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 list;Expert Review Green;London South GLH;Other;UKGTN Primary lymphoedema Cardiology BIALLELIC, autosomal or pseudoautosomal Hennekam lymphangiectasia-lymphedema syndrome 3, OMIM:618154;Hennekam lymphangiectasia-lymphedema syndrome 3, MONDO:0032564 28985353;28687807;26446156;30450763 False 3 50;50;0 4.23 False ENSG00000156140 ENSG00000156140 HGNC:219 BRAF gene BRAF Expert Review;Expert Review Green Primary lymphoedema Cardiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown LEOPARD syndrome 3 613707;Noonan syndrome 7 613706;Cardiofaciocutaneous syndrome 115150 19206169;21396583 False 3 100;0;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 ENSG00000157764 ENSG00000157764 HGNC:1097 CBL gene CBL Expert Review;Expert Review Green Primary lymphoedema Cardiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia 613563 20619386;20543203;19571318 False 3 100;0;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 ENSG00000110395 ENSG00000110395 HGNC:1541 CCBE1 gene CCBE1 Expert Review Green;Illumina TruGenome Clinical Sequencing Services;London South GLH;Radboud University Medical Center, Nijmegen;UKGTN Primary lymphoedema Cardiology BIALLELIC, autosomal or pseudoautosomal Hennekam lymphangiectasia-lymphedema syndrome 1, OMIM:235510 False 3 50;50;0 4.23 False ENSG00000183287 ENSG00000183287 HGNC:29426 CELSR1 gene CELSR1 Expert list;Expert Review Green Primary lymphoedema Cardiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Lymphatic malformation 9, OMIM:619319 26855770;31215153;31403174;37225411 False 3 100;0;0 4.23 False ENSG00000075275 ENSG00000075275 HGNC:1850 EPHB4 gene EPHB4 Expert list;Expert Review Green;Literature;London South GLH Primary lymphoedema Cardiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Lymphatic malformation 7, OMIM:617300 27400125;29905864 False 3 67;33;0 4.23 False ENSG00000196411 ENSG00000196411 HGNC:3395 ERG gene ERG Expert Review Green;NHS GMS;Research Primary lymphoedema Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Lymphatic malformation 14, OMIM:620602;lymphatic malformation 14, MONDO:0957954 36928819;38991192 False 3 100;0;0 4.23 False ENSG00000157554 ENSG00000157554 HGNC:3446 FAT4 gene FAT4 Expert Review Green;London South GLH;Radboud University Medical Center, Nijmegen Primary lymphoedema Cardiology BIALLELIC, autosomal or pseudoautosomal Hennekam lymphangiectasia-lymphedema syndrome 2, 616006; Van Maldergem syndrome 2, 615546 24913602 False 3 50;50;0 4.23 False ENSG00000196159 ENSG00000196159 HGNC:23109 FLT4 gene FLT4 Eligibility statement prior genetic testing;Expert Review Green;London South GLH;Radboud University Medical Center, Nijmegen;UKGTN Primary lymphoedema Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Lymphedema, hereditary, IA 153100 23074044 False 3 50;50;0 4.23 False ENSG00000037280 ENSG00000037280 HGNC:3767 FOXC2 gene FOXC2 Eligibility statement prior genetic testing;Expert Review Green;London South GLH;Radboud University Medical Center, Nijmegen;UKGTN Primary lymphoedema Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Lymphedema-distichiasis syndrome, 153400;Lymphedema-distichiasis syndrome with renal disease and diabetes mellitus, 153400 11078474 False 3 50;50;0 4.23 False ENSG00000176692 ENSG00000176692 HGNC:3801 GATA2 gene GATA2 Expert Review Green;Illumina TruGenome Clinical Sequencing Services;London South GLH;UKGTN Primary lymphoedema Cardiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown "Emberger Syndrome 614038;{Myelodysplastic syndrome, susceptibility to} 614286" 21892158 False 3 50;50;0 4.23 False ENSG00000179348 ENSG00000179348 HGNC:4171 GJA1 gene GJA1 Expert list;Expert Review Green;London South GLH Primary lymphoedema Cardiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Oculodentodigital dysplasia, OMIM:164200 23550541;29624507 False 3 50;50;0 4.23 False ENSG00000152661 ENSG00000152661 HGNC:4274 GJC2 gene GJC2 Expert Review Green;London South GLH;Radboud University Medical Center, Nijmegen Primary lymphoedema Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Lymphedema, hereditary, IC, 613480 False 3 50;50;0 4.23 False ENSG00000198835 ENSG00000198835 