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 ADAMTS3 gene ADAMTS3 Expert Review;Expert Review Green Lymphoedema Lymphatic Disorders Cardiovascular disorders BIALLELIC, autosomal or pseudoautosomal Hennekam lymphangiectasia-lymphedema syndrome 3 (618154) Lymphedema;HP:0001004 28985353;30450763 False 3 100;0;0 0.32 True ENSG00000156140 ENSG00000156140 HGNC:219 ANGPT2 gene ANGPT2 Expert Review Green;Literature Lymphoedema Lymphatic Disorders Cardiovascular disorders BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Lymphatic malformation-10, MIM#619369;Primary lymphoedema;Hydrops Lymphedema;HP:0001004 32908006;34876502 False 3 100;0;0 0.32 False ENSG00000091879 ENSG00000091879 HGNC:485 BRAF gene BRAF Expert Review;Expert Review Green Lymphoedema Lymphatic Disorders Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Cardiofaciocutaneous syndrome 115150;Noonan syndrome 7 613706;LEOPARD syndrome 3 613707 Lymphedema;HP:0001004 21396583;19206169 False 3 0;0;0 0.32 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments ENSG00000157764 ENSG00000157764 HGNC:1097 CBL gene CBL Expert Review;Expert Review Green Lymphoedema Lymphatic Disorders Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia 613563 Lymphedema;HP:0001004 19571318;20619386;20543203 False 3 0;0;0 0.32 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments ENSG00000110395 ENSG00000110395 HGNC:1541 CCBE1 gene CCBE1 Expert Review Green;Illumina TruGenome Clinical Sequencing Services;London South GLH;Radboud University Medical Center, Nijmegen;UKGTN Lymphoedema Lymphatic Disorders Cardiovascular disorders BIALLELIC, autosomal or pseudoautosomal Hennekam Lymphangiectasia-Lymphedema Syndrome;Hennekam lymphangiectasia-lymphedema syndrome, 235510 Lymphedema;HP:0001004 False 3 0;0;0 0.32 False ENSG00000183287 ENSG00000183287 HGNC:29426 CELSR1 gene CELSR1 Expert Review Green;Literature Lymphoedema Lymphatic Disorders Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Lymphatic malformation 9, MIM# 619319 Lymphedema;HP:0001004 31215153;31403174;26855770 False 3 100;0;0 0.32 False ENSG00000075275 ENSG00000075275 HGNC:1850 EPHB4 gene EPHB4 Expert Review Green;Literature Lymphoedema Lymphatic Disorders Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted EPHB4-associated vascular malformation spectrum MONDO:0700080 Lymphedema;HP:0001004 34040196;34231312;27400125;29905864 False 3 100;0;0 0.32 False ENSG00000196411 ENSG00000196411 HGNC:3395 ERG gene ERG Expert Review Green;Literature Lymphoedema Lymphatic Disorders Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Lymphatic malformation 14, MIM# 620602" Lymphedema;HP:0001004 36928819 False 3 100;0;0 0.32 False ENSG00000157554 ENSG00000157554 HGNC:3446 FAT4 gene FAT4 Expert Review Green;London South GLH;Radboud University Medical Center, Nijmegen Lymphoedema Lymphatic Disorders Cardiovascular disorders BIALLELIC, autosomal or pseudoautosomal Hennekam lymphangiectasia-lymphedema syndrome 2, 616006;Van Maldergem syndrome 2, 615546 Lymphedema;HP:0001004 24913602 False 3 0;0;0 0.32 False ENSG00000196159 ENSG00000196159 HGNC:23109 FLT4 gene FLT4 Expert Review Green;Literature;Victorian Clinical Genetics Services Lymphoedema Lymphatic Disorders Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Lymphedema;HP:0001004 False 3 100;0;0 0.32 True ENSG00000037280 ENSG00000037280 HGNC:3767 FOXC2 gene FOXC2 Eligibility statement prior genetic testing;Expert Review Green;London South GLH;Radboud University Medical Center, Nijmegen;UKGTN Lymphoedema Lymphatic Disorders Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Lymphedema-distichiasis syndrome, 153400;Lymphedema-distichiasis syndrome with renal disease and diabetes mellitus, 153400 Lymphedema;HP:0001004 11078474 False 3 0;0;0 0.32 False ENSG00000176692 