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
CCBE1	gene	CCBE1	Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN	Meiges disease	Lymphatic disorders	Cardiovascular disorders	BIALLELIC, autosomal or pseudoautosomal	Hennekam lymphangiectasia-lymphedema syndrome, 235510;Hennekam Lymphangiectasia-Lymphedema Syndrome						False	3	100;0;0	1.20	False		ENSG00000183287	ENSG00000183287	HGNC:29426													
FAT4	gene	FAT4	Expert Review Green;Radboud University Medical Center, Nijmegen	Meiges disease	Lymphatic disorders	Cardiovascular disorders	BIALLELIC, autosomal or pseudoautosomal	Hennekam lymphangiectasia-lymphedema syndrome 2, 616006; Van Maldergem syndrome 2, 615546				24913602		False	3	100;0;0	1.20	False		ENSG00000196159	ENSG00000196159	HGNC:23109													
FLT4	gene	FLT4	Expert Review Green;Radboud University Medical Center, Nijmegen;UKGTN	Meiges disease	Lymphatic disorders	Cardiovascular disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Lymphedema, hereditary, IA 153100				23074044		False	3	100;0;0	1.20	False		ENSG00000037280	ENSG00000037280	HGNC:3767													
FOXC2	gene	FOXC2	Expert Review Green;Radboud University Medical Center, Nijmegen;UKGTN	Meiges disease	Lymphatic disorders	Cardiovascular disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Lymphedema-distichiasis syndrome, 153400;Lymphedema-distichiasis syndrome with renal disease and diabetes mellitus, 153400				11078474		False	3	100;0;0	1.20	False		ENSG00000176692	ENSG00000176692	HGNC:3801													
GATA2	gene	GATA2	Expert Review Green;Illumina TruGenome Clinical Sequencing Services;UKGTN	Meiges disease	Lymphatic disorders	Cardiovascular disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Primary Lymphedema with Myelodysplasia;Immunodeficiency 21; Leukemia, Acute Myeloid; Lymphedema, Primary, With Myelodysplasia; Myelodysplastic Syndrome; GATA2 Deficiency;Primary Lymphedema with Myelodysplasia, Emberger syndrome 614038;Immunodeficiency 21 614172; Leukemia, Acute Myeloid susceptibility to 601626; Myelodysplastic Syndrome usceptibility to 614286						False	3	100;0;0	1.20	False		ENSG00000179348	ENSG00000179348	HGNC:4171													
GJA1	gene	GJA1	Expert list;Expert Review Green	Meiges disease	Lymphatic disorders	Cardiovascular disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	 oculodentodigital syndrome with primary lymphoedem;Oculodentodigital dysplasia 164200				PMID: 23550541		False	3	100;0;0	1.20	False		ENSG00000152661	ENSG00000152661	HGNC:4274													
GJC2	gene	GJC2	Expert Review Green;Radboud University Medical Center, Nijmegen	Meiges disease	Lymphatic disorders	Cardiovascular disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Lymphedema, hereditary, IC, 613480						False	3	100;0;0	1.20	False		ENSG00000198835	ENSG00000198835	HGNC:17494													
IKBKG	gene	IKBKG	Expert Review Green;Radboud University Medical Center, Nijmegen;UKGTN	Meiges disease	Lymphatic disorders	Cardiovascular disorders	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Incontinentia pigmenti, type II, 308300; Ectodermal dysplasia, hypohidrotic, with immune deficiency, 300291; Ectodermal, dysplasia, anhidrotic, lymphedema and immunodeficiency, 300301; Immunodeficiency, isolated, 300584; {Atypical mycobacterio;Ectodermal dysplasia, anhidrotic with immunodeficiency, osteopetrosis and lymphedema;Ectodermal dysplasia, hypohidrotic, with immune deficiency   ;Immunodeficiency 33 300636;  Incontinentia pigmenti 308300				11242109		False	3	0;100;0	1.20	False		ENSG00000073009	ENSG00000269335	HGNC:5961													
KIF11	gene	KIF11	Expert Review Green;Radboud University Medical Center, Nijmegen	Meiges disease	Lymphatic disorders	Cardiovascular disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation, 152950				22284827		False	3	100;0;0	1.20	False		ENSG00000138160	ENSG00000138160	HGNC:6388													
PIEZO1	gene	PIEZO1	Expert list;Expert Review Green	Meiges disease	Lymphatic disorders	Cardiovascular disorders	BIALLELIC, autosomal or pseudoautosomal	Primary Lymphoedema, Generalised lymphatic dysplasia;Lymphedema, hereditary, III 616843				[PMID: 26333996; 26387913]		False	3	100;0;0	1.20	False		ENSG00000103335	ENSG00000103335	HGNC:28993													
SOX18	gene	SOX18	Expert Review Green;Radboud University Medical Center, Nijmegen	Meiges disease	Lymphatic disorders	Cardiovascular disorders	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	"Hypotrichosis-lymphedema-telangiectasia syndrome, 607823;Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome	137940"				12740761;26148450;26631803		False	3	100;0;0	1.20	False		ENSG00000203883	ENSG00000203883	HGNC:11194													
VEGFC	gene	VEGFC	Expert list;Expert Review Green	Meiges disease	Lymphatic disorders	Cardiovascular disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Primary Lymphoedema, Milroy-like; Lymphedema, hereditary, ID 615907				[PMID: 23410910; 24744435]		False	3	100;0;0	1.20	False		ENSG00000150630	ENSG00000150630	HGNC:12682													
EPHB4	gene	EPHB4	Expert list	Meiges disease	Lymphatic disorders	Cardiovascular disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Autosomal Dominant Lymphatic Related Hydrops Fetalis				PMID: 27400125		False	1	100;0;0	1.20	False		ENSG00000196411	ENSG00000196411	HGNC:3395													
PTPN14	gene	PTPN14	Expert Review Red;Radboud University Medical Center, Nijmegen	Meiges disease	Lymphatic disorders	Cardiovascular disorders	BIALLELIC, autosomal or pseudoautosomal	Choanal atresia and lymphedema, 613611				20826270		False	1	100;0;0	1.20	False		ENSG00000152104	ENSG00000152104	HGNC:9647