HGNC:17494 HRAS gene HRAS Expert Review;Expert Review Green Primary lymphoedema Cardiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Costello syndrome 218040 16170316;16969868;16443854;21396583 False 3 100;0;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 ENSG00000174775 ENSG00000174775 HGNC:5173 IKBKG gene IKBKG Expert list;Expert Review Green;Radboud University Medical Center, Nijmegen;UKGTN Primary lymphoedema Cardiology X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Ectodermal dysplasia and immunodeficiency 1, OMIM:300291 11242109 False 3 50;50;0 4.23 False ENSG00000073009 ENSG00000269335 HGNC:5961 KIF11 gene KIF11 Expert Review Green;London South GLH;Radboud University Medical Center, Nijmegen Primary lymphoedema Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation, MCLMR 152950 22284827 False 3 50;50;0 4.23 False ENSG00000138160 ENSG00000138160 HGNC:6388 KRAS gene KRAS Expert Review;Expert Review Green Primary lymphoedema Cardiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Noonan syndrome 3 609942;Cardiofaciocutaneous syndrome 2 615278 21396583 False 3 100;0;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 ENSG00000133703 ENSG00000133703 HGNC:6407 LZTR1 gene LZTR1 Expert Review;Expert Review Green Primary lymphoedema Cardiology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Schwannomatosis-2, susceptibility to 615670;Noonan syndrome 10 616564 25795793;29469822 False 3 100;0;0 4.23 False ENSG00000099949 ENSG00000099949 HGNC:6742 MAP2K1 gene MAP2K1 Expert Review;Expert Review Green Primary lymphoedema Cardiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Cardiofaciocutaneous syndrome 3 615279 21396583;23321623 False 3 100;0;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 ENSG00000169032 ENSG00000169032 HGNC:6840 MAP2K2 gene MAP2K2 Expert Review;Expert Review Green Primary lymphoedema Cardiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Cardiofaciocutaneous syndrome 4 615280 21396583;23379592 False 3 100;0;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 ENSG00000126934 ENSG00000126934 HGNC:6842 NF1 gene NF1 Expert Review;Expert Review Green Primary lymphoedema Cardiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Neurofibromatosis-Noonan syndrome 601321;Neurofibromatosis, type 1 162200 16380919;19845691;12707950 False 3 100;0;0 4.23 False ENSG00000196712 ENSG00000196712 HGNC:7765 NRAS gene NRAS Expert Review;Expert Review Green Primary lymphoedema Cardiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Noonan syndrome 6 613224 19966803;19775298 False 3 100;0;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 ENSG00000213281 ENSG00000213281 HGNC:7989 NSD1 gene NSD1 Expert list;Expert Review Green Primary lymphoedema Cardiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Sotos syndrome 1 117550 9781911;26738611 False 3 0;0;100 4.23 False ENSG00000165671 ENSG00000165671 HGNC:14234 PIEZO1 gene PIEZO1 Expert list;Expert Review Green;London South GLH Primary lymphoedema Cardiology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Lymphatic malformation 6, OMIM:616843 26333996;26387913 False 3 67;33;0 4.23 False ENSG00000103335 ENSG00000103335 HGNC:28993 PMM2 gene PMM2 Expert list;Expert Review Green Primary lymphoedema Cardiology BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type Ia 212065 17158594;9762608;15645285;20638314 False 3 100;0;0 4.23 False ENSG00000140650 ENSG00000140650 HGNC:9115 PPP1CB gene PPP1CB Expert Review;Expert Review Green Primary lymphoedema Cardiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Noonan syndrome-like disorder with loose anagen hair 2 617506 27264673;28211982;27681385 False 3 100;0;0 4.23 False ENSG00000213639 ENSG00000213639 HGNC:9282 PTPN11 gene PTPN11 Expert Review;Expert Review Green Primary lymphoedema Cardiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Noonan syndrome 1 163950;LEOPARD syndrome 1 151100 17603483;11704759;12529711;12634870;15384080;15240615;16263833;17497712;18678287 False 3 100;0;0 4.23 False Other - please provide details in the comments ENSG00000179295 ENSG00000179295 HGNC:9644 PTPN14 gene PTPN14 Expert Review Green;London South GLH;Radboud University