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
APOB	gene	APOB	Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN	Familial hypercholesterolaemia (GMS)		Lipids	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Hypercholesterolemia, familial, 2, OMIM:144010				8141833;25414277;23433573		False	3	100;0;0	2.5	False	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	Emory Genetics Laboratory;Expert Review Green;NHS GMS;Radboud University Medical Center, Nijmegen	Familial hypercholesterolaemia (GMS)		Lipids	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Hyperlipoproteinemia, type III, OMIM:617347				11095479;23433584;24267230;26802169;16094309;22481068;22949395;34058468		False	3	75;0;25	2.5	False		ENSG00000130203	ENSG00000130203	HGNC:613													
LDLR	gene	LDLR	Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN	Familial hypercholesterolaemia (GMS)		Lipids	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Hypercholesterolemia, familial, 1, OMIM:143890				17142622;25414277;23433573		False	3	100;0;0	2.5	False		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 (GMS)		Lipids	BIALLELIC, autosomal or pseudoautosomal	Hypercholesterolemia, familial, 4, OMIM:603813				12417523		False	3	100;0;0	2.5	False		ENSG00000157978	ENSG00000157978	HGNC:18640													
PCSK9	gene	PCSK9	Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN	Familial hypercholesterolaemia (GMS)		Lipids	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Hypercholesterolemia, familial, 3, OMIM:603776				16224054;23433573		False	3	100;0;0	2.5	False	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													
GCKR	gene	GCKR	Other	Familial hypercholesterolaemia (GMS)		Lipids	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	familial hypercholesterolemia MONDO:0005439						False	1	0;0;100	2.5	False		ENSG00000084734	ENSG00000084734	HGNC:4196