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 ACTB gene ACTB Expert Review Green;Genomics England PanelApp;NHS GMS Vascular Malformations SuperPanel Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Becker nevus, somatic mosaic, MIM# 604919 Abnormal vascular morphology HP:0025015 28347698 False 3 100;0;0 1.64 True ENSG00000075624 ENSG00000075624 HGNC:132 ACVRL1 gene ACVRL1 Expert Review Green;Expert Review Vascular Malformations SuperPanel Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Telangiectasia, hereditary hemorrhagic, type 2 (600376) Abnormal vascular morphology HP:0025015 21378382 False 3 100;0;0 1.64 True ENSG00000139567 ENSG00000139567 HGNC:175 ACVRL1 gene ACVRL1 Expert Review Green;Royal Melbourne Hospital Vascular Malformations SuperPanel Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted cerebral pulmonary arteriovenous malformation;pulmonary arteriovenous malformation;hepatic arteriovenous malformation;epistaxis;pulmonary arterial hypertension;Telangiectasia, hereditary hemorrhagic, type 2 600376;telangiectasia Abnormal vascular morphology HP:0025015 16542389 False 3 100;0;0 1.64 True ENSG00000139567 ENSG00000139567 HGNC:175 ADAMTS3 gene ADAMTS3 Expert Review Green;Expert Review Vascular Malformations SuperPanel Cardiovascular disorders BIALLELIC, autosomal or pseudoautosomal Hennekam lymphangiectasia-lymphedema syndrome 3 (618154) Abnormal vascular morphology HP:0025015 28985353, 30450763 False 3 100;0;0 1.64 True ENSG00000156140 ENSG00000156140 HGNC:219 ADAMTS3 gene ADAMTS3 Expert Review Green;Expert Review Vascular Malformations SuperPanel Cardiovascular disorders BIALLELIC, autosomal or pseudoautosomal Hennekam lymphangiectasia-lymphedema syndrome 3 (618154) Abnormal vascular morphology HP:0025015 28985353;30450763 False 3 100;0;0 1.64 True ENSG00000156140 ENSG00000156140 HGNC:219 AKT1 gene AKT1 Expert Review Green;Expert list;Expert list Vascular Malformations SuperPanel Cardiovascular disorders Other Cowden syndrome 6 615109;Proteus syndrome, somatic 176920 Abnormal vascular morphology HP:0025015 23246288 False 3 100;0;0 1.64 True Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000142208 ENSG00000142208 HGNC:391 AKT1 gene AKT1 Expert Review Green;Genomics England PanelApp;NHS GMS Vascular Malformations SuperPanel Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Proteus syndrome, somatic 176920" Abnormal vascular morphology HP:0025015 33030203;21793738 False 3 100;0;0 1.64 True ENSG00000142208 ENSG00000142208 HGNC:391 AKT3 gene AKT3 Expert Review Green;Expert Review Vascular Malformations SuperPanel Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 (615937) Abnormal vascular morphology HP:0025015 Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 False 3 100;0;0 1.64 True Other ENSG00000117020 ENSG00000117020 HGNC:393 AKT3 gene AKT3 Expert Review Green;Literature Vascular Malformations SuperPanel Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Megalencephaly syndromes Abnormal vascular morphology HP:0025015 22729224;28969385 False 3 100;0;0 1.64 True ENSG00000117020 ENSG00000117020 HGNC:393 AKT3 gene AKT3 Expert Review Green;Expert Review Vascular Malformations SuperPanel Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome (615937) Abnormal vascular morphology HP:0025015 23745724;22729224 False 3 100;0;0 1.64 True Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000117020 ENSG00000117020 HGNC:393 ANGPT2 gene ANGPT2 Expert Review Green;Literature Vascular Malformations SuperPanel 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 Abnormal vascular morphology HP:0025015 32908006;34876502 False 3 100;0;0 1.64 True ENSG00000091879 ENSG00000091879 HGNC:485 ATM gene ATM Expert Review Green;Expert list Vascular Malformations SuperPanel Cardiovascular disorders BIALLELIC, autosomal or pseudoautosomal "Ataxia-telangiectasia, MIM# 208900" Abnormal vascular morphology HP:0025015 False 3 100;0;0 1.64 True ENSG00000149311 ENSG00000149311 HGNC:795 ATP2A2 gene ATP2A2 Expert Review Green;Genomics England PanelApp;NHS GMS Vascular Malformations SuperPanel Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Darier disease, MIM# 124200 Abnormal vascular morphology HP:0025015 30085326;26154588;21720150;12890216 False 3 100;0;0 1.64 True ENSG00000174437 ENSG00000174437 HGNC:812 BRAF gene BRAF Expert Review Green;Expert list;Expert list Vascular Malformations SuperPanel Cardiovascular disorders Other Sporadic vascular malformations Abnormal vascular morphology HP:0025015 29316280;30544177;29461977 False 3 100;0;0 1.64 True 