0700092) , NCKAP1-related Autism;HP:0000717 33157009 False 3 100;0;0 0.205 True ENSG00000061676 ENSG00000061676 HGNC:7666 NF1 gene NF1 Expert Review Green;Victorian Clinical Genetics Services Autism Neurology and neurodevelopmental disorders Unknown Autism;HP:0000717 False 3 0;0;0 0.205 False ENSG00000196712 ENSG00000196712 HGNC:7765 NFIX gene NFIX Expert Review Green;Victorian Clinical Genetics Services Autism Neurology and neurodevelopmental disorders Unknown Autism;HP:0000717 False 3 0;0;0 0.205 False ENSG00000008441 ENSG00000008441 HGNC:7788 NIPBL gene NIPBL Expert Review Green;Victorian Clinical Genetics Services Autism Neurology and neurodevelopmental disorders Unknown Autism;HP:0000717 False 3 0;0;0 0.205 False ENSG00000164190 ENSG00000164190 HGNC:28862 NLGN3 gene NLGN3 Expert Review Green;Victorian Clinical Genetics Services Autism 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 Autism;HP:0000717 28584888;12669065;25167861 False 3 100;0;0 0.205 True ENSG00000196338 ENSG00000196338 HGNC:14289 NLGN4X gene NLGN4X Expert list;Expert Review Green Autism 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 - MIM#300495 Autism;HP:0000717 PMID:26350204;PMID:14963808;PMID:12669065;PMID:23352163;PMID:28263302;PMID:16648374 False 3 50;50;0 0.205 True ENSG00000146938 ENSG00000146938 HGNC:14287 NR2F1 gene NR2F1 Expert Review Green;Victorian Clinical Genetics Services Autism Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Bosch-Boonstra-Schaaf optic atrophy syndrome, MIM# 615722 Autism;HP:0000717 32275123 False 3 100;0;0 0.205 True ENSG00000175745 ENSG00000175745 HGNC:7975 NRXN1 gene NRXN1 Expert Review Green;Victorian Clinical Genetics Services Autism Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Pitt-Hopkins-like syndrome 2 - MIM#614325 Autism;HP:0000717 25486015;19896112;21964664;30873608;35101781;22337556;22670139 False 3 100;0;0 0.205 True ENSG00000179915 ENSG00000179915 HGNC:8008 NSD1 gene NSD1 Expert Review Green;Victorian Clinical Genetics Services Autism Neurology and neurodevelopmental disorders Unknown Autism;HP:0000717 False 3 0;0;0 0.205 False ENSG00000165671 ENSG00000165671 HGNC:14234 OCRL gene OCRL Expert Review Green;Victorian Clinical Genetics Services Autism Neurology and neurodevelopmental disorders Unknown Autism;HP:0000717 False 3 0;0;0 0.205 False ENSG00000122126 ENSG00000122126 HGNC:8108 PACS1 gene PACS1 Expert Review Green;Victorian Clinical Genetics Services Autism Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Schuurs-Hoeijmakers syndrome (MIM# 615009) Autism;HP:0000717 26842493;23159249 False 3 100;0;0 0.205 True ENSG00000175115 ENSG00000175115 HGNC:30032 PAX6 gene PAX6 Expert Review Green;Victorian Clinical Genetics Services Autism Neurology and neurodevelopmental disorders Unknown Autism;HP:0000717 False 3 0;0;0 0.205 False ENSG00000007372 ENSG00000007372 HGNC:8620 PCCA gene PCCA Expert Review Green;Victorian Clinical Genetics Services Autism Neurology and neurodevelopmental disorders Unknown Autism;HP:0000717 False 3 0;0;0 0.205 False ENSG00000175198 ENSG00000175198 HGNC:8653 PCCB gene PCCB Expert Review Green;Victorian Clinical Genetics Services Autism Neurology and neurodevelopmental disorders Unknown Autism;HP:0000717 False 3 0;0;0 0.205 False ENSG00000114054 ENSG00000114054 HGNC:8654 PCDH19 gene PCDH19 Expert Review Green;Victorian Clinical Genetics Services Autism Neurology