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 CYLD gene CYLD Expert Review Green;London North GLH;NHS GMS Multiple monogenic benign skin tumours MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cylindromatosis, familial, OMIM:132700, Trichoepithelioma, multiple familial, 1, OMIM:601606 False 3 100;0;0 2.4 False ENSG00000083799 ENSG00000083799 HGNC:2584 FLCN gene FLCN Expert Review Green;London North GLH;NHS GMS Multiple monogenic benign skin tumours MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Birt-Hogg-Dub syndrome, OMIM:135150 False 3 100;0;0 2.4 False ENSG00000154803 ENSG00000154803 HGNC:27310 LEMD3 gene LEMD3 Expert Review Green;London North GLH;NHS GMS Multiple monogenic benign skin tumours MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Osteopoikilosis with or without melorheostosis, OMIM:166700;BUSCHKE-OLLENDORFF SYNDROME, OMIM:166700 False 3 100;0;0 2.4 False ENSG00000174106 ENSG00000174106 HGNC:28887 MLH1 gene MLH1 Expert Review Green;London North GLH;NHS GMS Multiple monogenic benign skin tumours MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Muir-Torre syndrome, OMIM:158320 False 3 100;0;0 2.4 False ENSG00000076242 ENSG00000076242 HGNC:7127 MSH2 gene MSH2 Expert Review Green;London North GLH;NHS GMS Multiple monogenic benign skin tumours MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Muir-Torre syndrome, OMIM:158320 False 3 100;0;0 2.4 False ENSG00000095002 ENSG00000095002 HGNC:7325 PDGFRB gene PDGFRB Expert Review Green;London North GLH;NHS GMS Multiple monogenic benign skin tumours MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Myofibromatosis, infantile, 1, OMIM:228550;myofibromatosis, infantile, 1, MONDO:0009227 23731537;23731542 False 3 50;0;50 2.4 False ENSG00000113721 ENSG00000113721 HGNC:8804 MSH6 gene MSH6 Expert list;Expert Review Amber Multiple monogenic benign skin tumours MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Muir-Torre syndrome, MONDO:0008018 False 2 0;100;0 2.4 False ENSG00000116062 ENSG00000116062 HGNC:7329 NOTCH3 gene NOTCH3 Expert Review Amber;Other Multiple monogenic benign skin tumours MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted ?Myofibromatosis, infantile 2, OMIM:615293;myofibromatosis, infantile, 2, MONDO:0014122 33509954;23731542 False 2 0;100;0 2.4 False ENSG00000074181 ENSG00000074181 HGNC:7883 PMS2 gene PMS2 Expert list;Expert Review Amber Multiple monogenic benign skin tumours BIALLELIC, autosomal or pseudoautosomal Muir-Torre syndrome, MONDO:0008018 False 2 0;100;0 2.4 False ENSG00000122512 ENSG00000122512 HGNC:9122 PRDM10 gene PRDM10 Literature Multiple monogenic benign skin tumours MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Fibrofolliculoma, HP:0030436;lipomatosis, MONDO:0006574;renal cell carcinoma, MONDO:0005086 36440963 False 1 0;0;100 2.4 False ENSG00000170325 ENSG00000170325 HGNC:13995