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 BRAF gene BRAF Expert Review Green;NHS GMS Vascular Malformations SuperPanel Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Melanocytic naevus syndrome (MONDO:0044792;MIM#137550) Abnormal vascular morphology HP:0025015 31111470 False 3 0;0;0 1.64 True 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 BRAF gene BRAF Expert Review Green;Expert Review Vascular Malformations SuperPanel Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Cardiofaciocutaneous syndrome 115150;Noonan syndrome 7 613706;LEOPARD syndrome 3 613707 Abnormal vascular morphology HP:0025015 21396583;19206169 False 3 0;0;0 1.64 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 Green;Expert Review Vascular Malformations SuperPanel Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia 613563 Abnormal vascular morphology HP:0025015 19571318;20619386;20543203 False 3 0;0;0 1.64 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 Victorian Clinical Genetics Services;Expert Review Green Vascular Malformations SuperPanel Cardiovascular disorders Unknown Abnormal vascular morphology HP:0025015 False 3 0;0;0 1.64 False ENSG00000183287 ENSG00000183287 HGNC:29426 CCBE1 gene CCBE1 London South GLH;Expert Review Green;UKGTN;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Vascular Malformations SuperPanel Cardiovascular disorders BIALLELIC, autosomal or pseudoautosomal Hennekam Lymphangiectasia-Lymphedema Syndrome;Hennekam lymphangiectasia-lymphedema syndrome, 235510 Abnormal vascular morphology HP:0025015 False 3 0;0;0 1.64 False ENSG00000183287 ENSG00000183287 HGNC:29426 CELSR1 gene CELSR1 Expert Review Green;Literature Vascular Malformations SuperPanel Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Lymphatic malformation 9, MIM# 619319 Abnormal vascular morphology HP:0025015 31215153;31403174;26855770 False 3 100;0;0 1.64 True ENSG00000075275 ENSG00000075275 HGNC:1850 ELMO2 gene ELMO2 Expert Review Green;Victorian Clinical Genetics Services;Royal Melbourne Hospital Vascular Malformations SuperPanel Cardiovascular disorders BIALLELIC, autosomal or pseudoautosomal Vascular malformation, primary intraosseous, MIM#606893 Abnormal vascular morphology HP:0025015 27476657 False 3 100;0;0 1.64 True ENSG00000062598 ENSG00000062598 HGNC:17233 ENG gene ENG Expert Review Green;Royal Melbourne Hospital Vascular Malformations SuperPanel Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Epistaxis (HP:0000421);Spinal arteriovenous malformation (HP:0002390);Tongue telangiectasia (HP:0000227);Telangiectasia, hereditary hemorrhagic, type 1, 187300;Cerebral arteriovenous malformation (HP:0002408);Palate telangiectasia (HP:0002707);Hepatic arteriovenous malformation (HP:0006574;Lip telangiectasia (HP:0000214);Arteriovenous malformation (HP:0100026);Nasal mucosa telangiectasia (HP:0000434);Pulmonary arteriovenous malformation (HP:0006548););Finger pad telangiectasia (pulp not nail side);Gastrointestinal telangiectasia (HP:0002604) Abnormal vascular morphology HP:0025015 16542389 False 3 100;0;0 1.64 True ENSG00000106991 ENSG00000106991 HGNC:3349 ENG gene ENG Expert Review Green;Expert Review Vascular Malformations SuperPanel Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Telangiectasia, hereditary hemorrhagic, type 2 (600376) Abnormal vascular morphology HP:0025015 21378382 False 3 100;0;0 1.64 True ENSG00000106991 ENSG00000106991 HGNC:3349 EPHB4 gene EPHB4 Victorian Clinical Genetics Services;Expert Review Green Vascular Malformations SuperPanel Cardiovascular disorders Unknown Abnormal vascular morphology HP:0025015 False 3 0;0;0 1.64 False ENSG00000196411 ENSG00000196411 HGNC:3395 EPHB4 gene EPHB4 Expert Review Green;Royal Melbourne Hospital Vascular Malformations SuperPanel Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Capillary malformation-arteriovenous malformation 2, MIM#618196 Abnormal vascular morphology HP:0025015 27400125;28687708;29444212;29905864;30578106;30819650 False 3 100;0;0 1.64 True ENSG00000196411 ENSG00000196411 HGNC:3395 ERG gene ERG Expert Review Green;Literature Vascular Malformations SuperPanel Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Lymphatic malformation 14, MIM# 620602" Abnormal vascular morphology HP:0025015 36928819 False 3 100;0;0 1.64 True ENSG00000157554 ENSG00000157554 HGNC:3446 FAT4 gene FAT4 Victorian Clinical Genetics Services;Expert Review Green Vascular Malformations SuperPanel Cardiovascular disorders Unknown Abnormal vascular morphology HP:0025015 False 3 0;0;0 1.64 False ENSG00000196159 ENSG00000196159 HGNC:23109 