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 1.31 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 1.31 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 1.31 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 1.31 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 1.31 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 1.31 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 1.31 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 1.31 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 1.31 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 ABCA1 gene ABCA1 Emory Genetics Laboratory;Expert Review Red;Radboud University Medical Center, Nijmegen Familial hypercholesterolaemia Arteriopathies Cardiovascular disorders Tangier disease, 205400; HDL deficiency, type 2, 604091; {Coronary artery disease in familial hypercholesterolemia, protection against}, 143890;Hypercholesterolemia False 1 0;0;100 1.31 True ENSG00000165029 ENSG00000165029 HGNC:29 ACE gene ACE Radboud University Medical Center, Nijmegen Familial hypercholesterolaemia Arteriopathies Cardiovascular disorders {Myocardial infarction, susceptibility to};{Alzheimer disease, susceptibility to}, 104300;{Microvascular complications of diabetes 3}, 612624;[Angiotensin I-converting enzyme, benign serum increase];{SARS, progression of};Renal tubular False 1 0;0;100 1.31 False ENSG00000159640 ENSG00000159640 HGNC:2707 ANGPTL3 gene ANGPTL3 Emory Genetics Laboratory Familial hypercholesterolaemia Arteriopathies Cardiovascular disorders Hypercholesterolemia False 1 0;0;100 1.31 False ENSG00000132855 ENSG00000132855 HGNC:491 APOA1 gene APOA1 Emory Genetics Laboratory Familial hypercholesterolaemia Arteriopathies Cardiovascular disorders Hypercholesterolemia False 1 0;0;100 1.31 False ENSG00000118137 ENSG00000118137 HGNC:600 APOA2 gene APOA2 Radboud University Medical Center, Nijmegen Familial hypercholesterolaemia Arteriopathies Cardiovascular disorders Apolipoprotein A-II deficiency {Hypercholesterolemia, familial, modification of}, 143890 False 1 0;0;100 1.31 False ENSG00000158874 ENSG00000158874 HGNC:601 APOA5 gene APOA5 Emory Genetics Laboratory Familial hypercholesterolaemia Arteriopathies Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Hyperchylomicronemia, late-onset 144650;{Hypertriglyceridemia, susceptibility to} 145750" False 1 0;0;100 1.31 False ENSG00000110243 ENSG00000110243 HGNC:17288 APOC2 gene APOC2 Emory Genetics Laboratory;Expert Review Red Familial hypercholesterolaemia Arteriopathies Cardiovascular disorders BIALLELIC, autosomal or pseudoautosomal "Hyperlipoproteinemia, type Ib 207750" False 1 0;0;100 1.31 False ENSG00000234906 ENSG00000234906 HGNC:609 APOC3 gene APOC3 Emory Genetics Laboratory Familial hypercholesterolaemia Arteriopathies Cardiovascular disorders Hypercholesterolemia False 1 0;0;100 1.31 False ENSG00000110245 ENSG00000110245 HGNC:610 CELSR2 gene CELSR2 Eligibility statement prior genetic testing Familial hypercholesterolaemia Arteriopathies Cardiovascular disorders 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) PMID: 23433573; 25414277 False 1 0;0;100 1.31 False ENSG00000143126 ENSG00000143126 HGNC:3231 CETP gene CETP Emory Genetics Laboratory Familial hypercholesterolaemia Arteriopathies Cardiovascular disorders Hypercholesterolemia False 1 0;0;100 1.31 False ENSG00000087237 ENSG00000087237 HGNC:1869 EPHX2 gene EPHX2 Radboud University Medical Center, Nijmegen Familial