and neurodevelopmental disorders Unknown Autism;HP:0000717 False 3 0;0;0 0.205 False ENSG00000165194 ENSG00000165194 HGNC:14270 PIK3R2 gene PIK3R2 Expert Review Green;Victorian Clinical Genetics Services Autism Neurology and neurodevelopmental disorders Unknown Autism;HP:0000717 False 3 0;0;0 0.205 False ENSG00000105647 ENSG00000105647 HGNC:8980 POGZ gene POGZ Expert Review Green;Victorian Clinical Genetics Services Autism Neurology and neurodevelopmental disorders Unknown Autism;HP:0000717 False 3 0;0;0 0.205 False ENSG00000143442 ENSG00000143442 HGNC:18801 PPP2R5D gene PPP2R5D Expert Review Green;Victorian Clinical Genetics Services Autism Neurology and neurodevelopmental disorders Unknown Autism;HP:0000717 False 3 0;0;0 0.205 False ENSG00000112640 ENSG00000112640 HGNC:9312 PRODH gene PRODH Expert Review Green;Victorian Clinical Genetics Services Autism Neurology and neurodevelopmental disorders Unknown Autism;HP:0000717 False 3 0;0;0 0.205 False ENSG00000100033 ENSG00000100033 HGNC:9453 PTCHD1 gene PTCHD1 Expert Review Green;Victorian Clinical Genetics Services Autism Neurology and neurodevelopmental disorders Unknown Autism;HP:0000717 False 3 0;0;0 0.205 False ENSG00000165186 ENSG00000165186 HGNC:26392 PTEN gene PTEN Expert Review Green;Victorian Clinical Genetics Services Autism Neurology and neurodevelopmental disorders Unknown Autism;HP:0000717 False 3 0;0;0 0.205 False ENSG00000171862 ENSG00000171862 HGNC:9588 PTPN11 gene PTPN11 Expert Review Green;Victorian Clinical Genetics Services Autism Neurology and neurodevelopmental disorders Unknown Autism;HP:0000717 False 3 0;0;0 0.205 False ENSG00000179295 ENSG00000179295 HGNC:9644 RAI1 gene RAI1 Expert Review Green;Victorian Clinical Genetics Services Autism Neurology and neurodevelopmental disorders Unknown Autism;HP:0000717 False 3 0;0;0 0.205 False ENSG00000108557 ENSG00000108557 HGNC:9834 RALGAPB gene RALGAPB Expert Review Green;Literature Autism Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Neurodevelopmental disorders, autism Autism;HP:0000717 PMID: 32853829 False 3 100;0;0 0.205 True ENSG00000170471 ENSG00000170471 HGNC:29221 RERE gene RERE Expert Review Green;Victorian Clinical Genetics Services Autism Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart, MIM# 616975 Autism;HP:0000717 27087320;23451234;30896913;30061196 False 3 100;0;0 0.205 True ENSG00000142599 ENSG00000142599 HGNC:9965 RIMS1 gene RIMS1 Expert Review Green;Victorian Clinical Genetics Services Autism Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Autism Autism;HP:0000717 25284784;25961944 False 3 100;0;0 0.205 False ENSG00000079841 ENSG00000079841 HGNC:17282 RIMS2 gene RIMS2 Expert Review Green;Literature Autism Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "nystagmus;retinal dysfunction;autism;night blindness;Cone-rod synaptic disorder syndrome, congenital nonprogressive , MIM#618970" Autism;HP:0000717 32470375 False 3 100;0;0 0.205 True ENSG00000176406 ENSG00000176406 HGNC:17283 RPS6KA3 gene RPS6KA3 Expert Review Green;Victorian Clinical Genetics Services Autism Neurology and neurodevelopmental disorders Unknown Autism;HP:0000717 False 3 0;0;0 0.205 False ENSG00000177189 ENSG00000177189 HGNC:10432 SATB2 gene SATB2 Expert Review Green;Victorian Clinical Genetics Services Autism Neurology and neurodevelopmental disorders Unknown Autism;HP:0000717 False 3 0;0;0 0.205 