FAT4 gene FAT4 Expert Review Green;Radboud University Medical Center, Nijmegen;London South GLH Vascular Malformations SuperPanel Cardiovascular disorders BIALLELIC, autosomal or pseudoautosomal Hennekam lymphangiectasia-lymphedema syndrome 2, 616006;Van Maldergem syndrome 2, 615546 Abnormal vascular morphology HP:0025015 24913602 False 3 0;0;0 1.64 False ENSG00000196159 ENSG00000196159 HGNC:23109 FGFR1 gene FGFR1 Expert Review Green;Genomics England PanelApp;NHS GMS Vascular Malformations SuperPanel Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Epidermal naevi Abnormal vascular morphology HP:0025015 26942290 False 3 100;0;0 1.64 True ENSG00000077782 ENSG00000077782 HGNC:3688 FGFR2 gene FGFR2 Expert Review Green;Genomics England PanelApp;NHS GMS Vascular Malformations SuperPanel Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Keratinocytic epidermal naevi Abnormal vascular morphology HP:0025015 9728990;31937562;30580445 False 3 100;0;0 1.64 True ENSG00000066468 ENSG00000066468 HGNC:3689 FGFR3 gene FGFR3 Expert Review Green;Genomics England PanelApp;NHS GMS Vascular Malformations SuperPanel Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Epidermal naevi;Syringocystadenoma papilliferum Abnormal vascular morphology HP:0025015 22499344;16841094 False 3 100;0;0 1.64 True ENSG00000068078 ENSG00000068078 HGNC:3690 FLT4 gene FLT4 Victorian Clinical Genetics Services;Expert Review Green Vascular Malformations SuperPanel Cardiovascular disorders Unknown Abnormal vascular morphology HP:0025015 False 3 0;0;0 1.64 False ENSG00000037280 ENSG00000037280 HGNC:3767 FOXC2 gene FOXC2 Victorian Clinical Genetics Services;Expert Review Green Vascular Malformations SuperPanel Cardiovascular disorders Unknown Abnormal vascular morphology HP:0025015 False 3 0;0;0 1.64 False ENSG00000176692 ENSG00000176692 HGNC:3801 FOXC2 gene FOXC2 London South GLH;Expert Review Green;UKGTN;Eligibility statement prior genetic testing;Radboud University Medical Center, Nijmegen Vascular Malformations SuperPanel Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Lymphedema-distichiasis syndrome, 153400;Lymphedema-distichiasis syndrome with renal disease and diabetes mellitus, 153400 Abnormal vascular morphology HP:0025015 11078474 False 3 0;0;0 1.64 False ENSG00000176692 ENSG00000176692 HGNC:3801 GATA2 gene GATA2 Victorian Clinical Genetics Services;Expert Review Green Vascular Malformations SuperPanel Cardiovascular disorders Unknown Abnormal vascular morphology HP:0025015 False 3 0;0;0 1.64 False ENSG00000179348 ENSG00000179348 HGNC:4171 GATA2 gene GATA2 Expert Review Green;UKGTN;Illumina TruGenome Clinical Sequencing Services;London South GLH Vascular Malformations SuperPanel Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown "{Myelodysplastic syndrome, susceptibility to} 614286;Emberger Syndrome 614038" Abnormal vascular morphology HP:0025015 21892158 False 3 0;0;0 1.64 False ENSG00000179348 ENSG00000179348 HGNC:4171 GDF2 gene GDF2 Expert Review Green;Royal Melbourne Hospital Vascular Malformations SuperPanel Cardiovascular disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Telangiectasia, hereditary hemorrhagic, type 5 615506;pulmonary arteriovenous malformations Abnormal vascular morphology HP:0025015 23972370;27081547;32573726;32992168;34611981;33834622;32669404;26056270;23972370;https://doi.org/10.1164/ajrccm-conference.2020.201.1_MeetingAbstracts.A6356 False 3 50;0;50 1.64 True ENSG00000128802 ENSG00000263761 HGNC:4217 GJA1 gene GJA1 Victorian Clinical Genetics Services;Expert Review Green Vascular Malformations SuperPanel Cardiovascular disorders Unknown Abnormal vascular morphology HP:0025015 False 3 0;0;0 1.64 False ENSG00000152661 ENSG00000152661 HGNC:4274 GJA1 gene GJA1 Expert Review Green;London South GLH;Expert list Vascular Malformations SuperPanel Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Oculodentodigital dysplasia 164200 Abnormal vascular morphology HP:0025015 23550541 False 3 0;0;0 1.64 False ENSG00000152661 ENSG00000152661 HGNC:4274 GJA4 gene GJA4 Expert Review Green;Literature Vascular Malformations SuperPanel Cardiovascular disorders Other Cavernous hemangioma Abnormal vascular morphology HP:0025015 https://doi.org/10.1016/j.xhgg.2021.100028 False 3 100;0;0 1.64 False Other ENSG00000187513 ENSG00000187513 HGNC:4278 GJC2 gene GJC2 Victorian Clinical Genetics Services;Expert Review Green Vascular Malformations SuperPanel Cardiovascular disorders Unknown Abnormal vascular morphology HP:0025015 False 3 0;0;0 1.64 False ENSG00000198835 ENSG00000198835 HGNC:17494 GJC2 gene