hypercholesterolaemia Arteriopathies Cardiovascular disorders Hypercholesterolemia, familial, due to LDLR defect, modifier of, 143890 False 1 0;0;100 1.31 False ENSG00000120915 ENSG00000120915 HGNC:3402 ESR1 gene ESR1 Radboud University Medical Center, Nijmegen Familial hypercholesterolaemia Arteriopathies Cardiovascular disorders Estrogen resistance, 615363;{HDL response to hormone replacement, augmented};{Migraine, susceptibility to}, 157300;{Atherosclerosis, susceptibility to};{Myocardial infarction, susceptibility to}, 608446;{Breast cancer}, 114480 (1); {HDL response to hormone replacement, augmented}; {Migraine, susceptibility to}, 157300; {Atherosclerosis, susceptibility to}; {Myocardial infarction, susceptibility to}, 608446; {Breast cancer}, 114480 (1) False 1 0;0;100 1.31 False ENSG00000091831 ENSG00000091831 HGNC:3467 F13A1 gene F13A1 Radboud University Medical Center, Nijmegen Familial hypercholesterolaemia Arteriopathies Cardiovascular disorders Factor XIIIA deficiency, 613225;{Myocardial infarction, protection against}, 608446;{Venous thrombosis, protection against}, 188050; {Myocardial infarction, protection against}, 608446; {Venous thrombosis, protection against}, 188050 False 1 0;0;100 1.31 False ENSG00000124491 ENSG00000124491 HGNC:3531 F7 gene F7 Radboud University Medical Center, Nijmegen Familial hypercholesterolaemia Arteriopathies Cardiovascular disorders Factor VII deficiency, 227500;{Myocardial infarction, decreased susceptibility to}, 608446 False 1 0;0;100 1.31 False ENSG00000057593 ENSG00000057593 HGNC:3544 GCLC gene GCLC Radboud University Medical Center, Nijmegen Familial hypercholesterolaemia Arteriopathies Cardiovascular disorders Hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency, 230450; {Myocardial infarction, susceptibility to}, 608446; Myocardial infarction, susceptibility to, 608446 False 1 0;0;100 1.31 False ENSG00000001084 ENSG00000001084 HGNC:4311 GCLM gene GCLM Radboud University Medical Center, Nijmegen Familial hypercholesterolaemia Arteriopathies Cardiovascular disorders Myocardial infarction, susceptibility to, 608446 False 1 0;0;100 1.31 False ENSG00000023909 ENSG00000023909 HGNC:4312 GHR gene GHR Radboud University Medical Center, Nijmegen Familial hypercholesterolaemia Arteriopathies Cardiovascular disorders Laron dwarfism, 262500; Short stature, 604271; {Hypercholesterolemia, familial, modification of}, 143890; Increased responsiveness to growth hormone False 1 0;0;100 1.31 False ENSG00000112964 ENSG00000112964 HGNC:4263 GPD1 gene GPD1 Emory Genetics Laboratory Familial hypercholesterolaemia Arteriopathies Cardiovascular disorders Hypercholesterolemia False 1 0;0;100 1.31 False ENSG00000167588 ENSG00000167588 HGNC:4455 GPIHBP1 gene GPIHBP1 Emory Genetics Laboratory Familial hypercholesterolaemia Arteriopathies Cardiovascular disorders Hypercholesterolemia False 1 0;0;100 1.31 False ENSG00000182851 ENSG00000277494 HGNC:24945 HFE gene HFE Eligibility statement prior genetic testing Familial hypercholesterolaemia Arteriopathies Cardiovascular disorders Gene part of the Global Lipid Genetic Consortium 12-SNP LDL-C gene score calculation (Talmud et al, 2013) PMID: 23433580 False 1 0;0;100 1.31 False ENSG00000010704 ENSG00000010704 HGNC:4886 ITGB3 gene ITGB3 Radboud University Medical Center, Nijmegen Familial hypercholesterolaemia Arteriopathies Cardiovascular disorders PL(A) platelet antigen Glanzmann thrombasthenia, 273800; Thrombocytopenia, neonatal