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 ABCA1 gene ABCA1 Expert Review Green;Royal Melbourne Hospital Dyslipidaemia Endocrine disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Tangier disease, MIM# 205400;HDL deficiency, familial, 1, MIM# 604091 Abnormal circulating lipid concentration;HP:0003119 10431237;10431236 False 3 100;0;0 0.42 True ENSG00000165029 ENSG00000165029 HGNC:29 ABCG5 gene ABCG5 Expert Review Green;Royal Melbourne Hospital Dyslipidaemia Endocrine disorders BIALLELIC, autosomal or pseudoautosomal Sitosterolaemia 2, MIM# 618666 Abnormal circulating lipid concentration;HP:0003119 False 3 100;0;0 0.42 True ENSG00000138075 ENSG00000138075 HGNC:13886 ABCG8 gene ABCG8 Expert Review Green;Royal Melbourne Hospital Dyslipidaemia Endocrine disorders BIALLELIC, autosomal or pseudoautosomal Sitosterolemia Abnormal circulating lipid concentration;HP:0003119 False 3 0;0;0 0.42 False ENSG00000143921 ENSG00000143921 HGNC:13887 ALMS1 gene ALMS1 Expert Review Green;Royal Melbourne Hospital Dyslipidaemia Endocrine disorders BIALLELIC, autosomal or pseudoautosomal Alstrom syndrome Abnormal circulating lipid concentration;HP:0003119 False 3 0;0;0 0.42 False ENSG00000116127 ENSG00000116127 HGNC:428 ANGPTL3 gene ANGPTL3 Expert list;Expert Review Green Dyslipidaemia Endocrine disorders BIALLELIC, autosomal or pseudoautosomal Hypobetalipoproteinemia, familial, 2 MIM#605019 Abnormal circulating lipid concentration;HP:0003119 23150577;20942659;22155345;22062970 False 3 100;0;0 0.42 False ENSG00000132855 ENSG00000132855 HGNC:491 APOA1 gene APOA1 Expert Review Green;Royal Melbourne Hospital Dyslipidaemia Endocrine disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Hypoalphalipoproteinaemia, primary, 2, intermediate, MIM# 619836 Abnormal circulating lipid concentration;HP:0003119 16023124 False 3 100;0;0 0.42 True ENSG00000118137 ENSG00000118137 HGNC:600 APOA5 gene APOA5 Expert Review Green;Royal Melbourne Hospital Dyslipidaemia Endocrine disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Hyperchylomicronemia Abnormal circulating lipid concentration;HP:0003119 False 3 0;0;0 0.42 False ENSG00000110243 ENSG00000110243 HGNC:17288 APOB gene APOB Expert Review Green;Royal Melbourne Hospital Dyslipidaemia Endocrine disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Hypobetalipoproteinemia, Hypercholesterolemia Abnormal circulating lipid concentration;HP:0003119 False 3 0;0;0 0.42 False ENSG00000084674 ENSG00000084674 HGNC:603 APOC2 gene APOC2 Expert Review Green;Royal Melbourne Hospital Dyslipidaemia Endocrine disorders BIALLELIC, autosomal or pseudoautosomal "Hyperlipoproteinemia, type Ib MIM#207750" Abnormal circulating lipid concentration;HP:0003119 PMID: 32562799;26044956;32292609;32280258 False 3 100;0;0 0.42 True ENSG00000234906 ENSG00000234906 HGNC:609 APOE gene APOE Expert Review Green;Royal Melbourne Hospital Dyslipidaemia Endocrine disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Sea-blue histiocyte disease, Dysbetalipoproteinemia, familial (Hyperlipoproteinemia), Lipoprotein glomerulopathy Abnormal circulating lipid concentration;HP:0003119 False 3 0;0;0 0.42 False ENSG00000130203 ENSG00000130203 HGNC:613 CYP27A1 gene CYP27A1 Expert Review Green;Literature Dyslipidaemia Endocrine disorders BIALLELIC, autosomal or pseudoautosomal Cerebrotendinous xanthomatosis MIM#213700 Abnormal circulating lipid concentration;HP:0003119 30720493;2019602;20301583 False 3 100;0;0 0.42 False ENSG00000135929 ENSG00000135929 HGNC:2605 GPIHBP1 gene GPIHBP1 Expert list;Expert Review Green;Royal Melbourne Hospital Dyslipidaemia Endocrine disorders BIALLELIC, autosomal or pseudoautosomal Hyperlipoproteinemia, type ID Abnormal circulating lipid concentration;HP:0003119 False 3 100;0;0 0.42 False ENSG00000182851 ENSG00000277494 HGNC:24945 LCAT gene LCAT Expert Review Green;Literature Dyslipidaemia Endocrine disorders BIALLELIC, autosomal or pseudoautosomal Fish-eye disease MIM#136120;Norum disease MIM#245900;Disorders of high density lipoprotein metabolism Abnormal circulating lipid concentration;HP:0003119 30720493;6624548 False 3 100;0;0 0.42 True ENSG00000213398 ENSG00000213398 HGNC:6522 LDLR gene LDLR Expert Review Green;Royal Melbourne Hospital Dyslipidaemia Endocrine disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Hypercholesterolemia Abnormal circulating lipid concentration;HP:0003119 False 3 0;0;0 0.42 False ENSG00000130164 ENSG00000130164 HGNC:6547 LDLRAP1 gene LDLRAP1 Expert Review Green;Royal Melbourne Hospital Dyslipidaemia Endocrine disorders BIALLELIC, autosomal