False ENSG00000119042 ENSG00000119042 HGNC:21637 SCN1A gene SCN1A Expert Review Green;Victorian Clinical Genetics Services Autism Neurology and neurodevelopmental disorders Unknown Autism;HP:0000717 False 3 0;0;0 0.205 False ENSG00000144285 ENSG00000144285 HGNC:10585 SCN2A gene SCN2A Expert Review Green;Victorian Clinical Genetics Services Autism Neurology and neurodevelopmental disorders Unknown Autism;HP:0000717 False 3 0;0;0 0.205 False ENSG00000136531 ENSG00000136531 HGNC:10588 SCN9A gene SCN9A Expert Review Green;Genetic Health Queensland;Victorian Clinical Genetics Services Autism Neurology and neurodevelopmental disorders Unknown Autism;HP:0000717 False 3 0;0;100 0.205 False ENSG00000169432 ENSG00000169432 HGNC:10597 SETD1B gene SETD1B Expert Review Green;Victorian Clinical Genetics Services Autism Neurology and neurodevelopmental disorders Unknown Autism;HP:0000717 False 3 0;0;0 0.205 False ENSG00000139718 ENSG00000139718 HGNC:29187 SETD5 gene SETD5 Expert Review Green;Victorian Clinical Genetics Services Autism Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Intellectual disability, autosomal dominant 23 (MIM # 615761) Autism;HP:0000717 29484850 False 3 0;0;0 0.205 True ENSG00000168137 ENSG00000168137 HGNC:25566 SGSH gene SGSH Expert Review Green;Victorian Clinical Genetics Services Autism Neurology and neurodevelopmental disorders Unknown Autism;HP:0000717 False 3 0;0;0 0.205 False ENSG00000181523 ENSG00000181523 HGNC:10818 SHANK1 gene SHANK1 Expert Review Green;Literature Autism Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Neurodevelopmental disorder, MONDO:0700092, SHANK1-related Autism;HP:0000717 25188300;22503632 False 3 100;0;0 0.205 True ENSG00000161681 ENSG00000161681 HGNC:15474 SHANK2 gene SHANK2 Expert Review Green;Victorian Clinical Genetics Services Autism Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted {Autism susceptibility 17}, MIM#613436;Autism spectrum disorder with or without intellectual disability Autism;HP:0000717 30072871;30911184;20473310 False 3 100;0;0 0.205 True ENSG00000162105 ENSG00000162105 HGNC:14295 SHANK3 gene SHANK3 Expert Review Green;Victorian Clinical Genetics Services Autism Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phelan-McDermid syndrome, MIM# 606232;MONDO:0011652 Autism;HP:0000717 30842224;16284256;17173049;20186804;22892527 False 3 100;0;0 0.205 True ENSG00000251322 ENSG00000251322 HGNC:14294 SIN3A gene SIN3A Expert Review Green;Victorian Clinical Genetics Services Autism Neurology and neurodevelopmental disorders Unknown Autism;HP:0000717 False 3 0;0;0 0.205 False ENSG00000169375 ENSG00000169375 HGNC:19353 SLC4A10 gene SLC4A10 Expert Review Green;Literature Autism Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with hypotonia and characteristic brain abnormalities, MIM# 620746 Autism;HP:0000717 PMID: 37459438 False 3 100;0;0 0.205 True ENSG00000144290 ENSG00000144290 HGNC:13811 SLC6A1 gene SLC6A1 Expert Review Green;Victorian Clinical Genetics Services Autism Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Myoclonic-atonic epilepsy, MIM#616421 Autism;HP:0000717 29315614 False 3 100;0;0 0.205 True ENSG00000157103 ENSG00000157103 HGNC:11042 SLC9A6 gene SLC9A6 Expert Review Green;Victorian Clinical Genetics Services Autism Neurology and neurodevelopmental disorders Unknown Autism;HP:0000717 False 3 0;0;0 0.205 False ENSG00000198689 