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 MLH1 gene MLH1 Eligibility statement prior genetic testing;Expert Review Green;Radboud University Medical Center, Nijmegen;UKGTN Genodermatoses with malignancies Skin Tumour syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Colorectal cancer, hereditary nonpolyposis, type 2, 609310; Mismatch repair cancer syndrome, 276300; Muir-Torre syndrome, 158320;Muir-Torre Syndrome False 3 100;0;0 1.11 True ENSG00000076242 ENSG00000076242 HGNC:7127 MSH2 gene MSH2 Eligibility statement prior genetic testing;Expert Review Green;Radboud University Medical Center, Nijmegen;UKGTN Genodermatoses with malignancies Skin Tumour syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Colorectal cancer, hereditary nonpolyposis, type 1, 120435; Muir-Torre syndrome, 158320; Mismatch repair cancer syndrome, 276300;Muir-Torre Syndrome False 3 100;0;0 1.11 True ENSG00000095002 ENSG00000095002 HGNC:7325 MSH6 gene MSH6 Eligibility statement prior genetic testing;Expert Review Green Genodermatoses with malignancies Skin Tumour syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Muir-Torre syndrome False 3 0;0;0 1.11 True ENSG00000116062 ENSG00000116062 HGNC:7329 PTCH1 gene PTCH1 Eligibility statement prior genetic testing;Expert;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Genodermatoses with malignancies Skin Tumour syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Basal cell nevus syndrome 1, OMIM:109400;Basal cell carcinoma, somatic, OMIM:605462;Gorlin syndrome False 3 100;0;0 1.11 True ENSG00000185920 ENSG00000185920 HGNC:9585 PTEN gene PTEN Eligibility statement prior genetic testing;Emory Genetics Laboratory;Expert list;Expert Review Green;Radboud University Medical Center, Nijmegen;UKGTN Genodermatoses with malignancies Skin Tumour syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cowden syndrome 1, 158350; Lhermitte-Duclos syndrome, 158350; Bannayan-Riley-Ruvalcaba syndrome, 153480; {Meningioma}, 607174; {Glioma susceptibility 2}, 613028; Macrocephaly/autism syndrome, 605309; PTEN hamartoma tumor syndrome; VATER association with macrocephaly and ventriculomegaly, 276950; {Prostate cancer, somatic}, 176807; Thyroid carcinoma, follicular, somatic, 188470; Malignant melanoma, somatic, 155600; Endometrial carcinoma, somatic, 608089; Squamous cell carcinoma, head and neck, somatic, 275355;Cowden Syndrome;Cowden Disease False 3 100;0;0 1.11 True ENSG00000171862 ENSG00000171862 HGNC:9588 SUFU gene SUFU Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Genodermatoses with malignancies Skin Tumour syndromes MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Basal cell nevus syndrome, OMIM:109400;{Medulloblastoma}, OMIM:155255;{Meningioma, familial, susceptibility to}, OMIM:607174 PMID: 25403219 False 3 0;0;0 1.11 True ENSG00000107882 ENSG00000107882 HGNC:16466 PTCH2 gene PTCH2 Expert Review Amber;Radboud University Medical Center, Nijmegen Genodermatoses with malignancies Skin Tumour syndromes Medulloblastoma;Basal cell carcinoma, somatic;(originally on Gorlin syndrome gene panel);Basal cell nevus syndrome 109400 False 2 0;67;33 1.11 True ENSG00000117425 ENSG00000117425 HGNC:9586 ACTRT1 gene ACTRT1 Expert list;Literature Genodermatoses with malignancies Skin Tumour syndromes MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Basal cell carcinoma;Bazex Dupr Christol syndrome 28869610;30653245 False 1 0;0;100 1.11 False ENSG00000123165 ENSG00000123165 HGNC:24027 AKT1 gene AKT1 Expert Review Red;Radboud University Medical Center, Nijmegen Genodermatoses with malignancies Skin Tumour syndromes IGH Breast cancer, somatic, 114480; Colorectal cancer, somatic, 114500; Ovarian cancer, somatic, 167000; {Schizophrenia, susceptibility to}, 181500 (2); Proteus syndrome, somatic, 176920; Cowden syndrome 6, 615109 PMID: 23246288 False 1 0;0;0 1.11 True ENSG00000142208 ENSG00000142208 HGNC:391 KLLN gene KLLN Expert Review Red;Radboud University Medical Center, Nijmegen Genodermatoses with malignancies Skin Tumour syndromes Cowden syndrome 4, 615107 False 1 0;0;0 1.11 True ENSG00000227268 ENSG00000227268 HGNC:37212 PIK3CA gene PIK3CA Expert Review Genodermatoses with malignancies Skin Tumour syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted One publication showing mutations in Cowden. Await confirmation. PMID: 23246288 False 1 0;0;0 1.11 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000121879 ENSG00000121879 HGNC:8975 SDHB gene SDHB Radboud University Medical Center, Nijmegen Genodermatoses with malignancies Skin Tumour syndromes Gastrointestinal stromal tumor, OMIM:606764;Paraganglioma and gastric stromal sarcoma, OMIM:606864 False 1 0;0;0 1.11 False ENSG00000117118 ENSG00000117118 HGNC:10681 SDHD gene SDHD Radboud University Medical Center, Nijmegen Genodermatoses with malignancies Skin Tumour syndromes Paragangliomas 1, with or without deafness, 168000; Pheochromocytoma, 171300; Carcinoid tumors, intestinal, 114900; Merkel cell carcinoma, somatic; Paraganglioma and gastric stromal sarcoma, 606864; Cowden syndrome 3, 615106 False 1 0;0;0 1.11 False ENSG00000204370 ENSG00000204370 HGNC:10683