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 ABCC9 gene ABCC9 Expert Review Green;Victorian Clinical Genetics Services Overgrowth Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hypertrichotic osteochondrodysplasia, MIM# 239850;Cantu syndrome Overgrowth;HP:0001548; Tall stature;HP:0000098; Increased body weight;HP:0004324 22610116;22608503 False 3 100;0;0 1.14 True ENSG00000069431 ENSG00000069431 HGNC:60 AKT2 gene AKT2 Expert list;Expert Review Green Overgrowth Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Hypoinsulinemic hypoglycemia with hemihypertrophy, MIM# 240900" Overgrowth;HP:0001548; Tall stature;HP:0000098; Increased body weight;HP:0004324 21979934 False 3 100;0;0 1.14 True Other ENSG00000105221 ENSG00000105221 HGNC:392 BRWD3 gene BRWD3 Expert Review Green;Victorian Clinical Genetics Services Overgrowth Dysmorphic and congenital abnormality syndromes 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, OMIM # 300659 Overgrowth;HP:0001548; Tall stature;HP:0000098; Increased body weight;HP:0004324 17668385;30628072;24462886 False 3 50;50;0 1.14 True ENSG00000165288 ENSG00000165288 HGNC:17342 CDKN1C gene CDKN1C Expert Review Green;Victorian Clinical Genetics Services Overgrowth Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed) Beckwith-Wiedemann syndrome, MIM# 130650 Overgrowth;HP:0001548; Tall stature;HP:0000098; Increased body weight;HP:0004324 False 3 100;0;0 1.14 True ENSG00000129757 ENSG00000129757 HGNC:1786 CHD8 gene CHD8 Expert Review Green;Victorian Clinical Genetics Services Overgrowth Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted {Autism, susceptibility to, 18} 615032;Neurodevelopmental disorder, MONDO:0700092, CHD8-associated Overgrowth;HP:0001548; Tall stature;HP:0000098; Increased body weight;HP:0004324 31980904 False 3 100;0;0 1.14 True ENSG00000100888 ENSG00000100888 HGNC:20153 DIS3L2 gene DIS3L2 Expert Review Green;Victorian Clinical Genetics Services Overgrowth Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Perlman syndrome, MIM# 267000 Overgrowth;HP:0001548; Tall stature;HP:0000098; Increased body weight;HP:0004324 22306653;28328139;29950491 False 3 100;0;0 1.14 True ENSG00000144535 ENSG00000144535 HGNC:28648 DNMT3A gene DNMT3A Expert Review Green;Victorian Clinical Genetics Services Overgrowth Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Tatton-Brown-Rahman syndrome, OMIM# 615879 Overgrowth;HP:0001548; Tall stature;HP:0000098; Increased body weight;HP:0004324 24614070 False 3 100;0;0 1.14 True ENSG00000119772 ENSG00000119772 HGNC:2978 EED gene EED Expert Review Green;Victorian Clinical Genetics Services Overgrowth Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cohen-Gibson syndrome, MIM# 617561 Overgrowth;HP:0001548; Tall stature;HP:0000098; Increased body weight;HP:0004324 25787343;27193220;27868325;28229514 False 3 100;0;0 1.14 True ENSG00000074266 ENSG00000074266 HGNC:3188 EZH2 gene EZH2 Expert Review Green;Victorian Clinical Genetics Services Overgrowth Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Weaver syndrome MIM#277590 Overgrowth;HP:0001548; Tall stature;HP:0000098; Increased body weight;HP:0004324 29244146;23865096 False 3 100;0;0 1.14 True ENSG00000106462 ENSG00000106462 HGNC:3527 GPC3 gene GPC3 Expert Review Green;Victorian Clinical Genetics Services Overgrowth Dysmorphic and congenital abnormality syndromes X-LINKED: hemizygous mutation in males, biallelic mutations in females Simpson-Golabi-Behmel syndrome, type 1, MIM# 312870 Overgrowth;HP:0001548; Tall stature;HP:0000098; Increased body weight;HP:0004324 False 3 100;0;0 1.14 True ENSG00000147257 ENSG00000147257 HGNC:4451 HIST1H1E gene HIST1H1E Expert Review Green;Victorian Clinical Genetics Services