GJC2 Expert Review Green;Radboud University Medical Center, Nijmegen;London South GLH Vascular Malformations SuperPanel Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Lymphedema, hereditary, IC, 613480 Abnormal vascular morphology HP:0025015 False 3 0;0;0 1.64 False ENSG00000198835 ENSG00000198835 HGNC:17494 GLMN gene GLMN Expert Review Green;Expert Review Vascular Malformations SuperPanel Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Glomuvenous malformations (138000) Abnormal vascular morphology HP:0025015 11845407 False 3 100;0;0 1.64 True ENSG00000174842 ENSG00000174842 HGNC:14373 GLMN gene GLMN Expert Review Green;Royal Melbourne Hospital Vascular Malformations SuperPanel Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown "Glomuvenous malformations, MIM# 138000" Abnormal vascular morphology HP:0025015 23375657;30460983;24961656 False 3 100;0;0 1.64 True ENSG00000174842 ENSG00000174842 HGNC:14373 GNA11 gene GNA11 Expert Review Green;Expert list;Royal Melbourne Hospital Vascular Malformations SuperPanel Cardiovascular disorders Other Somatic hemangioma;Phacomatosis pigmentovascularis, somatic Abnormal vascular morphology HP:0025015 30677207 False 3 100;0;0 1.64 True Other ENSG00000088256 ENSG00000088256 HGNC:4379 GNA11 gene GNA11 Expert Review Green;Genomics England PanelApp;NHS GMS Vascular Malformations SuperPanel Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Extensive dermal melanocytosis;Phakomatosis pigmentovascularis Abnormal vascular morphology HP:0025015 26778290 False 3 100;0;0 1.64 True ENSG00000088256 ENSG00000088256 HGNC:4379 GNA14 gene GNA14 Expert Review Green;Genomics England PanelApp;NHS GMS Vascular Malformations SuperPanel Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Kaposiform endothelioma;Tufted angioma Abnormal vascular morphology HP:0025015 27476652 False 3 100;0;0 1.64 True ENSG00000156049 ENSG00000156049 HGNC:4382 GNA14 gene GNA14 Expert Review Green;Expert list;Expert list Vascular Malformations SuperPanel Cardiovascular disorders Other Tufted angioma;vascular tumours;Anastomosing hemangioma Abnormal vascular morphology HP:0025015 31423605;31707589;27476652 False 3 100;0;0 1.64 True Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000156049 ENSG00000156049 HGNC:4382 GNAQ gene GNAQ Expert Review Green;Genomics England PanelApp;NHS GMS Vascular Malformations SuperPanel Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Extensive dermal melanocytosis;Sturge Weber syndrome;Phakomatosis pigmentovascularis Abnormal vascular morphology HP:0025015 26778290 False 3 100;0;0 1.64 True ENSG00000156052 ENSG00000156052 HGNC:4390 GNAQ gene GNAQ Expert Review Green;Expert list;Expert list Vascular Malformations SuperPanel Cardiovascular disorders Other Sturge-Weber syndrome, somatic, mosaic 185300;Capillary malformations, congenital, 1, somatic, mosaic 163000;Phacomatosis pigmentovascularis Abnormal vascular morphology HP:0025015 30920161 False 3 100;0;0 1.64 True ENSG00000156052 ENSG00000156052 HGNC:4390 GNAS gene GNAS Expert Review Green;Genomics England PanelApp;NHS GMS Vascular Malformations SuperPanel Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown McCune-Albright syndrome Abnormal vascular morphology HP:0025015 12970318;15126527;10646121;1594625;1944469 False 3 100;0;0 1.64 True ENSG00000087460 ENSG00000087460 HGNC:4392 HGF gene HGF Expert Review Green;Literature Vascular Malformations SuperPanel Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Lymphoedema, MONDO:0019297, HGF-related Abnormal vascular morphology HP:0025015 38676400;38791500 False 3 100;0;0 1.64 True ENSG00000019991 ENSG00000019991 HGNC:4893 HRAS gene HRAS Expert Review Green;Expert list;Expert list Vascular Malformations SuperPanel Cardiovascular disorders Other Vascular malformation/overgrowth syndromes;Extracranial arteriovenous malformations Abnormal vascular morphology HP:0025015 31160609;31637524;30208313 False 3 100;0;0 1.64 True Other ENSG00000174775 ENSG00000174775 HGNC:5173 HRAS gene HRAS Expert Review Green;Expert Review Vascular Malformations SuperPanel Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Costello syndrome 218040 Abnormal vascular morphology HP:0025015 21396583;16969868;16443854;16170316 False 3 0;0;0 1.64 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 HRAS gene HRAS Expert Review Green;Genomics England PanelApp;NHS GMS Vascular Malformations SuperPanel Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phakomatosis pigmentokeratotica;Epidermal naevi;Woolly hair;Costello syndrome;Schimmelpenning syndrome Abnormal vascular