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 CDKN2B gene CDKN2B Expert Review Amber;UKGTN Inherited renal cancer MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Renal cell carcinoma (disease), MONDO:0005086 25873077 False 2 100;0;0 1.27 False ENSG00000147883 ENSG00000147883 HGNC:1788 MITF gene MITF Expert Review Amber;UKGTN Inherited renal cancer MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted {Melanoma, cutaneous malignant, susceptibility to, 8}, OMIM:614456;Renal cell carcinoma (disease), MONDO:0005086 27899189;22012259 False 2 0;100;0 1.27 False ENSG00000187098 ENSG00000187098 HGNC:7105 PTEN gene PTEN Expert List;Expert Review Amber;UKGTN Inherited renal cancer MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Renal cell carcinoma (disease), MONDO:0005086 False 2 100;0;0 1.27 False ENSG00000171862 ENSG00000171862 HGNC:9588 SDHC gene SDHC Expert Review Amber;UKGTN Inherited renal cancer MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Renal cell carcinoma (disease), MONDO:0005086 27899189 False 2 100;0;0 1.27 False ENSG00000143252 ENSG00000143252 HGNC:10682 SDHD gene SDHD Expert Review Amber;UKGTN Inherited renal cancer MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Renal cell carcinoma (disease), MONDO:0005086 27899189;23083876 False 2 100;0;0 1.27 False ENSG00000204370 ENSG00000204370 HGNC:10683 TMEM127 gene TMEM127 Expert Review Amber;UKGTN Inherited renal cancer MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Renal cell carcinoma (disease), MONDO:0005086 24334765 False 2 100;0;0 1.27 False ENSG00000135956 ENSG00000135956 HGNC:26038