alloimmune; {Myocardial infarction, susceptibility to}, 608446; Purpura, posttransfusion; Bleeding disorder, platelet-type, 16, autosomal dominant, 187800 False 1 0;0;100 1.31 False ENSG00000259207 ENSG00000259207 HGNC:6156 LCAT gene LCAT Emory Genetics Laboratory Familial hypercholesterolaemia Arteriopathies Cardiovascular disorders Hypercholesterolemia False 1 0;0;100 1.31 False ENSG00000213398 ENSG00000213398 HGNC:6522 LIPC gene LIPC Emory Genetics Laboratory Familial hypercholesterolaemia Arteriopathies Cardiovascular disorders Hypercholesterolemia False 1 0;0;100 1.31 False ENSG00000166035 ENSG00000166035 HGNC:6619 LMF1 gene LMF1 Emory Genetics Laboratory Familial hypercholesterolaemia Arteriopathies Cardiovascular disorders Hypercholesterolemia False 1 0;0;100 1.31 False ENSG00000103227 ENSG00000103227 HGNC:14154 LPL gene LPL Emory Genetics Laboratory Familial hypercholesterolaemia Arteriopathies Cardiovascular disorders Hypercholesterolemia False 1 0;0;100 1.31 False ENSG00000175445 ENSG00000175445 HGNC:6677 MTTP gene MTTP Emory Genetics Laboratory Familial hypercholesterolaemia Arteriopathies Cardiovascular disorders Hypercholesterolemia False 1 0;0;100 1.31 False ENSG00000138823 ENSG00000138823 HGNC:7467 MYLIP gene MYLIP Eligibility statement prior genetic testing Familial hypercholesterolaemia Arteriopathies Cardiovascular disorders Gene part of the Global Lipid Genetic Consortium 12-SNP LDL-C gene score calculation (Talmud et al, 2013) PMID: 23433581 False 1 0;0;100 1.31 False ENSG00000007944 ENSG00000007944 HGNC:21155 NYNRIN gene NYNRIN Eligibility statement prior genetic testing Familial hypercholesterolaemia Arteriopathies Cardiovascular disorders Gene part of the Global Lipid Genetic Consortium 12-SNP LDL-C gene score calculation (Talmud et al, 2013) PMID: 23433583 False 1 0;0;100 1.31 False ENSG00000205978 ENSG00000205978 HGNC:20165 SAR1B gene SAR1B Emory Genetics Laboratory Familial hypercholesterolaemia Arteriopathies Cardiovascular disorders Hypercholesterolemia False 1 0;0;100 1.31 False ENSG00000152700 ENSG00000152700 HGNC:10535 SCARB1 gene SCARB1 Emory Genetics Laboratory Familial hypercholesterolaemia Arteriopathies Cardiovascular disorders Hypercholesterolemia False 1 0;0;100 1.31 False ENSG00000073060 ENSG00000073060 HGNC:1664 SLC22A1 gene SLC22A1 Eligibility statement prior genetic testing Familial hypercholesterolaemia Arteriopathies Cardiovascular disorders Gene part of the Global Lipid Genetic Consortium 12-SNP LDL-C gene score calculation (Talmud et al, 2013) PMID: 23433579 False 1 0;0;100 1.31 False ENSG00000175003 ENSG00000175003 HGNC:10963 SREBF2 gene SREBF2 Literature Familial hypercholesterolaemia Arteriopathies Cardiovascular disorders Unknown Familial Hypercholesterolaemia 11950857; doi:10. 1007/ s12265-016-9673-5 False 1 0;0;0 1.31 False ENSG00000198911 ENSG00000198911 HGNC:11290 ST3GAL4 gene ST3GAL4 Eligibility statement prior genetic testing Familial hypercholesterolaemia Arteriopathies Cardiovascular disorders Gene part of the Global Lipid Genetic Consortium 12-SNP LDL-C gene score calculation (Talmud et al, 2013) PMID: 23433582 False 1 0;0;100 1.31 False ENSG00000110080 ENSG00000110080 HGNC:10864 STAP1 gene STAP1 Expert Review Red;Literature Familial hypercholesterolaemia Arteriopathies Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted hypercholesterolemia 25035151;26036859;25170087 False 1 0;0;0 1.31 True ENSG00000035720 ENSG00000035720 HGNC:24133