Medical Center, Nijmegen;UKGTN Primary lymphoedema Cardiology BIALLELIC, autosomal or pseudoautosomal Choanal atresia and lymphedema, 613611 20826270;24167460 False 3 50;50;0 4.23 False ENSG00000152104 ENSG00000152104 HGNC:9647 RAF1 gene RAF1 Expert Review;Expert Review Green Primary lymphoedema Cardiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Noonan syndrome 5 611553;LEOPARD syndrome 2 611554 17603483;17603482 False 3 100;0;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 ENSG00000132155 ENSG00000132155 HGNC:9829 RASA1 gene RASA1 Expert list;Expert Review Green Primary lymphoedema Cardiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Capillary malformation-arteriovenous malformation 1 608354 26969842;23650393;22342634 False 3 0;0;100 4.23 False ENSG00000145715 ENSG00000145715 HGNC:9871 RIT1 gene RIT1 Expert Review;Expert Review Green Primary lymphoedema Cardiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Noonan syndrome 8 615355 23791108;25124994;24939608 False 3 100;0;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 ENSG00000143622 ENSG00000143622 HGNC:10023 SHANK3 gene SHANK3 Expert list;Expert Review Green Primary lymphoedema Cardiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phelan-McDermid syndrome 606232 False 3 100;0;0 4.23 False ENSG00000251322 ENSG00000251322 HGNC:14294 SHOC2 gene SHOC2 Expert Review;Expert Review Green Primary lymphoedema Cardiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Noonan-like syndrome with loose anagen hair 607721 19684605;22528146;23918763 False 3 100;0;0 4.23 False ENSG00000108061 ENSG00000108061 HGNC:15454 SOS1 gene SOS1 Expert Review;Expert Review Green Primary lymphoedema Cardiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Noonan syndrome 4 610733 19438935;17143285;17143282;17586837 False 3 100;0;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 ENSG00000115904 ENSG00000115904 HGNC:11187 SOS2 gene SOS2 Expert Review;Expert Review Green Primary lymphoedema Cardiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Noonan syndrome 9 616559 25795793;26173643 False 3 100;0;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 ENSG00000100485 ENSG00000100485 HGNC:11188 SOX18 gene SOX18 Expert Review Green;London South GLH;Radboud University Medical Center, Nijmegen Primary lymphoedema Cardiology BOTH monoallelic and biallelic, autosomal or pseudoautosomal "Hypotrichosis-lymphedema-telangiectasia syndrome, 607823;Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome 137940" 26148450;12740761 False 3 67;33;0 4.23 False ENSG00000203883 ENSG00000203883 HGNC:11194 SPRED1 gene SPRED1 Expert Review;Expert Review Green Primary lymphoedema Cardiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Legius syndrome 611431 17704776;19366998;19443465;21649642;21548021 False 3 100;0;0 4.23 False ENSG00000166068 ENSG00000166068 HGNC:20249 TIE1 gene TIE1 Expert Review Green;Literature;NHS GMS Primary lymphoedema Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Lymphatic malformation 11, OMIM:619401 32947856;24764452;38820174 False 3 67;33;0 4.23 False ENSG00000066056 ENSG00000066056 HGNC:11809 TSC1 gene TSC1 Expert list;Expert Review Green Primary lymphoedema Cardiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Focal cortical dysplasia, type II, somatic 607341;Lymphangioleiomyomatosis 606690;Tuberous sclerosis-1 191100 False 3 0;0;100 4.23 False ENSG00000165699 ENSG00000165699 HGNC:12362 TSC2 gene TSC2 Expert list;Expert Review Green Primary lymphoedema Cardiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown ?Focal cortical dysplasia, type II, somatic 607341;Lymphangioleiomyomatosis, somatic 606690;Tuberous sclerosis-2 613254 False 3 0;0;100 4.23 False ENSG00000103197 ENSG00000103197 HGNC:12363 VEGFC gene VEGFC Expert list;Expert Review Green;London South GLH Primary lymphoedema Cardiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown "Lymphedema, hereditary, ID 615907 (Primary Lymphoedema, Milroy-like)" 23410910;24744435;14634646;30071673 False 3 67;33;0 4.23 False ENSG00000150630 ENSG00000150630 HGNC:12682 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 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