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