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 APOB gene APOB Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Familial hypercholesterolaemia (GMS) MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hypercholesterolemia, familial, 2, OMIM:144010 8141833;25414277;23433573 False 3 100;0;0 2.4 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 APOE gene APOE Emory Genetics Laboratory;Expert Review Green;NHS GMS;Radboud University Medical Center, Nijmegen Familial hypercholesterolaemia (GMS) BOTH monoallelic and biallelic, autosomal or pseudoautosomal Hyperlipoproteinemia, type III, OMIM:617347 11095479;23433584;24267230;26802169;16094309;22481068;22949395;34058468 False 3 75;0;25 2.4 False ENSG00000130203 ENSG00000130203 HGNC:613 LDLR gene LDLR Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Familial hypercholesterolaemia (GMS) MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hypercholesterolemia, familial, 1, OMIM:143890 17142622;25414277;23433573 False 3 100;0;0 2.4 False ENSG00000130164 ENSG00000130164 HGNC:6547 LDLRAP1 gene LDLRAP1 Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Familial hypercholesterolaemia (GMS) BIALLELIC, autosomal or pseudoautosomal Hypercholesterolemia, familial, 4, OMIM:603813 12417523 False 3 100;0;0 2.4 False ENSG00000157978 ENSG00000157978 HGNC:18640 PCSK9 gene PCSK9 Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Familial hypercholesterolaemia (GMS) MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hypercholesterolemia, familial, 3, OMIM:603776 16224054;23433573 False 3 100;0;0 2.4 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