morphology HP:0025015 22499344;22683711;24006476 False 3 100;0;0 1.64 True ENSG00000174775 ENSG00000174775 HGNC:5173 IDH1 gene IDH1 Expert Review Green;Genomics England PanelApp;NHS GMS Vascular Malformations SuperPanel Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Maffucci syndrome;Ollier disease Abnormal vascular morphology HP:0025015 22057234 False 3 100;0;0 1.64 True ENSG00000138413 ENSG00000138413 HGNC:5382 IDH2 gene IDH2 Expert Review Green;Genomics England PanelApp;NHS GMS Vascular Malformations SuperPanel Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Maffucci syndrome;Ollier disease Abnormal vascular morphology HP:0025015 22057234 False 3 100;0;0 1.64 True ENSG00000182054 ENSG00000182054 HGNC:5383 IKBKG gene IKBKG Victorian Clinical Genetics Services;Expert Review Green Vascular Malformations SuperPanel Cardiovascular disorders Unknown Abnormal vascular morphology HP:0025015 False 3 0;0;0 1.64 False ENSG00000073009 ENSG00000269335 HGNC:5961 IKBKG gene IKBKG Expert Review Green;Genomics England PanelApp;NHS GMS Vascular Malformations SuperPanel Cardiovascular disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Incontinentia pigmenti, 308300 Abnormal vascular morphology HP:0025015 32908217;29077987 False 3 100;0;0 1.64 True ENSG00000073009 ENSG00000269335 HGNC:5961 IKBKG gene IKBKG Expert Review Green;UKGTN;Radboud University Medical Center, Nijmegen;Expert list Vascular Malformations SuperPanel 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" Abnormal vascular morphology HP:0025015 11242109 False 3 0;0;0 1.64 False ENSG00000073009 ENSG00000269335 HGNC:5961 KIF11 gene KIF11 Expert Review Green;Radboud University Medical Center, Nijmegen;London South GLH Vascular Malformations SuperPanel Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Microcephaly with or without chorioretinopathy, lymphoedema, or mental retardation, MIM# 152950;MONDO:0007918 Abnormal vascular morphology HP:0025015 22284827;25115524;25124931;27212378;32730767;31993640;25996076 False 3 100;0;0 1.64 True ENSG00000138160 ENSG00000138160 HGNC:6388 KRAS gene KRAS Expert Review Green;Genomics England PanelApp;NHS GMS Vascular Malformations SuperPanel Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Epidermal naevi;Schimmelpenning syndrome Abnormal vascular morphology HP:0025015 22499344;22683711 False 3 100;0;0 1.64 True ENSG00000133703 ENSG00000133703 HGNC:6407 KRAS gene KRAS Expert Review Green;Expert list;Expert list Vascular Malformations SuperPanel Cardiovascular disorders Other Arteriovenous malformation of the brain, somatic 108010;Vascular malformation Abnormal vascular morphology HP:0025015 30677207;30544177;31160609 False 3 100;0;0 1.64 True Other ENSG00000133703 ENSG00000133703 HGNC:6407 KRAS gene KRAS Expert Review Green;Expert Review Vascular Malformations SuperPanel Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Cardiofaciocutaneous syndrome 2 615278;Noonan syndrome 3 609942 Abnormal vascular morphology HP:0025015 21396583 False 3 0;0;0 1.64 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 KRIT1 gene KRIT1 Expert Review Green;Expert Review Green;Victorian Clinical Genetics Services;Royal Melbourne Hospital Vascular Malformations SuperPanel Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cerebral cavernous malformations-1 116860;Cavernous malformations of CNS and retina 116860;Hyperkeratotic cutaneous capillary-venous malformations associated with cerebral capillary malformations 116860 Abnormal vascular morphology HP:0025015 29593473;16571644 False 3 100;0;0 1.64 True ENSG00000001631 ENSG00000001631 HGNC:1573 KRT1 gene KRT1 Expert Review Green;Genomics England PanelApp;NHS GMS Vascular Malformations SuperPanel Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Ichthyosis histrix;Epidermolytic hyperkeratosis;Palmoplantar keratoderma Abnormal vascular morphology HP:0025015 28532675;17255957 False 3 100;0;0 1.64 True ENSG00000167768 ENSG00000167768 HGNC:6412 KRT10 gene KRT10 Expert Review Green;Genomics England PanelApp;NHS GMS Vascular Malformations SuperPanel Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Epidermolytic hyperkeratosis;Pachyonychia congenita;Ichythosis with confetti;Palmoplantar keratoderma Abnormal vascular morphology HP:0025015 25495838;29135017 False 3 100;0;0 1.64 True ENSG00000186395 ENSG00000186395 HGNC:6413 LZTR1 gene LZTR1 Expert Review Green;Expert Review Vascular Malformations SuperPanel Cardiovascular disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Schwannomatosis-2, susceptibility to 615670;Noonan syndrome 10 616564 