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