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	Expert Review Green;Victorian Clinical Genetics Services	Familial hypercholesterolaemia		Cardiovascular disorders	BIALLELIC, autosomal or pseudoautosomal	Sitosterolaemia 2, MIM# 618666			Abnormal circulating cholesterol concentration;HP:0003107	34304999;33907061;32546081;23556150		False	3	100;0;0	1.0	True		ENSG00000138075	ENSG00000138075	HGNC:13886													
ABCG8	gene	ABCG8	Expert Review Green;Victorian Clinical Genetics Services	Familial hypercholesterolaemia		Cardiovascular disorders	BIALLELIC, autosomal or pseudoautosomal	"Sitosterolemia	MONDO:0008863"			Abnormal circulating cholesterol concentration;HP:0003107	23556150		False	3	100;0;0	1.0	False		ENSG00000143921	ENSG00000143921	HGNC:13887													
APOB	gene	APOB	Expert Review Green;Victorian Clinical Genetics Services	Familial hypercholesterolaemia		Cardiovascular disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	hypercholesterolemia, autosomal dominant, type B MONDO:0007751			Abnormal circulating cholesterol concentration;HP:0003107	24404629		False	3	100;0;0	1.0	False	Other	ENSG00000084674	ENSG00000084674	HGNC:603													
APOE	gene	APOE	Expert Review Green;Victorian Clinical Genetics Services	Familial hypercholesterolaemia		Cardiovascular disorders	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Hyperlipoproteinemia, type III (MIM#617347);Sea-blue histiocyte disease (MIM#269600)			Abnormal circulating cholesterol concentration;HP:0003107	27014949;34058468;33679311		False	3	100;0;0	1.0	True		ENSG00000130203	ENSG00000130203	HGNC:613													
CYP27A1	gene	CYP27A1	Expert Review Green;NHS GMS;Victorian Clinical Genetics Services	Familial hypercholesterolaemia		Cardiovascular disorders	BIALLELIC, autosomal or pseudoautosomal	"Cerebrotendinous xanthomatosis	MONDO:0008948"			Abnormal circulating cholesterol concentration;HP:0003107			False	3	100;0;0	1.0	True		ENSG00000135929	ENSG00000135929	HGNC:2605													
LDLR	gene	LDLR	Expert Review Green;Victorian Clinical Genetics Services	Familial hypercholesterolaemia		Cardiovascular disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Hypercholesterolemia, familial, 1 143890			Abnormal circulating cholesterol concentration;HP:0003107	10978268		False	3	100;0;0	1.0	True		ENSG00000130164	ENSG00000130164	HGNC:6547													
LDLRAP1	gene	LDLRAP1	Expert Review Green;Victorian Clinical Genetics Services	Familial hypercholesterolaemia		Cardiovascular disorders	BIALLELIC, autosomal or pseudoautosomal	Hypercholesterolemia, familial, 4, MIM# 603813			Abnormal circulating cholesterol concentration;HP:0003107	4351242		False	3	100;0;0	1.0	True		ENSG00000157978	ENSG00000157978	HGNC:18640													
LIPA	gene	LIPA	Expert Review Green;Victorian Clinical Genetics Services	Familial hypercholesterolaemia		Cardiovascular disorders	BIALLELIC, autosomal or pseudoautosomal	Cholesteryl ester storage disease, MIM# 278000;Wolman disease, MIM# 278000;Lysosomal acid lipase deficiency, MONDO:0010204			Abnormal circulating cholesterol concentration;HP:0003107	11487567		False	3	100;0;0	1.0	True		ENSG00000107798	ENSG00000107798	HGNC:6617													
LPL	gene	LPL	Expert Review Green;Victorian Clinical Genetics Services	Familial hypercholesterolaemia		Cardiovascular disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Combined hyperlipidemia, familial, MIM# 144250			Abnormal circulating cholesterol concentration;HP:0003107			False	3	100;0;0	1.0	True		ENSG00000175445	ENSG00000175445	HGNC:6677													
PCSK9	gene	PCSK9	Expert Review Green;Victorian Clinical Genetics Services	Familial hypercholesterolaemia		Cardiovascular disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	hypercholesterolemia, autosomal dominant, 3 MONDO:0011369			Abnormal circulating cholesterol concentration;HP:0003107	24404629;16577715;15654334		False	3	100;0;0	1.0	True	Other	ENSG00000169174	ENSG00000169174	HGNC:20001													
CAV3	gene	CAV3	Expert Review Amber;Expert Review Green;Literature	Familial hypercholesterolaemia		Cardiovascular disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	"Myopathy, distal, Tateyama type	614321;Rippling muscle disease 2	606072"			Abnormal circulating cholesterol concentration;HP:0003107	32004987;28807458		False	2	50;50;0	1.0	True		ENSG00000182533	ENSG00000182533	HGNC:1529