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 CDKN1B gene CDKN1B Expert list;Expert Review Green Neuroendocrine cancer pertinent cancer susceptibility Pertinent cancer susceptibility gene panel Cancer Programme MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Multiple endocrine neoplasia, type IV, OMIM:610755 False 3 100;0;0 1.4 False ENSG00000111276 ENSG00000111276 HGNC:1785 FH gene FH Expert list;Expert Review Green Neuroendocrine cancer pertinent cancer susceptibility Pertinent cancer susceptibility gene panel Cancer Programme MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neuroendocrine cancer False 3 100;0;0 1.4 False ENSG00000091483 ENSG00000091483 HGNC:3700 MAX gene MAX Expert list;Expert Review Green Neuroendocrine cancer pertinent cancer susceptibility Pertinent cancer susceptibility gene panel Cancer Programme MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted {Pheochromocytoma, susceptibility to}, OMIM:171300 False 3 100;0;0 1.4 False ENSG00000125952 ENSG00000125952 HGNC:6913 MEN1 gene MEN1 Expert list;Expert Review Green Neuroendocrine cancer pertinent cancer susceptibility Pertinent cancer susceptibility gene panel Cancer Programme MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neuroendocrine cancer False 3 100;0;0 1.4 False ENSG00000133895 ENSG00000133895 HGNC:7010 RET gene RET Expert list;Expert Review Green Neuroendocrine cancer pertinent cancer susceptibility Pertinent cancer susceptibility gene panel Cancer Programme MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neuroendocrine cancer False 3 100;0;0 1.4 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000165731 ENSG00000165731 HGNC:9967 SDHA gene SDHA Expert list;Expert Review Green Neuroendocrine cancer pertinent cancer susceptibility Pertinent cancer susceptibility gene panel Cancer Programme MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Paragangliomas 5, OMIM:614165 False 3 100;0;0 1.4 False ENSG00000073578 ENSG00000073578 HGNC:10680 SDHAF2 gene SDHAF2 Expert list;Expert Review Green Neuroendocrine cancer pertinent cancer susceptibility Pertinent cancer susceptibility gene panel Cancer Programme MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neuroendocrine cancer False 3 100;0;0 1.4 False ENSG00000167985 ENSG00000167985 HGNC:26034 SDHB gene SDHB Expert list;Expert Review Green Neuroendocrine cancer pertinent cancer susceptibility Pertinent cancer susceptibility gene panel Cancer Programme MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Paragangliomas 4, OMIM:115310;Pheochromocytoma, OMIM:171300;Paraganglioma and gastric stromal sarcoma, OMIM:606864 False 3 100;0;0 1.4 False ENSG00000117118 ENSG00000117118 HGNC:10681 SDHC gene SDHC Expert list;Expert Review Green Neuroendocrine cancer pertinent cancer susceptibility Pertinent cancer susceptibility gene panel Cancer Programme MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neuroendocrine cancer False 3 100;0;0 1.4 False ENSG00000143252 ENSG00000143252 HGNC:10682 SDHD gene SDHD Expert list;Expert Review Green Neuroendocrine cancer pertinent cancer susceptibility Pertinent cancer susceptibility gene panel Cancer Programme MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neuroendocrine cancer False 3 100;0;0 1.4 False ENSG00000204370 ENSG00000204370 HGNC:10683 TMEM127 gene TMEM127 Expert list;Expert Review Green Neuroendocrine cancer pertinent cancer susceptibility Pertinent cancer susceptibility gene panel Cancer Programme MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neuroendocrine cancer False 3 100;0;0 1.4 False ENSG00000135956 ENSG00000135956 HGNC:26038 VHL gene VHL Expert list;Expert Review Green Neuroendocrine cancer pertinent cancer susceptibility Pertinent cancer susceptibility gene panel Cancer Programme MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neuroendocrine cancer False 3 100;0;0 1.4 False ENSG00000134086 ENSG00000134086 HGNC:12687