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 ABCG5 gene ABCG5 Emory Genetics Laboratory;Expert Review Green Familial hypercholesterolaemia Arteriopathies Cardiovascular disorders BIALLELIC, autosomal or pseudoautosomal Hypercholesterolemia False 3 100;0;0 1.30 True ENSG00000138075 ENSG00000138075 HGNC:13886 ABCG8 gene ABCG8 Eligibility statement prior genetic testing;Emory Genetics Laboratory;Expert Review Green Familial hypercholesterolaemia Arteriopathies Cardiovascular disorders BIALLELIC, autosomal or pseudoautosomal Gene part of the Global Lipid Genetic Consortium 12-SNP LDL-C gene score calculation (Talmud et al, 2013); Gene part of the 6-SNP LDL-C gene score calculation (Futema et al, 2015);Hypercholesterolemia PMID: 23433573; 25414277 False 3 100;0;0 1.30 True ENSG00000143921 ENSG00000143921 HGNC:13887 APOB gene APOB Eligibility statement prior genetic testing;Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Familial hypercholesterolaemia Arteriopathies Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hypercholesterolemia, familial, 2, OMIM:144010 PMID: 23433573; 25414277 False 3 100;0;0 1.30 True 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 Eligibility statement prior genetic testing;Emory Genetics Laboratory;Expert Review Green;Radboud University Medical Center, Nijmegen Familial hypercholesterolaemia Arteriopathies Cardiovascular disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal "Hyperlipoproteinemia, type III 617347" 23433584;22949395;26802169;11095479;16094309;22481068;24267230;34058468 False 3 75;0;25 1.30 True ENSG00000130203 ENSG00000130203 HGNC:613 CYP27A1 gene CYP27A1 Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Familial hypercholesterolaemia Arteriopathies Cardiovascular disorders BIALLELIC, autosomal or pseudoautosomal Cerebrotendinous xanthomatosis, 213700;Cerebrotendinous Xanthomatosis;CEREBROTENDINOUS XANTHOMATOSIS 24442603: 29484516 False 3 50;0;50 1.30 True ENSG00000135929 ENSG00000135929 HGNC:2605 LDLR gene LDLR Eligibility statement prior genetic testing;Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Familial hypercholesterolaemia Arteriopathies Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Gene part of the Global Lipid Genetic Consortium 12-SNP LDL-C gene score calculation (Talmud et al, 2013); Gene part of the 6-SNP LDL-C gene score calculation (Futema et al, 2015);C3 Hypercholesterolemia, familial, 143890; LDL cholesterol level QTL2, 143890;Familial Hypercholesterolemia;Hypercholesterolemia;Familial Hypercholesterolaemia 23433573;25414277;27821657 False 3 100;0;0 1.30 True 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 Arteriopathies Cardiovascular disorders BIALLELIC, autosomal or pseudoautosomal Hypercholesterolemia, familial, autosomal recessive, 603813;Familial Hypercholesterolemia;Hypercholesterolemia;Familial Hypercholesterolaemia False 3 100;0;0 1.30 True ENSG00000157978 ENSG00000157978 HGNC:18640 LIPA gene LIPA Emory Genetics Laboratory;Expert Review Green Familial hypercholesterolaemia Arteriopathies Cardiovascular disorders BIALLELIC, autosomal or pseudoautosomal Hypercholesterolemia;Lysosomal acid lipase deficiency False 3 0;0;100 1.30 False ENSG00000107798 ENSG00000107798 HGNC:6617 PCSK9 gene PCSK9 Eligibility statement prior genetic testing;Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Familial hypercholesterolaemia Arteriopathies Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Gene part of the Global Lipid Genetic Consortium 12-SNP LDL-C gene score calculation (Talmud et al, 2013);Hypercholesterolemia, familial, 3, 603776; {Low density lipoprotein cholesterol level QTL 1}, 603776;Familial Hypercholesterolemia;Hypercholesterolemia;Familial Hypercholesterolaemia PMID: 23433573 False 3 100;0;0 1.30 True 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