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 AKT1 gene AKT1 Emory Genetics Laboratory;Expert Review;Expert Review Green;Radboud University Medical Center, Nijmegen;UKGTN Segmental overgrowth disorders - Deep sequencing Dermatology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Proteus syndrome, 176920;Proteus syndrome, somatic,176920;Macrocephaly and Overgrowth Syndromes;Proteus syndrome; Segmental Overgrowth Syndrome 33030203 False 3 100;0;0 4.5 False ENSG00000142208 ENSG00000142208 HGNC:391 AKT2 gene AKT2 Expert Review Green;NHS GMS;Other;Radboud University Medical Center, Nijmegen Segmental overgrowth disorders - Deep sequencing Dermatology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Hypoinsulinemic hypoglycemia with hemihypertrophy, OMIM:240900;Hypoinsulinemic hypoglycemia and body hemihypertrophy, MONDO:0009416 21979934;24285683;28502730;34673243 False 3 100;0;0 4.5 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000105221 ENSG00000105221 HGNC:392 AKT3 gene AKT3 Emory Genetics Laboratory;Expert Review;Expert Review Green;Radboud University Medical Center, Nijmegen;UKGTN Segmental overgrowth disorders - Deep sequencing Dermatology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2, OMIM:615937;Macrocephaly and Overgrowth Syndromes False 3 100;0;0 4.5 False ENSG00000117020 ENSG00000117020 HGNC:393 ARAF gene ARAF Expert list;Expert Review Green;NHS GMS Segmental overgrowth disorders - Deep sequencing Dermatology X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) central conducting lymphatic anomaly 31263281 False 3 100;0;0 4.5 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000078061 ENSG00000078061 HGNC:646 CCND2 gene CCND2 Expert Review;Expert Review Green;Radboud University Medical Center, Nijmegen;UKGTN Segmental overgrowth disorders - Deep sequencing Dermatology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3, 615938; MPPH3;Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus syndrome 3 False 3 100;0;0 4.5 False ENSG00000118971 ENSG00000118971 HGNC:1583 CDKN1C gene CDKN1C Emory Genetics Laboratory;Expert Review;Expert Review Green;Radboud University Medical Center, Nijmegen;UKGTN Segmental overgrowth disorders - Deep sequencing Dermatology MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed) Beckwith-Wiedemann syndrome, 130650; BWS;Macrocephaly and Overgrowth Syndromes;Beckwith-Wiedemann Syndrome; Hemiohyperplasia, Isolated, 235000; IH False 3 100;0;0 4.5 False ENSG00000129757 ENSG00000129757 HGNC:1786 GJA4 gene GJA4 Expert list;Expert Review Green;NHS GMS Segmental overgrowth disorders - Deep sequencing Dermatology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cutaneous and hepatic vascular lesions (no OMIM phenotype) 33912852;35642047;35902510;36209871;37072338 False 3 100;0;0 4.5 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000187513 ENSG00000187513 HGNC:4278 PIK3CA gene PIK3CA Emory Genetics Laboratory;Expert Review;Expert Review Green;Other;UKGTN Segmental overgrowth disorders - Deep sequencing Dermatology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Megalencephaly-capillary malformation-polymicrogyria syndrome, 602501; MCAP; congenital lipomatous overgrowth, vascular malformations, and epidermal nevi, 612918; CLOVE syndrome;Macrocephaly and Overgrowth Syndromes;Megalencephaly-Capillary malformation syndrome; Congenital Lipomatous Overgrowth Vascular Malformations, Epidermal Nevi and Scoliosis/Skeletal/Spinal anomalies syndrome; CLOVES syndrome; Congenital Lipomatous Overgrowth, Vascular Malformations, and Epidermal Nevi; Megalencephaly-Capillary Malformation- Polymicrogyria Syndrome; CLOVES;Megalencephaly-capillary malformation-polymicrogyria syndrome, somatic; macrocephaly-capillary malformation (MCM) syndrome False 3 100;0;0 4.5 False ENSG00000121879 ENSG00000121879 HGNC:8975 PIK3R1 gene PIK3R1 Expert list;Expert Review Green;NHS GMS Segmental