ENSG00000176692 HGNC:3801 GATA2 gene GATA2 Expert Review Green;Illumina TruGenome Clinical Sequencing Services;London South GLH;UKGTN Lymphoedema Lymphatic Disorders Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown "{Myelodysplastic syndrome, susceptibility to} 614286;Emberger Syndrome 614038" Lymphedema;HP:0001004 21892158 False 3 0;0;0 0.32 False ENSG00000179348 ENSG00000179348 HGNC:4171 GJA1 gene GJA1 Expert list;Expert Review Green;London South GLH Lymphoedema Lymphatic Disorders Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Oculodentodigital dysplasia 164200 Lymphedema;HP:0001004 23550541 False 3 0;0;0 0.32 False ENSG00000152661 ENSG00000152661 HGNC:4274 GJC2 gene GJC2 Expert Review Green;London South GLH;Radboud University Medical Center, Nijmegen Lymphoedema Lymphatic Disorders Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Lymphedema, hereditary, IC, 613480 Lymphedema;HP:0001004 False 3 0;0;0 0.32 False ENSG00000198835 ENSG00000198835 HGNC:17494 HGF gene HGF Expert list;Expert Review Green;Literature Lymphoedema Lymphatic Disorders Cardiovascular disorders Unknown Lymphedema;HP:0001004 18564920 False 3 100;0;0 0.32 False ENSG00000019991 ENSG00000019991 HGNC:4893 HRAS gene HRAS Expert Review;Expert Review Green Lymphoedema Lymphatic Disorders Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Costello syndrome 218040 Lymphedema;HP:0001004 21396583;16969868;16443854;16170316 False 3 0;0;0 0.32 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments ENSG00000174775 ENSG00000174775 HGNC:5173 IKBKG gene IKBKG Expert list;Expert Review Green;Radboud University Medical Center, Nijmegen;UKGTN Lymphoedema Lymphatic Disorders Cardiovascular disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) "Ectodermal, dysplasia, anhidrotic, lymphedema and immunodeficiency 300301" Lymphedema;HP:0001004 11242109 False 3 0;0;0 0.32 False ENSG00000073009 ENSG00000269335 HGNC:5961 KIF11 gene KIF11 Expert Review Green;London South GLH;Radboud University Medical Center, Nijmegen Lymphoedema Lymphatic Disorders Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Microcephaly with or without chorioretinopathy, lymphoedema, or mental retardation, MIM# 152950;MONDO:0007918 Lymphedema;HP:0001004 22284827;25115524;25124931;27212378;32730767;31993640;25996076 False 3 100;0;0 0.32 True ENSG00000138160 ENSG00000138160 HGNC:6388 KRAS gene KRAS Expert Review;Expert Review Green Lymphoedema Lymphatic Disorders Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Cardiofaciocutaneous syndrome 2 615278;Noonan syndrome 3 609942 Lymphedema;HP:0001004 21396583 False 3 0;0;0 0.32 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments ENSG00000133703 ENSG00000133703 HGNC:6407 LZTR1 gene LZTR1 Expert Review;Expert Review Green Lymphoedema Lymphatic Disorders Cardiovascular disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Schwannomatosis-2, susceptibility to 615670;Noonan syndrome 10 616564 Lymphedema;HP:0001004 25795793;29469822 False 3 0;0;0 0.32 False ENSG00000099949 ENSG00000099949 HGNC:6742 MAP2K1 gene MAP2K1 Expert Review;Expert Review Green Lymphoedema Lymphatic Disorders Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Cardiofaciocutaneous syndrome 3 615279 Lymphedema;HP:0001004 21396583;23321623 False 3 0;0;0 0.32 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments ENSG00000169032 ENSG00000169032 HGNC:6840 MAP2K2 gene MAP2K2 Expert Review;Expert Review Green Lymphoedema Lymphatic Disorders Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Cardiofaciocutaneous syndrome 4 615280 Lymphedema;HP:0001004 21396583;23379592 False 3 0;0;0 0.32 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments ENSG00000126934 ENSG00000126934 HGNC:6842 MDFIC gene MDFIC Expert Review Green;Literature Lymphoedema Lymphatic