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 BRPF1 gene BRPF1 Expert list;Expert Review;Expert Review Green Speech apraxia Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Intellectual developmental disorder with dysmorphic facies and ptosis, MIM# 617333 36117209;27939640;38346666 False 3 100;0;0 1.40 True ENSG00000156983 ENSG00000156983 HGNC:14255 CACNA1A gene CACNA1A Expert List;Expert Review Green;Literature Speech apraxia Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted CACNA1A-related complex neurodevelopmental disorder (MONDO:0100254) (PMID: 41530369);(PMID: 39931922) False 3 100;0;0 1.40 True ENSG00000141837 ENSG00000141837 HGNC:1388 CAMTA1 gene CAMTA1 Expert List;Expert Review Green;Literature Speech apraxia Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cerebellar dysfunction with variable cognitive and behavioural abnormalities (MIM#614756) PMID: 41530369;PMID: 39931922;PMID: 33131045 False 3 100;0;0 1.40 True ENSG00000171735 ENSG00000171735 HGNC:18806 CDK13 gene CDK13 Expert list;Expert Review;Expert Review Green Speech apraxia Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder, MIM# 617360 32345733;36599938 False 3 100;0;0 1.40 True ENSG00000065883 ENSG00000065883 HGNC:1733 CHD3 gene CHD3 Expert list;Expert Review;Expert Review Green Speech apraxia Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Snijders Blok-Campeau syndrome MIM#618205 PMID: 30397230;38366112;35346573 False 3 100;0;0 1.40 True ENSG00000170004 ENSG00000170004 HGNC:1918 DDX3X gene DDX3X Expert list;Expert Review;Expert Review Green Speech apraxia 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, Snijders Blok type, MIM# 300958 32345733;36117209;37904618 False 3 100;0;0 1.40 True ENSG00000215301 ENSG00000215301 HGNC:2745 EBF3 gene EBF3 Expert list;Expert Review;Expert Review Green Speech apraxia Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hypotonia, ataxia, and delayed development syndrome, MIM# 617330 32345733;28017372 False 3 100;0;0 1.40 True ENSG00000108001 ENSG00000108001 HGNC:19087 EHMT1 gene EHMT1 Expert List;Expert Review Green Speech apraxia Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Kleefstra syndrome 1 (MIM#610253) PMID: 41530369;PMID: 38290825 False 3 100;0;0 1.40 True ENSG00000181090 ENSG00000181090 HGNC:24650 FOXP1 gene FOXP1 Expert List;Expert Review Green;Literature Speech apraxia Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted intellectual disability-severe speech delay-mild dysmorphism syndrome (MONDO: 0013352) (PMID: 41530369;34109629;39931922) False 3 100;0;0 1.40 True ENSG00000114861 ENSG00000114861 HGNC:3823 FOXP2 gene FOXP2 Expert list;Expert Review;Expert Review Green Speech apraxia Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Speech-language disorder-1, MIM# 602081 PMID: 11586359;36328423;38366112 False 3 100;0;0 1.40 True ENSG00000128573 ENSG00000128573 HGNC:13875 GNAI1 gene GNAI1 Expert List;Expert Review Green;Literature Speech apraxia Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted neurodevelopmental disorder with hypotonia, impaired speech, and behavioural abnormalities (MIM#619854) PMID: 41530369;39931922;33473207 False 3 100;0;0 1.40 True ENSG00000127955 ENSG00000127955 HGNC:4384 KAT6A gene KAT6A Expert list;Expert Review;Expert Review Green Speech apraxia Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Arboleda-Tham syndrome, MIM# 616268 35892268;38366112;30245513 False 3 100;0;0 1.40 True ENSG00000083168 ENSG00000083168 HGNC:13013 KDM5C gene KDM5C Expert list;Expert Review;Expert Review Green Speech apraxia 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 36117209;36434256 False 3 50;0;50 1.40 True ENSG00000126012 ENSG00000126012 HGNC:11114 PPP2R5D gene PPP2R5D Expert List;Expert Review Green;Literature Speech apraxia Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Intellectual developmental disorder 35 (MIM#616355) 41530369;39931922;32074998 False 3 100;0;0 1.40 True ENSG00000112640 ENSG00000112640 HGNC:9312 SCN8A gene SCN8A Expert List;Expert Review Green;Literature Speech apraxia Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cognitive impairment with or without cerebellar ataxia (MIM#614306) 41530369;39931922 False 3 100;0;0 1.40 True ENSG00000196876 ENSG00000196876 HGNC:10596 SET gene SET Expert List;Expert Review Green;Literature Speech apraxia Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Intellectual developmental disorder, 58 (MIM#618106). 41530369;39931922 False 3 100;0;0 1.40 True ENSG00000119335 ENSG00000119335 HGNC:10760 SETBP1 gene SETBP1 Expert list;Expert Review;Expert Review Green Speech apraxia Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Intellectual developmental disorder, autosomal dominant 29, MIM# 616078 29463886;33907317 False 3 100;0;0 1.40 True ENSG00000152217 ENSG00000152217 HGNC:15573 SETD1A gene SETD1A Expert list;Expert Review;Expert Review Green Speech apraxia Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental disorder with speech impairment and dysmorphic facies, MIM# 619056 29463886;32346159 False 3 100;0;0 1.40 True ENSG00000099381 ENSG00000099381 HGNC:29010 SETD5 gene SETD5 Expert List;Expert Review Green;Literature Speech apraxia Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Intellectual developmental disorder, 23 (MIM#615761) 41530369;39931922 False 3 100;0;0 1.40 True ENSG00000168137 ENSG00000168137 HGNC:25566 SLC6A1 gene SLC6A1 Expert List;Expert Review Green;Literature Speech apraxia Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Myoclonic-atonic epilepsy (MIM#616421 41530369;39931922 False 3 100;0;0 1.40 True ENSG00000157103 ENSG00000157103 HGNC:11042 SMARCA2 gene SMARCA2 Expert List;Expert Review Green;Literature Speech apraxia Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Nicolaides-Baraitser syndrome (MIM#601358);Blepharophimosis-impaired intellectual development syndrome (MIM#619293) 41530369;39931922;32694869 False 3 100;0;0 1.40 True ENSG00000080503 ENSG00000080503 HGNC:11098