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	Expert Review Green;NHS GMS;South West GLH	Familial chylomicronaemia syndrome (FCS)		Lipids	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	3.4	False		ENSG00000110243	ENSG00000110243	HGNC:17288													
APOC2	gene	APOC2	Expert Review Green;NHS GMS;South West GLH	Familial chylomicronaemia syndrome (FCS)		Lipids	BIALLELIC, autosomal or pseudoautosomal	Hyperlipoproteinemia, type Ib OMIM:207750						False	3	100;0;0	3.4	False		ENSG00000234906	ENSG00000234906	HGNC:609													
APOE	gene	APOE	Expert Review Green;NHS GMS;South West GLH	Familial chylomicronaemia syndrome (FCS)		Lipids	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Hyperlipoproteinemia, type III OMIM:617347;hyperlipoproteinemia type 3 MONDO:0018473;Lipoprotein glomerulopathy OMIM:611771;lipoprotein glomerulopathy MONDO:0012725						False	3	100;0;0	3.4	False		ENSG00000130203	ENSG00000130203	HGNC:613													
CREB3L3	gene	CREB3L3	Expert Review Green;NHS GMS;South West GLH	Familial chylomicronaemia syndrome (FCS)		Lipids	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Hypertriglyceridemia 2, OMIM:619324;Hypertriglyceridemia (disease) MONDO:0005347				29954705;21666694;26427795;22135386		False	3	100;0;0	3.4	False		ENSG00000060566	ENSG00000060566	HGNC:18855													
GPD1	gene	GPD1	Expert Review Green;NHS GMS;South West GLH	Familial chylomicronaemia syndrome (FCS)		Lipids	BIALLELIC, autosomal or pseudoautosomal	Hypertriglyceridemia, transient infantile OMIM:614480;transient infantile hypertriglyceridemia and hepatosteatosis MONDO:0013771						False	3	100;0;0	3.4	False		ENSG00000167588	ENSG00000167588	HGNC:4455													
GPIHBP1	gene	GPIHBP1	Expert Review Green;NHS GMS;South West GLH	Familial chylomicronaemia syndrome (FCS)		Lipids	BIALLELIC, autosomal or pseudoautosomal	Hyperlipoproteinemia, type 1D OMIM:615947;hyperlipoproteinemia, type 1D MONDO:0014412						False	3	100;0;0	3.4	False		ENSG00000182851	ENSG00000277494	HGNC:24945													
LMF1	gene	LMF1	Expert Review Green;NHS GMS;South West GLH	Familial chylomicronaemia syndrome (FCS)		Lipids	BIALLELIC, autosomal or pseudoautosomal	Lipase deficiency, combined OMIM:246650;lipase deficiency, combined MONDO:0009527				17994020;19820022;30885219;30420299;29910226;22239554		False	3	100;0;0	3.4	False		ENSG00000103227	ENSG00000103227	HGNC:14154													
LPL	gene	LPL	Expert Review Green;NHS GMS;South West GLH	Familial chylomicronaemia syndrome (FCS)		Lipids	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Lipoprotein lipase deficiency OMIM:238600;familial lipoprotein lipase deficiency MONDO:0009387;Combined hyperlipidemia, familial OMIM:144250;hyperlipidemia, familial combined, LPL related MONDO:0007759						False	3	100;0;0	3.4	False		ENSG00000175445	ENSG00000175445	HGNC:6677