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 ACD gene ACD Expert Review Amber;NHS GMS Familial melanoma MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown False 2 0;100;0 2.4 False ENSG00000102977 ENSG00000102977 HGNC:25070 BRCA2 gene BRCA2 Expert Review Amber;NHS GMS Familial melanoma MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown False 2 0;100;0 2.4 False ENSG00000139618 ENSG00000139618 HGNC:1101 TERF2IP gene TERF2IP Expert Review Amber;NHS GMS Familial melanoma False 2 0;100;0 2.4 False ENSG00000166848 ENSG00000166848 HGNC:19246 TERT gene TERT Expert List;Expert Review Amber;NHS GMS Familial melanoma MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown {Melanoma, cutaneous malignant, 9}, OMIM:615134 23348503;23348506;35912549 False 2 50;50;0 2.4 False ENSG00000164362 ENSG00000164362 HGNC:11730