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 AKT2 gene AKT2 Expert Review;Expert Review Green Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders Growth disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Hypoinsulinemic hypoglycemia with hemihypertrophy, OMIM:240900;Hypoinsulinemic hypoglycemia and body hemihypertrophy, MONDO:0009416 28502730 False 3 0;0;0 1.121 False ENSG00000105221 ENSG00000105221 HGNC:392 ASXL2 gene ASXL2 Expert Review Green;Literature Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders Growth disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown "Shashi-Pena syndrome 617190" 27693232;28061364 False 3 0;0;100 1.121 False ENSG00000143970 ENSG00000143970 HGNC:23805 BRWD3 gene BRWD3 Expert Review Green;Other Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders Growth 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 93, 300659;macrocephaly;intellectual disability 28475857 False 3 100;0;0 1.121 True ENSG00000165288 ENSG00000165288 HGNC:17342 CDKN1C gene CDKN1C Eligibility statement exclusion criteria;Expert Review Green;Radboud University Medical Center, Nijmegen;UKGTN Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders Growth disorders MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed) Beckwith-Wiedemann syndrome, 130650;IMAGE syndrome, 614732 8841187;20803657;8841187;20301568;22585446;26077438;9341892;26077438;11414765;10424811 False 3 100;0;0 1.121 True Other - please provide details in the comments ENSG00000129757 ENSG00000129757 HGNC:1786 CHD8 gene CHD8 Expert Review Green;Other Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders Growth disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown {Autism, susceptibility to, 18}, 615032;Overgrowth with Intellectual disability;Human overgrowth syndrome type 28475857 False 3 100;0;0 1.121 False ENSG00000100888 ENSG00000100888 HGNC:20153 DIS3L2 gene DIS3L2 Expert list;Expert Review Green Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders Growth disorders BIALLELIC, autosomal or pseudoautosomal Perlman syndrome, 267000 22306653;28328139;29950491 False 3 100;0;0 1.121 False ENSG00000144535 ENSG00000144535 HGNC:28648 DNMT3A gene DNMT3A Expert Review Green;Research Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders Growth disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Tatton-Brown-Rahman syndrome, 615879;OVERGROWTH SYNDROME WITH INTELLECTUAL DISABILITY;DNMT3A overgrowth syndrome 24614070;26866722;27701732;20301652 False 3 100;0;0 1.121 False ENSG00000119772 ENSG00000119772 HGNC:2978 EED gene EED Expert Review Green;Other Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders Growth disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cohen-Gibson syndrome, 617561;Human overgrowth syndrome type;Overgrowth with Intellectual disability 25787343;27193220;27868325;28229514;28475857 False 3 100;0;0 1.121 False ENSG00000074266 ENSG00000074266 HGNC:3188 EZH2 gene EZH2 Eligibility statement exclusion criteria;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders Growth disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Weaver syndrome;Weaver syndrome 2; Weaver syndrome, 277590;Weaver Syndrome 23592277;22177091;23865096;24214728;22190405 False 3 100;0;0 1.121 False ENSG00000106462 ENSG00000106462 HGNC:3527 GPC3 gene GPC3 Eligibility statement exclusion criteria;Emory Genetics Laboratory;Expert Review Green;Radboud University Medical Center, Nijmegen;UKGTN Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders Growth 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 type 1;Simpson-Golabi-Behmel syndrome, type 1, 312870 8589713 False 3 100;0;0 1.121 True ENSG00000147257 ENSG00000147257 HGNC:4451 HIST1H1E gene HIST1H1E Expert Review Green;Research Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders Growth disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown OVERGROWTH SYNDROME WITH INTELLECTUAL DISABILITY;Rahman syndrome, 617537 28475857 False 3 0;100;0 1.121 False ENSG00000168298 ENSG00000168298 HGNC:4718 MTOR gene MTOR Expert list;Expert Review Green Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders Growth disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Overgrowth with Intellectual disability;Human overgrowth syndrome type 28475857;27753196 False 3 100;0;0 1.121 False ENSG00000198793 ENSG00000198793 HGNC:3942 NFIB gene NFIB Expert list;Expert Review Green Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders Growth disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Macrocephaly, acquired, with impaired intellectual development, 618286 30388402 False 3 50;50;0 1.121 False ENSG00000147862 ENSG00000147862 HGNC:7785 NFIX gene NFIX Expert Review Green;Radboud University Medical Center, Nijmegen Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders Growth disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Marshall-Smith syndrome, 602535; Sotos syndrome 2, 614753 25118028 False 3 100;0;0 1.121 True ENSG00000008441 ENSG00000008441 HGNC:7788 NSD1 gene NSD1 Eligibility statement exclusion criteria;Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders Growth disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Sotos syndrome 1, 117550; Leukemia, acute myeloid, 601626 (1); Beckwith-Wiedemann syndrome, 130650; Sotos Syndrome 23592277;15942875 False 3 100;0;0 1.121 True ENSG00000165671 ENSG00000165671 HGNC:14234 OFD1 gene OFD1 Expert Review Green;Expert Review Green;Radboud University Medical Center, Nijmegen Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders Growth disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Oral-facial-digital syndrome 1, 311200; Simpson-Golabi-Behmel syndrome, type 2, 300209; Joubert syndrome 10, 300804 23036093 False 3 0;0;100 1.121 False ENSG00000046651 ENSG00000046651 HGNC:2567 PDGFRB gene PDGFRB Expert list;Expert Review Green Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders Growth disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Kosaki overgrowth syndrome, OMIM:616592 25454926;32291752;30941910;29226947 False 3 100;0;0 1.121 False ENSG00000113721 ENSG00000113721 HGNC:8804 PIK3CA gene PIK3CA Expert Review Green;Other Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders Growth disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Human overgrowth syndrome type;Overgrowth with Intellectual disability;CLOVES: CONGENITAL LIPOMATOUS OVERGROWTH, VASCULAR MALFORMATIONS, AND EPIDERMAL NEVI 28475857;25722288 False 3 100;0;0 1.121 False ENSG00000121879 ENSG00000121879 HGNC:8975 PTEN gene PTEN Expert Review Green;Other Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders Growth disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Overgrowth with Intellectual disability;Human overgrowth syndrome type 28475857 False 3 100;0;0 1.121 False ENSG00000171862 ENSG00000171862 HGNC:9588 RNF125 gene RNF125 Expert list;Expert Review Green Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders Growth disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Tenorio syndrome, OMIM:616260 25196541 False 3 100;0;0 1.121 False ENSG00000101695 ENSG00000101695 HGNC:21150 SETD2 gene SETD2 Expert list;Expert Review Green Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders Growth disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Luscan-Lumish syndrome, OMIM:616831 29681085;24852293 False 3 100;0;0 1.121 False ENSG00000181555 ENSG00000181555 HGNC:18420 SUZ12 gene SUZ12 Expert list;Expert Review Green Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders Growth disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Imagawa-Matsumoto syndrome 618786 28229514;30019515;31736240;15385962;19535498;31724824 False 3 100;0;0 1.121 False ENSG00000178691 ENSG00000178691 HGNC:17101 ZBTB7A gene ZBTB7A Expert Review Green;Literature Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders Growth disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Macrocephaly, neurodevelopmental delay, lymphoid hyperplasia, and persistent fetal hemoglobin, OMIM:619769 34515416;31645653 False 3 100;0;0 1.121 False ENSG00000178951 ENSG00000178951 HGNC:18078 AKT3 gene AKT3 Expert list;Expert Review Amber Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders Growth disorders Other Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2, OMIM:615937 28475857;25722288 False 2 0;100;0 1.121 False ENSG00000117020 ENSG00000117020 HGNC:393 H19 gene H19 Emory Genetics Laboratory;Expert Review Amber;UKGTN Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders Growth disorders MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed) Beckwith-Wiedemann syndrome (BWS) 18836444 False 2 100;0;0 1.121 True Other - please provide details in the comments ENSG00000130600 ENSG00000130600 HGNC:4713 KCNQ1OT1 gene KCNQ1OT1 Emory Genetics Laboratory;Expert Review Amber;UKGTN Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders Growth disorders MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed) Beckwith-Wiedemann Syndrome, 130650 12949703 False 2 100;0;0 1.121 False Other - please provide details in the comments ENSG00000269821 ENSG00000269821 HGNC:6295 ISCA-37425-Loss region Expert Review Green;ClinGen Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders Growth disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown macrocephaly, overgrowth and advanced bone age;colpocephaly;Sotos syndrome;macrocephaly;117550;rapid growth, acromegalic features, and a nonprogressive cerebral disorder with mental retardation. High-arched palate and prominent jaw False 3 0;0;0 1.121 False 5 176301976 177620792 3 60 cnv_loss 5q35 recurrent (Sotos syndrome) region (includes NSD1) Loss