Disorders Cardiovascular disorders BIALLELIC, autosomal or pseudoautosomal Lymphatic malformation 12 - MIM#620014 Lymphedema;HP:0001004 PMID: 35235341 False 3 100;0;0 0.32 False ENSG00000135272 ENSG00000135272 HGNC:28870 NF1 gene NF1 Expert Review;Expert Review Green Lymphoedema Lymphatic Disorders Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Neurofibromatosis, type 1 162200;Neurofibromatosis-Noonan syndrome 601321 Lymphedema;HP:0001004 19845691;16380919;12707950 False 3 0;0;0 0.32 False ENSG00000196712 ENSG00000196712 HGNC:7765 NRAS gene NRAS Expert Review;Expert Review Green Lymphoedema Lymphatic Disorders Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Noonan syndrome 6 613224 Lymphedema;HP:0001004 19775298;19966803 False 3 0;0;0 0.32 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments ENSG00000213281 ENSG00000213281 HGNC:7989 NSD1 gene NSD1 Expert list;Expert Review Green Lymphoedema Lymphatic Disorders Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Sotos syndrome 1 117550 Lymphedema;HP:0001004 26738611;9781911 False 3 0;0;0 0.32 False ENSG00000165671 ENSG00000165671 HGNC:14234 PIEZO1 gene PIEZO1 Expert list;Expert Review Green;London South GLH Lymphoedema Lymphatic Disorders Cardiovascular disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema 194380;Lymphatic malformation 6 616843 Lymphedema;HP:0001004 26333996;26387913 False 3 0;0;0 0.32 False ENSG00000103335 ENSG00000103335 HGNC:28993 PMM2 gene PMM2 Expert list;Expert Review Green Lymphoedema Lymphatic Disorders Cardiovascular disorders BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type Ia 212065 Lymphedema;HP:0001004 9762608;15645285;20638314;17158594 False 3 0;0;0 0.32 False ENSG00000140650 ENSG00000140650 HGNC:9115 PPP1CB gene PPP1CB Expert Review;Expert Review Green Lymphoedema Lymphatic Disorders Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Noonan syndrome-like disorder with loose anagen hair 2 617506 Lymphedema;HP:0001004 27264673;27681385;28211982 False 3 0;0;0 0.32 False ENSG00000213639 ENSG00000213639 HGNC:9282 PTPN11 gene PTPN11 Expert Review;Expert Review Green Lymphoedema Lymphatic Disorders Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Noonan syndrome 1 163950;LEOPARD syndrome 1 151100 Lymphedema;HP:0001004 17497712;12634870;15384080;17603483;12529711;15240615;18678287;16263833;11704759 False 3 0;0;0 0.32 False Other - please provide details in the comments ENSG00000179295 ENSG00000179295 HGNC:9644 PTPN14 gene PTPN14 Expert list;Expert Review Green;London South GLH;Radboud University Medical Center, Nijmegen;UKGTN Lymphoedema Lymphatic Disorders Cardiovascular disorders BIALLELIC, autosomal or pseudoautosomal Choanal atresia and lymphedema, 613611 Lymphedema;HP:0001004 24167460;20826270 False 3 100;0;0 0.32 False ENSG00000152104 ENSG00000152104 HGNC:9647 RAF1 gene RAF1 Expert Review;Expert Review Green Lymphoedema Lymphatic Disorders Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Noonan syndrome 5 611553;LEOPARD syndrome 2 611554 Lymphedema;HP:0001004 17603483;17603482 False 3 0;0;0 0.32 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments ENSG00000132155 ENSG00000132155 HGNC:9829 RASA1 gene RASA1 Expert list;Expert Review Green Lymphoedema Lymphatic Disorders Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Capillary malformation-arteriovenous malformation 1 608354 Lymphedema;HP:0001004 26969842;22342634;23650393 False 3 0;0;0 0.32 False ENSG00000145715 ENSG00000145715 HGNC:9871 RIT1 gene RIT1 Expert Review;Expert Review Green Lymphoedema Lymphatic Disorders Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Noonan syndrome 8 615355 Lymphedema;HP:0001004 23791108;24939608;25124994 False 3 0;0;0 0.32 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments ENSG00000143622 ENSG00000143622 