Abnormal vascular morphology HP:0025015 25795793;29469822 False 3 0;0;0 1.64 False ENSG00000099949 ENSG00000099949 HGNC:6742 MAP2K1 gene MAP2K1 Expert Review Green;Expert list;Expert list Vascular Malformations SuperPanel Cardiovascular disorders Other Arteriovenous malformation;Intramuscular fast-flow vascular anomaly Abnormal vascular morphology HP:0025015 31486960;28190454;29461977 False 3 100;0;0 1.64 True 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 MAP2K1 gene MAP2K1 Expert Review Green;Expert Review Vascular Malformations SuperPanel Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Cardiofaciocutaneous syndrome 3 615279 Abnormal vascular morphology HP:0025015 21396583;23321623 False 3 0;0;0 1.64 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 Green;Expert Review Vascular Malformations SuperPanel Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Cardiofaciocutaneous syndrome 4 615280 Abnormal vascular morphology HP:0025015 21396583;23379592 False 3 0;0;0 1.64 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 MAP3K3 gene MAP3K3 Expert Review Green;Expert list;Expert list Vascular Malformations SuperPanel Cardiovascular disorders Other Verrucous venous malformation;Cerebral cavernous malformations 5, MIM# 621032 Abnormal vascular morphology HP:0025015 10700190;25728774;33729480;35355835;33891857;36995941 False 3 100;0;0 1.64 True ENSG00000198909 ENSG00000198909 HGNC:6855 MAP3K3 gene MAP3K3 Expert Review Green;Genomics England PanelApp;NHS GMS Vascular Malformations SuperPanel Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Verrucous haemangiomas Abnormal vascular morphology HP:0025015 25728774 False 3 100;0;0 1.64 True ENSG00000198909 ENSG00000198909 HGNC:6855 MDFIC gene MDFIC Expert Review Green;Literature Vascular Malformations SuperPanel Cardiovascular disorders BIALLELIC, autosomal or pseudoautosomal Lymphatic malformation 12 - MIM#620014 Abnormal vascular morphology HP:0025015 PMID: 35235341 False 3 100;0;0 1.64 True ENSG00000135272 ENSG00000135272 HGNC:28870 MTOR gene MTOR Expert Review Green;Genomics England PanelApp;NHS GMS Vascular Malformations SuperPanel Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hypomelanosis of Ito/Blaschko-linear hypopigmentation Abnormal vascular morphology HP:0025015 27159400 False 3 100;0;0 1.64 True ENSG00000198793 ENSG00000198793 HGNC:3942 MVD gene MVD Expert Review Green;Genomics England PanelApp;NHS GMS Vascular Malformations SuperPanel Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Linear porokeratosis;Porokeratosis 7, multiple types, MIM# 614714 Abnormal vascular morphology HP:0025015 30942823;33491095 False 3 100;0;0 1.64 True ENSG00000167508 ENSG00000167508 HGNC:7529 NF1 gene NF1 Expert Review Green;Genomics England PanelApp;NHS GMS Vascular Malformations SuperPanel Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurofibromatosis type I, MIM#162200 Abnormal vascular morphology HP:0025015 14605872;17668375 False 3 100;0;0 1.64 True ENSG00000196712 ENSG00000196712 HGNC:7765 NF1 gene NF1 Expert Review Green;Expert Review Vascular Malformations SuperPanel Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Neurofibromatosis, type 1 162200;Neurofibromatosis-Noonan syndrome 601321 Abnormal vascular morphology HP:0025015 19845691;16380919;12707950 False 3 0;0;0 1.64 False ENSG00000196712 ENSG00000196712 HGNC:7765 NF2 gene NF2 Expert Review Green;Genomics England PanelApp;NHS GMS Vascular Malformations SuperPanel Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Schwannomatosis, somatic 162091;Meningioma, NF2-related, somatic 607174;Neurofibromatosis, type 2 101000 Abnormal vascular morphology HP:0025015 29409008 False 3 100;0;0 1.64 True ENSG00000186575 ENSG00000186575 HGNC:7773 NRAS gene NRAS Expert Review Green;Genomics England PanelApp;NHS GMS Vascular Malformations SuperPanel Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Noonan syndrome;Melanocytic naevi;Congenital melanocytic naevus syndrome Abnormal vascular morphology HP:0025015 22499344;24006476;10878667 False 3 100;0;0 1.64 True ENSG00000213281 ENSG00000213281 HGNC:7989 NRAS gene NRAS Expert Review Green;Expert list;Expert list Vascular Malformations SuperPanel Cardiovascular disorders Other Kaposiform lymphangiomatosis;Sporadic vascular malformation Abnormal vascular morphology HP:0025015 30542204;29461977 False 3 100;0;0 1.64 True 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 NRAS gene NRAS Expert Review Green;Expert Review Vascular Malformations SuperPanel Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Noonan syndrome 6 