Overgrowth Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Rahman syndrome, MIM# 617537 Overgrowth;HP:0001548; Tall stature;HP:0000098; Increased body weight;HP:0004324 28475857;33270410;31910894;31400068 False 3 100;0;0 1.14 True ENSG00000168298 ENSG00000168298 HGNC:4718 MTOR gene MTOR Expert Review Green;Victorian Clinical Genetics Services Overgrowth Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Smith-Kingsmore syndrome, MIM# 616638 Overgrowth;HP:0001548; Tall stature;HP:0000098; Increased body weight;HP:0004324 27830187 False 3 100;0;0 1.14 True ENSG00000198793 ENSG00000198793 HGNC:3942 NFIX gene NFIX Expert Review Green;Victorian Clinical Genetics Services Overgrowth Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Sotos syndrome 2, MIM# 614753;Malan syndrome Overgrowth;HP:0001548; Tall stature;HP:0000098; Increased body weight;HP:0004324 33034087;29897170;30548146;25118028 False 3 100;0;0 1.14 True ENSG00000008441 ENSG00000008441 HGNC:7788 NSD1 gene NSD1 Expert Review Green;Victorian Clinical Genetics Services Overgrowth Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Sotos syndrome 1, MIM# 117550 Overgrowth;HP:0001548; Tall stature;HP:0000098; Increased body weight;HP:0004324 False 3 100;0;0 1.14 True ENSG00000165671 ENSG00000165671 HGNC:14234 PDGFRB gene PDGFRB Expert Review Green;Victorian Clinical Genetics Services Overgrowth Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Kosaki overgrowth syndrome, MIM# 616592 Overgrowth;HP:0001548; Tall stature;HP:0000098; Increased body weight;HP:0004324 25454926;32291752;30941910;29226947 False 3 100;0;0 1.14 True ENSG00000113721 ENSG00000113721 HGNC:8804 PIK3CA gene PIK3CA Expert Review Green;Victorian Clinical Genetics Services Overgrowth Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cowden syndrome 5, MIM# 615108 Overgrowth;HP:0001548; Tall stature;HP:0000098; Increased body weight;HP:0004324 23246288;32362992;31929958 False 3 100;0;0 1.14 True ENSG00000121879 ENSG00000121879 HGNC:8975 PPP2R5D gene PPP2R5D Expert Review Green;Victorian Clinical Genetics Services Overgrowth Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Houge-Janssens syndrome 1, MIM#616355 Overgrowth;HP:0001548; Tall stature;HP:0000098; Increased body weight;HP:0004324 26168268;25972378;25533962 False 3 50;0;50 1.14 True ENSG00000112640 ENSG00000112640 HGNC:9312 PTEN gene PTEN Expert Review Green;Victorian Clinical Genetics Services Overgrowth Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cowden syndrome 1, MIM# 158350;Macrocephaly/autism syndrome, MIM# 605309;PTEN hamartoma tumor syndrome MONDO:0017623 Overgrowth;HP:0001548; Tall stature;HP:0000098; Increased body weight;HP:0004324 31433956;31609537 False 3 100;0;0 1.14 True ENSG00000171862 ENSG00000171862 HGNC:9588 RNF125 gene RNF125 Expert Review Green;Victorian Clinical Genetics Services Overgrowth Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Tenorio syndrome, MIM# 616260 Overgrowth;HP:0001548; Tall stature;HP:0000098; Increased body weight;HP:0004324 25196541 False 3 100;0;0 1.14 True ENSG00000101695 ENSG00000101695 HGNC:21150 SETD2 gene SETD2 Expert Review Green;Victorian Clinical Genetics Services Overgrowth Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Luscan-Lumish syndrome, MIM#616831 Overgrowth;HP:0001548; Tall stature;HP:0000098; Increased body weight;HP:0004324 29681085 False 3 100;0;0 1.14 True ENSG00000181555 ENSG00000181555 HGNC:18420 SUZ12 gene SUZ12 Expert Review Green;Victorian Clinical Genetics Services Overgrowth Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Imagawa-Matsumoto syndrome, MIM# 618786 Overgrowth;HP:0001548; Tall stature;HP:0000098; Increased body weight;HP:0004324 31736240;28229514 False 3 100;0;0 1.14 True ENSG00000178691 ENSG00000178691 HGNC:17101