ENSG00000198689 HGNC:11079 SMARCA2 gene SMARCA2 Expert Review Green;Victorian Clinical Genetics Services Autism Neurology and neurodevelopmental disorders Unknown Autism;HP:0000717 False 3 0;0;0 0.205 False ENSG00000080503 ENSG00000080503 HGNC:11098 SNX14 gene SNX14 Expert Review Green;Victorian Clinical Genetics Services Autism Neurology and neurodevelopmental disorders Unknown Autism;HP:0000717 False 3 0;0;0 0.205 False ENSG00000135317 ENSG00000135317 HGNC:14977 SOX5 gene SOX5 Expert Review Green;Victorian Clinical Genetics Services Autism Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Lamb-Shaffer syndrome, MIM#616803 Autism;HP:0000717 31578471 False 3 100;0;0 0.205 True ENSG00000134532 ENSG00000134532 HGNC:11201 SPAST gene SPAST Expert Review Green;Victorian Clinical Genetics Services Autism Neurology and neurodevelopmental disorders Unknown Autism;HP:0000717 False 3 0;0;0 0.205 False ENSG00000021574 ENSG00000021574 HGNC:11233 SPEN gene SPEN Expert Review Green;Literature Autism Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Radio-Tartaglia syndrome MIM#619312 Autism;HP:0000717 PMID: 33596411 False 3 100;0;0 0.205 True ENSG00000065526 ENSG00000065526 HGNC:17575 STAG1 gene STAG1 Expert Review Green;Victorian Clinical Genetics Services Autism Neurology and neurodevelopmental disorders Unknown Autism;HP:0000717 False 3 0;0;0 0.205 False ENSG00000118007 ENSG00000118007 HGNC:11354 STXBP1 gene STXBP1 Expert Review Green;Victorian Clinical Genetics Services Autism Neurology and neurodevelopmental disorders Unknown Autism;HP:0000717 False 3 0;0;0 0.205 False ENSG00000136854 ENSG00000136854 HGNC:11444 SYNGAP1 gene SYNGAP1 Expert Review Green;Victorian Clinical Genetics Services Autism Neurology and neurodevelopmental disorders Unknown Autism;HP:0000717 False 3 0;0;0 0.205 False ENSG00000197283 ENSG00000197283 HGNC:11497 TAF1 gene TAF1 Expert Review Green;Victorian Clinical Genetics Services Autism Neurology and neurodevelopmental disorders Unknown Autism;HP:0000717 False 3 0;0;0 0.205 False ENSG00000147133 ENSG00000147133 HGNC:11535 TBR1 gene TBR1 Expert Review Green;Victorian Clinical Genetics Services Autism Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Intellectual developmental disorder with autism and speech delay, MIM# 606053 Autism;HP:0000717 25232744;30250039 False 3 100;0;0 0.205 True ENSG00000136535 ENSG00000136535 HGNC:11590 TCF4 gene TCF4 Expert Review Green;Victorian Clinical Genetics Services Autism Neurology and neurodevelopmental disorders Unknown Autism;HP:0000717 False 3 0;0;0 0.205 False ENSG00000196628 ENSG00000196628 HGNC:11634 TNRC6B gene TNRC6B Expert Review Green;Victorian Clinical Genetics Services Autism Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Global developmental delay with speech and behavioural abnormalities, MIM# 619243 Autism;HP:0000717 32152250;28135719;25363768;27479843;28959963;25228304 False 3 100;0;0 0.205 True ENSG00000100354 ENSG00000100354 HGNC:29190 TRIP12 gene TRIP12 Expert Review Green;Victorian Clinical Genetics Services Autism Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Mental retardation autosomal dominant 49, Clark-Baraitser Syndrome, MIM#617752 Autism;HP:0000717 False 3 100;0;0 0.205 True ENSG00000153827 ENSG00000153827 HGNC:12306 TSC1 gene TSC1 Expert Review Green;Victorian Clinical Genetics Services Autism Neurology and neurodevelopmental disorders