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
ALG8	gene	ALG8	Expert list	Primary lymphoedema		Cardiology	BIALLELIC, autosomal or pseudoautosomal					12480927;15235028		False	1	0;0;100	4.23	False		ENSG00000159063	ENSG00000159063	HGNC:23161													
ALX3	gene	ALX3	Expert Review Red;Radboud University Medical Center, Nijmegen;UKGTN	Primary lymphoedema		Cardiology	BIALLELIC, autosomal or pseudoautosomal	 Frontonasal dysplasia 1 136760				15127764		False	1	0;0;100	4.23	False		ENSG00000156150	ENSG00000156150	HGNC:449													
AQP1	gene	AQP1	Expert Review Red;Literature	Primary lymphoedema		Cardiology	Unknown	Aquaporin-1 deficiency;[Blood group, Colton] 110450				11463012		False	1	0;0;100	4.23	False		ENSG00000240583	ENSG00000240583	HGNC:633													
CCDC88A	gene	CCDC88A	Expert Review Red;Literature	Primary lymphoedema		Cardiology	BIALLELIC, autosomal or pseudoautosomal	?PEHO syndrome-like, 617507				26917597		False	1	0;0;100	4.23	False		ENSG00000115355	ENSG00000115355	HGNC:25523													
CDC42	gene	CDC42	Expert Review Red;Literature	Primary lymphoedema		Cardiology	Unknown	Takenouchi-Kosaki syndrome 616737				26708094		False	1	0;0;100	4.23	False		ENSG00000070831	ENSG00000070831	HGNC:1736													
CHD7	gene	CHD7	Expert list;Expert Review Red	Primary lymphoedema		Cardiology	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	CHARGE syndrome 214800				15300250;16400610;16155193		False	1	33;0;67	4.23	False		ENSG00000171316	ENSG00000171316	HGNC:20626													
FBXL7	gene	FBXL7	Expert Review Red;Literature	Primary lymphoedema		Cardiology	BIALLELIC, autosomal or pseudoautosomal	Hennekam syndrome;lymphoedema				31633297		False	1	0;0;100	4.23	False		ENSG00000183580	ENSG00000183580	HGNC:13604													
MET	gene	MET	Expert list	Primary lymphoedema		Cardiology	BOTH monoallelic and biallelic, autosomal or pseudoautosomal					18564920		False	1	0;0;100	4.23	False		ENSG00000105976	ENSG00000105976	HGNC:7029													
MPI	gene	MPI	Expert list	Primary lymphoedema		Cardiology	BIALLELIC, autosomal or pseudoautosomal	Congenital disorder of glycosylation, type Ib, OMIM:602579;MPI-CDG, MONDO:0011257						False	1	0;0;100	4.23	False		ENSG00000178802	ENSG00000178802	HGNC:7216													
TTR	gene	TTR	Emory Genetics Laboratory;Expert Review Red;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN	Primary lymphoedema		Cardiology	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	"Amyloidosis, hereditary, transthyretin-related 105210;Carpal tunnel syndrome, familial	115430;Dystransthyretinemic hyperthyroxinemia 145680"				30878017;31131842;31118583;31111153;30120737		False	1	0;0;100	4.23	False		ENSG00000118271	ENSG00000118271	HGNC:12405													
ZNHIT3	gene	ZNHIT3	Expert Review Red;Other	Primary lymphoedema		Cardiology	BIALLELIC, autosomal or pseudoautosomal	PEHO syndrome, 260565				28335020		False	1	0;0;0	4.23	False		ENSG00000108278	ENSG00000273611	HGNC:12309