HGNC:10023 SHANK3 gene SHANK3 Expert list;Expert Review Green Lymphoedema Lymphatic Disorders Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phelan-McDermid syndrome, MIM# 606232;MONDO:0011652 Lymphedema;HP:0001004 31319798 False 3 100;0;0 0.32 True ENSG00000251322 ENSG00000251322 HGNC:14294 SHOC2 gene SHOC2 Expert Review;Expert Review Green Lymphoedema Lymphatic Disorders Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Noonan-like syndrome with loose anagen hair 607721 Lymphedema;HP:0001004 23918763;19684605;22528146 False 3 0;0;0 0.32 False ENSG00000108061 ENSG00000108061 HGNC:15454 SOS1 gene SOS1 Expert Review;Expert Review Green Lymphoedema Lymphatic Disorders Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Noonan syndrome 4 610733 Lymphedema;HP:0001004 19438935;17143285;17143282;17586837 False 3 0;0;0 0.32 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments ENSG00000115904 ENSG00000115904 HGNC:11187 SOS2 gene SOS2 Expert Review;Expert Review Green Lymphoedema Lymphatic Disorders Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Noonan syndrome 9 616559 Lymphedema;HP:0001004 25795793;26173643;32788663 False 3 100;0;0 0.32 True Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments ENSG00000100485 ENSG00000100485 HGNC:11188 SOX18 gene SOX18 Expert Review Green;London South GLH;Radboud University Medical Center, Nijmegen Lymphoedema Lymphatic Disorders Cardiovascular disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal "Hypotrichosis-lymphedema-telangiectasia syndrome, 607823;Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome 137940" Lymphedema;HP:0001004 26148450;12740761 False 3 0;0;0 0.32 False ENSG00000203883 ENSG00000203883 HGNC:11194 SPRED1 gene SPRED1 Expert Review;Expert Review Green Lymphoedema Lymphatic Disorders Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Legius syndrome 611431 Lymphedema;HP:0001004 19366998;17704776;19443465;21548021;21649642 False 3 0;0;0 0.32 False ENSG00000166068 ENSG00000166068 HGNC:20249 TIE1 gene TIE1 Expert Review Green;Literature Lymphoedema Lymphatic Disorders Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Lymphatic malformation 11, MIM# 619401" Lymphedema;HP:0001004 32947856;24764452;38820174 False 3 50;50;0 0.32 False ENSG00000066056 ENSG00000066056 HGNC:11809 TSC1 gene TSC1 Expert list;Expert Review Green Lymphoedema Lymphatic Disorders Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Tuberous sclerosis-1 191100;Lymphangioleiomyomatosis 606690;Focal cortical dysplasia, type II, somatic 607341 Lymphedema;HP:0001004 False 3 0;0;0 0.32 False ENSG00000165699 ENSG00000165699 HGNC:12362 TSC2 gene TSC2 Expert list;Expert Review Green Lymphoedema Lymphatic Disorders Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Lymphangioleiomyomatosis, somatic 606690;?Focal cortical dysplasia, type II, somatic 607341;Tuberous sclerosis-2 613254 Lymphedema;HP:0001004 False 3 0;0;0 0.32 False ENSG00000103197 ENSG00000103197 HGNC:12363 UNC45A gene UNC45A Expert Review Green;Victorian Clinical Genetics Services Lymphoedema Lymphatic Disorders Cardiovascular disorders BIALLELIC, autosomal or pseudoautosomal Osteootohepatoenteric syndrome, MIM# 619377;Cholestasis;Diarrhoea;Bone fragility;Impaired hearing Lymphedema;HP:0001004 29429573;35575086;36699472;37328071;39887522;40125554;40129845;32013205 False 3 100;0;0 0.32 True ENSG00000140553 ENSG00000140553 HGNC:30594 VEGFC gene VEGFC Expert list;Expert Review Green;London South GLH;Victorian Clinical Genetics Services Lymphoedema Lymphatic Disorders Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown "Lymphedema, hereditary, ID 615907 (Primary Lymphoedema, Milroy-like)" Lymphedema;HP:0001004 30071673;24744435;23410910;14634646 False 3 100;0;0 0.32 False ENSG00000150630 ENSG00000150630 HGNC:12682