613224 Abnormal vascular morphology HP:0025015 19775298;19966803 False 3 0;0;0 1.64 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 Review Green;Expert list Vascular Malformations SuperPanel Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Sotos syndrome 1 117550 Abnormal vascular morphology HP:0025015 26738611;9781911 False 3 0;0;0 1.64 False ENSG00000165671 ENSG00000165671 HGNC:14234 PDGFRB gene PDGFRB Expert Review Green;Literature Vascular Malformations SuperPanel Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted aneurysm;scoliosis;atrophic skin;stroke;infantile myofibromatosis Abnormal vascular morphology HP:0025015 PMID: 33683022;32291752 False 3 100;0;0 1.64 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000113721 ENSG00000113721 HGNC:8804 PIEZO1 gene PIEZO1 Expert Review Green;London South GLH;Expert list Vascular Malformations SuperPanel 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 Abnormal vascular morphology HP:0025015 26333996;26387913 False 3 0;0;0 1.64 False ENSG00000103335 ENSG00000103335 HGNC:28993 PIEZO1 gene PIEZO1 Victorian Clinical Genetics Services;Expert Review Green Vascular Malformations SuperPanel Cardiovascular disorders Unknown Abnormal vascular morphology HP:0025015 False 3 0;0;0 1.64 False ENSG00000103335 ENSG00000103335 HGNC:28993 PIK3CA gene PIK3CA Expert Review Green;Royal Melbourne Hospital Vascular Malformations SuperPanel Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Congenital Lipomatous Overgrowth, Vascular Malformations, and Epidermal Nevi;Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome MIM#602501 Abnormal vascular morphology HP:0025015 22729224;23246288 False 3 100;0;0 1.64 True Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000121879 ENSG00000121879 HGNC:8975 PIK3CA gene PIK3CA Expert Review Green;Genomics England PanelApp;NHS GMS Vascular Malformations SuperPanel Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Vascular malformations;PIK3CA-related overgrowth syndromes;CLAPO syndrome, somatic 613089;CLOVE syndrome, somatic 612918;Nevus, epidermal, somatic 162900 Abnormal vascular morphology HP:0025015 22499344;23100325;22729224;29446767 False 3 100;0;0 1.64 True ENSG00000121879 ENSG00000121879 HGNC:8975 PIK3CA gene PIK3CA Expert Review Green;Expert list Vascular Malformations SuperPanel Cardiovascular disorders Other Megalencephaly-capillary malformation (MCAP) syndrome;Cowden syndrome 5 615108 Abnormal vascular morphology HP:0025015 22729224;23246288 False 3 100;0;0 1.64 True Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000121879 ENSG00000121879 HGNC:8975 PIK3R1 gene PIK3R1 Expert Review Green;Expert list;Expert list Vascular Malformations SuperPanel Cardiovascular disorders Other capillary malformation MONDO:0016231, PIK3R1-related Abnormal vascular morphology HP:0025015 29174369;34040190;37641480;38431221 False 3 100;0;0 1.64 True ENSG00000145675 ENSG00000145675 HGNC:8979 PIK3R2 gene PIK3R2 Expert Review Green;Literature Vascular Malformations SuperPanel Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Megalencephaly syndromes Abnormal vascular morphology HP:0025015 PMID: 22729224 False 3 100;0;0 1.64 True ENSG00000105647 ENSG00000105647 HGNC:8980 PMM2 gene PMM2 Expert Review Green;Expert list Vascular Malformations SuperPanel Cardiovascular disorders BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type Ia 212065 Abnormal vascular morphology HP:0025015 9762608;15645285;20638314;17158594 False 3 0;0;0 1.64 False ENSG00000140650 ENSG00000140650 HGNC:9115 PORCN gene PORCN Expert Review Green;NHS GMS Vascular Malformations SuperPanel Cardiovascular disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Focal dermal hypoplasia (MONDO:0010592;MIM#305600) Abnormal vascular morphology HP:0025015 17546030;19309688 False 3 100;0;0 1.64 True Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000102312 ENSG00000102312 HGNC:17652 PPP1CB gene PPP1CB Expert Review Green;Expert Review Vascular Malformations SuperPanel Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Noonan syndrome-like disorder with loose anagen hair 2 617506 Abnormal vascular morphology HP:0025015 27264673;27681385;28211982 False 3 0;0;0 1.64 False ENSG00000213639 ENSG00000213639 HGNC:9282 PTEN gene PTEN Expert Review Green;Royal Melbourne Hospital Vascular Malformations SuperPanel Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Cowden syndrome 1, MIM# 158350;Bannayan-Riley-Ruvalcaba syndrome;Lhermitte-Duclos syndrome Abnormal vascular morphology HP:0025015 32196895 False 3 100;0;0 1.64 True ENSG00000171862 