or pseudoautosomal Hypercholesterolemia, familial, 4, MIM# 603813 Abnormal circulating lipid concentration;HP:0003119 4351242 False 3 100;0;0 0.42 True ENSG00000157978 ENSG00000157978 HGNC:18640 LIPA gene LIPA Expert Review Green;Royal Melbourne Hospital Dyslipidaemia Endocrine disorders BIALLELIC, autosomal or pseudoautosomal Wolman disease, Cholesterol ester storage disease Abnormal circulating lipid concentration;HP:0003119 False 3 0;0;0 0.42 False ENSG00000107798 ENSG00000107798 HGNC:6617 LIPC gene LIPC Expert Review Green;NHS GMS Dyslipidaemia Endocrine disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Hepatic lipase deficiency MIM#614025;Inherited mixed hyperlipidaemias;hyperalphalipoproteinemia Abnormal circulating lipid concentration;HP:0003119 1671786;12777476;1883393;23219720;26423094;22464213 False 3 100;0;0 0.42 True ENSG00000166035 ENSG00000166035 HGNC:6619 LMF1 gene LMF1 Expert Review Green;Royal Melbourne Hospital Dyslipidaemia Endocrine disorders BIALLELIC, autosomal or pseudoautosomal Combined lipase deficiency Abnormal circulating lipid concentration;HP:0003119 False 3 0;0;0 0.42 False ENSG00000103227 ENSG00000103227 HGNC:14154 LPL gene LPL Expert Review Green;Royal Melbourne Hospital Dyslipidaemia Endocrine disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Lipoprotein lipase deficiency, Hyperlipoproteinemia, Combined hyperlipidemia, familial Abnormal circulating lipid concentration;HP:0003119 False 3 0;0;0 0.42 False ENSG00000175445 ENSG00000175445 HGNC:6677 MTTP gene MTTP Expert Review Green;NHS GMS Dyslipidaemia Endocrine disorders BIALLELIC, autosomal or pseudoautosomal Abetalipoproteinemia MIM#200100;Inherited hypolipidaemias Abnormal circulating lipid concentration;HP:0003119 27604308;8533758;30720493 False 3 100;0;0 0.42 True ENSG00000138823 ENSG00000138823 HGNC:7467 PCSK9 gene PCSK9 Expert Review Green;Royal Melbourne Hospital Dyslipidaemia Endocrine disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Hypercholesterolemia Abnormal circulating lipid concentration;HP:0003119 False 3 0;0;0 0.42 False ENSG00000169174 ENSG00000169174 HGNC:20001 SAR1B gene SAR1B Expert list;Expert Review Green Dyslipidaemia Endocrine disorders BIALLELIC, autosomal or pseudoautosomal Chylomicron retention disease, MIM# 246700 Abnormal circulating lipid concentration;HP:0003119 12692552 False 3 100;0;0 0.42 True ENSG00000152700 ENSG00000152700 HGNC:10535 CETP gene CETP Expert Review Amber;Literature Dyslipidaemia Endocrine disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Hyperalphalipoproteinemia MIM#143470;Disorders of high density lipoprotein metabolism Abnormal circulating lipid concentration;HP:0003119 12070157;2586614;27604308;2215607;2390095 False 2 100;0;0 0.42 True ENSG00000087237 ENSG00000087237 HGNC:1869 CREB3L3 gene CREB3L3 Expert Review Amber;Royal Melbourne Hospital Dyslipidaemia Endocrine disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Hypertriglyceridaemia-2, MIM#619324 Abnormal circulating lipid concentration;HP:0003119 32580631;29954705;27982131;27291420;26427795;21666694 False 2 0;100;0 0.42 True ENSG00000060566 ENSG00000060566 HGNC:18855 PNLIP gene PNLIP Expert Review Amber;Literature Dyslipidaemia Endocrine disorders BIALLELIC, autosomal or pseudoautosomal Pancreatic lipase deficiency MIM#614338;disorders of lipid and lipoprotein metabolism Abnormal circulating lipid concentration;HP:0003119 31977950;25862608;24262094;27604308 False 2 100;0;0 0.42 True ENSG00000175535 ENSG00000175535 HGNC:9155 SCARB1 gene SCARB1 Expert Review Amber;Literature Dyslipidaemia Endocrine disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal High density lipoprotein cholesterol level QTL6 MIM#610762;Scavenger receptor class B type I deficiency;Inherited hypolipidaemias Abnormal circulating lipid concentration;HP:0003119 21226579;30720493;21480869;26965621;27604308 False 2 100;0;0 0.42 True ENSG00000073060 ENSG00000073060 HGNC:1664 APOC3 gene APOC3 Expert Review Red;Royal Melbourne Hospital Dyslipidaemia Endocrine disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Apolipoprotein C-III deficiency MIM#614028 Abnormal circulating lipid concentration;HP:0003119 PMID: 19074352 False 1 0;0;100 0.42 True ENSG00000110245 ENSG00000110245 HGNC:610 STAP1 gene STAP1 Expert Review Red;Literature Dyslipidaemia Endocrine disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Familial hypercholesterolemia MONDO:0005439 Abnormal circulating lipid concentration;HP:0003119 31809983;31996024;32208993 False 1 0;0;100 0.42 True ENSG00000035720 ENSG00000035720 HGNC:24133