overgrowth disorders - Deep sequencing Dermatology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Vascular malformation and overgrowth 29174369;34040190;35964931 False 3 100;0;0 4.5 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000145675 ENSG00000145675 HGNC:8979 PIK3R2 gene PIK3R2 Emory Genetics Laboratory;Expert Review;Expert Review Green;Radboud University Medical Center, Nijmegen;UKGTN Segmental overgrowth disorders - Deep sequencing Dermatology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1, OMIM:603387 False 3 100;0;0 4.5 False ENSG00000105647 ENSG00000105647 HGNC:8980 PTEN gene PTEN Emory Genetics Laboratory;Expert Review;Expert Review Green;Other;Radboud University Medical Center, Nijmegen;UKGTN Segmental overgrowth disorders - Deep sequencing Dermatology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Bannayan-Riley-Ruvalcaba syndrome, 153480; BRRS;Bannayan-Riley-Ruvalcaba syndrome,153480;PHTS; PTEN Hamartoma Tumor Syndrome; Macrocephaly and Overgrowth Syndromes;megalencephaly; macrocephaly; Bannayan Riley Ruvalcalba Syndrome; Bannayan-Riley-Ruvalcaba Syndrome; Cowden syndrome;Proteus-like syndrome; hemihypertrophy False 3 100;0;0 4.5 False ENSG00000171862 ENSG00000171862 HGNC:9588 RASA1 gene RASA1 Expert Review;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Segmental overgrowth disorders - Deep sequencing Dermatology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Parkes Weber syndrome, 608355; PKWS;Parkes Weber Syndrome False 3 100;0;0 4.5 False ENSG00000145715 ENSG00000145715 HGNC:9871 SUZ12 gene SUZ12 Expert Review Green;Literature Segmental overgrowth disorders - Deep sequencing Dermatology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Imagawa-Matsumoto syndrome 618786 28229514;30019515;31736240;15385962;19535498;31724824 False 3 100;0;0 4.5 False ENSG00000178691 ENSG00000178691 HGNC:17101 NLRP2 gene NLRP2 Expert Review Amber;Literature Segmental overgrowth disorders - Deep sequencing Dermatology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Oocyte/zygote/embryo maturation arrest 18, OMIM:620332;oocyte/zygote/embryo maturation arrest 18, MONDO:0957230;Beckwith-Wiedemann syndrome due to imprinting defect of 11p15, MONDO:0016475 26323243;29574422;19300480;30877238;33090377 False 2 0;100;0 4.5 False Other ENSG00000022556 ENSG00000022556 HGNC:22948 HRAS gene HRAS Other Segmental overgrowth disorders - Deep sequencing Dermatology Hemimegalencephaly; Schimmelpenning-Feuerstein-Mims syndrome, somatic mosaic, 163200 False 1 0;0;0 4.5 False ENSG00000174775 ENSG00000174775 HGNC:5173 KRAS gene KRAS Other Segmental overgrowth disorders - Deep sequencing Dermatology Hemimegalencephaly; Schimmelpenning-Feuerstein-Mims syndrome, somatic mosaic, 163200 False 1 0;0;0 4.5 False ENSG00000133703 ENSG00000133703 HGNC:6407 MTOR gene MTOR UKGTN Segmental overgrowth disorders - Deep sequencing Dermatology Segmental Overgrowth Syndrome; Hemimegalencephaly; HME 22729223 False 1 0;0;0 4.5 False ENSG00000198793 ENSG00000198793 HGNC:3942 NRAS gene NRAS Other Segmental overgrowth disorders - Deep sequencing Dermatology Hemimegalencephaly; Schimmelpenning-Feuerstein-Mims syndrome, somatic mosaic, 163200 False 1 0;0;0 4.5 False ENSG00000213281 ENSG00000213281 HGNC:7989 PADI6 gene PADI6 Expert Review Red;Literature;NHS GMS Segmental overgrowth disorders - Deep sequencing Dermatology MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed) Preimplantation embryonic lethality 2 OMIM:617234;Beckwith-Wiedemann syndrome 32928291;33221824 False 1 0;0;100 4.5 False ENSG00000256049 ENSG00000276747 HGNC:20449 TBC1D7 gene TBC1D7 Expert Review;Expert Review Red Segmental overgrowth disorders - Deep sequencing Dermatology BIALLELIC, autosomal or pseudoautosomal Macrocephaly/megalencephaly syndrome, autosomal recessive, OMIM:248000 24515783;23687350 False 1 100;0;0 4.5 False ENSG00000145979 ENSG00000145979 HGNC:21066