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 APC gene APC Expert list;Expert Review Green Additional findings health related - children MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Familial Adenomatous Polyposis;Adult and child;Bowel cancer predisposition False 3 0;0;0 1.0 False ENSG00000134982 ENSG00000134982 HGNC:583 APOB gene APOB Expert Review Green;Other Additional findings health related - children MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Adult and child;Familial hypercholesterolaemia False 3 0;0;0 1.0 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000084674 ENSG00000084674 HGNC:603 LDLR gene LDLR Expert list;Expert Review Green Additional findings health related - children MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Adult and child;Familial hypercholesterolaemia False 3 0;0;0 1.0 False ENSG00000130164 ENSG00000130164 HGNC:6547 MEN1 gene MEN1 Expert list;Expert Review Green Additional findings health related - children MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Other cancer predisposition;Adult and child;Myltiple endocrine Neoplasia Type 1 False 3 0;0;0 1.0 False ENSG00000133895 ENSG00000133895 HGNC:7010 PCSK9 gene PCSK9 Expert Review Green;Other Additional findings health related - children MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Adult and child;Familial hypercholesterolaemia False 3 0;0;0 1.0 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000169174 ENSG00000169174 HGNC:20001 RET gene RET Expert Review Green;Other Additional findings health related - children MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Other cancer predisposition;Myltiple endocrine Neoplasia Type 2;Adult and child False 3 0;0;0 1.0 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 VHL gene VHL Expert Review Green;Other Additional findings health related - children MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Other cancer predisposition;Von Hippel Lindau Syndrome;Adult and child False 3 0;0;0 1.0 False ENSG00000134086 ENSG00000134086 HGNC:12687