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
APOA5	gene	APOA5	Eligibility statement prior genetic testing;Expert Review Green;Radboud University Medical Center, Nijmegen;UKGTN	Severe hypertriglyceridaemia	Arteriopathies	Cardiovascular disorders	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Hyperchylomicronemia, late-onset OMIM:144650;hyperlipoproteinemia type V MONDO:0007762;{Hypertriglyceridemia, susceptibility to} OMIM:145750;hypertriglyceridemia, familial MONDO:0007788				27604308;12417525;27678447;16200213;23307945		False	3	100;0;0	1.18	False		ENSG00000110243	ENSG00000110243	HGNC:17288													
APOC2	gene	APOC2	Eligibility statement prior genetic testing;Expert Review Green;UKGTN	Severe hypertriglyceridaemia	Arteriopathies	Cardiovascular disorders	BIALLELIC, autosomal or pseudoautosomal	"Hyperlipoproteinemia, type Ib	207750"						False	3	100;0;0	1.18	False		ENSG00000234906	ENSG00000234906	HGNC:609													
CREB3L3	gene	CREB3L3	Expert Review Green;Literature	Severe hypertriglyceridaemia	Arteriopathies	Cardiovascular disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Hypertriglyceridemia 2, OMIM:619324				29954705;21666694;26427795;22135386		False	3	100;0;0	1.18	False		ENSG00000060566	ENSG00000060566	HGNC:18855													
GPD1	gene	GPD1	Expert Review Green;Radboud University Medical Center, Nijmegen	Severe hypertriglyceridaemia	Arteriopathies	Cardiovascular disorders	BIALLELIC, autosomal or pseudoautosomal	Hypertriglyceridemia, transient infantile, 614480				22226083;24549054		False	3	100;0;0	1.18	False		ENSG00000167588	ENSG00000167588	HGNC:4455													
GPIHBP1	gene	GPIHBP1	Eligibility statement prior genetic testing;Expert Review Green;UKGTN	Severe hypertriglyceridaemia	Arteriopathies	Cardiovascular disorders	BIALLELIC, autosomal or pseudoautosomal	Hyperlipoproteinemia, type 1D, 615947						False	3	100;0;0	1.18	False		ENSG00000182851	ENSG00000277494	HGNC:24945													
LMF1	gene	LMF1	Eligibility statement prior genetic testing;Expert Review Green;UKGTN	Severe hypertriglyceridaemia	Arteriopathies	Cardiovascular disorders	BIALLELIC, autosomal or pseudoautosomal	Lipase deficiency, combined, 246650				17994020;19820022;30885219;30420299;29910226;22239554		False	3	100;0;0	1.18	False		ENSG00000103227	ENSG00000103227	HGNC:14154													
LPL	gene	LPL	Eligibility statement prior genetic testing;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN	Severe hypertriglyceridaemia	Arteriopathies	Cardiovascular disorders	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	"Combined hyperlipidemia, familial 	144250;Lipoprotein lipase deficiency, 238600"						False	3	100;0;0	1.18	False		ENSG00000175445	ENSG00000175445	HGNC:6677													
CELSR2	gene	CELSR2	Other	Severe hypertriglyceridaemia	Arteriopathies	Cardiovascular disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	hypertriglyceridaemia						False	1	0;0;100	1.18	False		ENSG00000143126	ENSG00000143126	HGNC:3231													
