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
ANGPT2	gene	ANGPT2	Expert Review Amber;Literature	Primary lymphoedema		Cardiology	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Lymphatic malformation 10 OMIM:619369;lymphatic malformation 10 MONDO:0023662				32908006;34876502		False	2	50;50;0	4.23	False		ENSG00000091879	ENSG00000091879	HGNC:485													
ARAP3	gene	ARAP3	Expert Review Amber;Literature	Primary lymphoedema		Cardiology	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Lymphoedema, MONDO:0019297				32908855		False	2	0;100;0	4.23	False		ENSG00000120318	ENSG00000120318	HGNC:24097													
DCHS1	gene	DCHS1	Expert Review Amber;London South GLH;UKGTN	Primary lymphoedema		Cardiology	BIALLELIC, autosomal or pseudoautosomal	Van Maldergem syndrome 1, OMIM:601390				24056717		False	2	0;100;0	4.23	True		ENSG00000166341	ENSG00000166341	HGNC:13681													
HGF	gene	HGF	Expert list;Expert Review Amber	Primary lymphoedema		Cardiology	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	primary lymphedema, MONDO:0019175				18564920;38676400;38791500		False	2	67;0;33	4.23	False		ENSG00000019991	ENSG00000019991	HGNC:4893													
MDFIC	gene	MDFIC	Expert Review Amber;Literature	Primary lymphoedema		Cardiology	BIALLELIC, autosomal or pseudoautosomal	Lymphatic malformation 12, OMIM:620014;lymphatic malformation 12, MONDO:0031043				35235341;39386015		False	2	100;0;0	4.23	False		ENSG00000135272	ENSG00000135272	HGNC:28870													
PLXNB2	gene	PLXNB2	Expert Review Amber;Literature	Primary lymphoedema		Cardiology	BIALLELIC, autosomal or pseudoautosomal	amelogenesis imperfecta, MONDO:0019507;sensorineural hearing loss disorder, MONDO:0020678;intellectual disability, MONDO:0001071				38458752:		False	2	0;100;0	4.23	False	Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments	ENSG00000196576	ENSG00000196576	HGNC:9104													
RORC	gene	RORC	Expert Review Amber;Literature	Primary lymphoedema		Cardiology	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Lymphoedema, MONDO:0019297				32960152		False	2	0;100;0	4.23	False		ENSG00000143365	ENSG00000143365	HGNC:10260													
UNC45A	gene	UNC45A	Expert Review;Expert Review Amber	Primary lymphoedema		Cardiology	BIALLELIC, autosomal or pseudoautosomal	Aagenaes syndrome, MONDO:0008966				37328071;39887522		False	2	100;0;0	4.23	False		ENSG00000140553	ENSG00000140553	HGNC:30594