Unknown Autism;HP:0000717 False 3 0;0;0 0.205 False ENSG00000165699 ENSG00000165699 HGNC:12362 TSC2 gene TSC2 Expert Review Green;Victorian Clinical Genetics Services Autism Neurology and neurodevelopmental disorders Unknown Autism;HP:0000717 False 3 0;0;0 0.205 False ENSG00000103197 ENSG00000103197 HGNC:12363 UBE3A gene UBE3A Expert Review Green;Victorian Clinical Genetics Services Autism Neurology and neurodevelopmental disorders Unknown Autism;HP:0000717 False 3 0;0;0 0.205 False ENSG00000114062 ENSG00000114062 HGNC:12496 UBR5 gene UBR5 Expert Review Green;Literature Autism Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental disorder MONDO:0700092, UBR5-related Autism;HP:0000717 39721588 False 3 100;0;0 0.205 True ENSG00000104517 ENSG00000104517 HGNC:16806 UPF3B gene UPF3B Expert Review Green;Victorian Clinical Genetics Services Autism Neurology and neurodevelopmental disorders Unknown Autism;HP:0000717 False 3 0;0;0 0.205 False ENSG00000125351 ENSG00000125351 HGNC:20439 USP7 gene USP7 Expert Review Green;Literature;Victorian Clinical Genetics Services Autism Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hao-Fountain syndrome, MIM# 616863;MONDO:0014805;Intellectual disability;Autism Autism;HP:0000717 26365382;30679821 False 3 100;0;0 0.205 True ENSG00000187555 ENSG00000187555 HGNC:12630 VPS13B gene VPS13B Expert Review Green;Victorian Clinical Genetics Services Autism Neurology and neurodevelopmental disorders Unknown Autism;HP:0000717 False 3 0;0;0 0.205 False ENSG00000132549 ENSG00000132549 HGNC:2183 WAC gene WAC Expert Review Green;Victorian Clinical Genetics Services Autism Neurology and neurodevelopmental disorders Unknown Autism;HP:0000717 False 3 0;0;0 0.205 False ENSG00000095787 ENSG00000095787 HGNC:17327 WDFY3 gene WDFY3 Expert Review Green;Genetic Health Queensland;Victorian Clinical Genetics Services Autism Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Microcephaly 18, primary, autosomal dominant, MIM#617520 Autism;HP:0000717 31327001;27008544 False 3 100;0;0 0.205 True ENSG00000163625 ENSG00000163625 HGNC:20751 ZBTB20 gene ZBTB20 Expert Review Green;Victorian Clinical Genetics Services Autism Neurology and neurodevelopmental disorders Unknown Autism;HP:0000717 False 3 0;0;0 0.205 False ENSG00000181722 ENSG00000181722 HGNC:13503 ZSWIM6 gene ZSWIM6 Expert Review Green;Literature Autism Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted NEURODEVELOPMENTAL DISORDER WITH MOVEMENT ABNORMALITIES, ABNORMAL GAIT, AND AUTISTIC FEATURES;NEDMAGA Autism;HP:0000717 29198722 False 3 100;0;0 0.205 True ENSG00000130449 ENSG00000130449 HGNC:29316 CTNND2 gene CTNND2 Expert Review Amber;Victorian Clinical Genetics Services Autism Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Intellectual disability;Autism;Epilepsy Autism;HP:0000717 25839933;29127138;25807484 False 2 0;100;0 0.205 True ENSG00000169862 ENSG00000169862 HGNC:2516 KATNAL2 gene KATNAL2 Expert Review Amber;Victorian Clinical Genetics Services Autism Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Autism Autism;HP:0000717 22495311;21572417;22495309;22495306 False 2 0;100;0 0.205 True ENSG00000167216 ENSG00000167216 HGNC:25387 TAOK2 gene TAOK2 Expert Review Amber;Literature Autism Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Autism Autism;HP:0000717 29467497 False 2 0;100;0 0.205 True ENSG00000149930 ENSG00000149930 HGNC:16835