ENSG00000171862 HGNC:9588 PTEN gene PTEN Expert Review Green;Genomics England PanelApp;NHS GMS Vascular Malformations SuperPanel Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Epidermal naevi;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome;Melanoma Abnormal vascular morphology HP:0025015 12471211;10749983 False 3 100;0;0 1.64 True ENSG00000171862 ENSG00000171862 HGNC:9588 PTPN11 gene PTPN11 Expert Review Green;Expert Review Vascular Malformations SuperPanel Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Noonan syndrome 1 163950;LEOPARD syndrome 1 151100 Abnormal vascular morphology HP:0025015 17497712;12634870;15384080;17603483;12529711;15240615;18678287;16263833;11704759 False 3 0;0;0 1.64 False Other - please provide details in the comments ENSG00000179295 ENSG00000179295 HGNC:9644 PTPN14 gene PTPN14 Expert Review Green;UKGTN;Radboud University Medical Center, Nijmegen;London South GLH Vascular Malformations SuperPanel Cardiovascular disorders BIALLELIC, autosomal or pseudoautosomal Choanal atresia and lymphedema, 613611 Abnormal vascular morphology HP:0025015 24167460;20826270 False 3 0;0;0 1.64 False ENSG00000152104 ENSG00000152104 HGNC:9647 PTPN14 gene PTPN14 Expert Review Green;Expert list Vascular Malformations SuperPanel Cardiovascular disorders BIALLELIC, autosomal or pseudoautosomal "Choanal atresia and lymphedema MIM#613611" Abnormal vascular morphology HP:0025015 20826270;https://doi.org/10.1016/j.mgene.2017.07.006 False 3 100;0;0 1.64 True ENSG00000152104 ENSG00000152104 HGNC:9647 RAF1 gene RAF1 Expert Review Green;Expert Review Vascular Malformations SuperPanel Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Noonan syndrome 5 611553;LEOPARD syndrome 2 611554 Abnormal vascular morphology HP:0025015 17603483;17603482 False 3 0;0;0 1.64 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 Review Green;Royal Melbourne Hospital Vascular Malformations SuperPanel Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Capillary malformation-arteriovenous malformation, MIM# 608354 Abnormal vascular morphology HP:0025015 14639529;29891884;24038909;31300548 False 3 100;0;0 1.64 True ENSG00000145715 ENSG00000145715 HGNC:9871 RASA1 gene RASA1 Expert Review Green;Expert list Vascular Malformations SuperPanel Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Capillary malformation-arteriovenous malformation 1 608354 Abnormal vascular morphology HP:0025015 26969842;22342634;23650393 False 3 0;0;0 1.64 False ENSG00000145715 ENSG00000145715 HGNC:9871 RASA1 gene RASA1 Expert Review Green;Expert Review Vascular Malformations SuperPanel Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Capillary malformation-arteriovenous malformation 1 (608354) Abnormal vascular morphology HP:0025015 31300548;30635911 False 3 100;0;0 1.64 True ENSG00000145715 ENSG00000145715 HGNC:9871 RHOA gene RHOA Expert Review Green;Genomics England PanelApp;NHS GMS Vascular Malformations SuperPanel Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Blaschko-linear hypopigmentation syndrome Abnormal vascular morphology HP:0025015 31570889 False 3 100;0;0 1.64 True ENSG00000067560 ENSG00000067560 HGNC:667 RIT1 gene RIT1 Expert Review Green;Expert Review Vascular Malformations SuperPanel Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Noonan syndrome 8 615355 Abnormal vascular morphology HP:0025015 23791108;24939608;25124994 False 3 0;0;0 1.64 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 Review Green;Expert list Vascular Malformations SuperPanel Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phelan-McDermid syndrome, MIM# 606232;MONDO:0011652 Abnormal vascular morphology HP:0025015 31319798 False 3 100;0;0 1.64 True ENSG00000251322 ENSG00000251322 HGNC:14294 SHOC2 gene SHOC2 Expert Review Green;Expert Review Vascular Malformations SuperPanel Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Noonan-like syndrome with loose anagen hair 607721 Abnormal vascular morphology HP:0025015 23918763;19684605;22528146 False 3 0;0;0 1.64 False ENSG00000108061 ENSG00000108061 HGNC:15454 SMAD4 gene SMAD4 Expert Review Green;Royal Melbourne Hospital Vascular Malformations SuperPanel Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, 175050 Abnormal vascular morphology HP:0025015 False 3 100;0;0 1.64 True ENSG00000141646 ENSG00000141646 HGNC:6770 SMO gene SMO Expert Review Green;Genomics England PanelApp;NHS GMS Vascular Malformations SuperPanel Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Curry-Jones syndrome, MIM#601707 Abnormal vascular morphology HP:0025015 27236920 False 3 100;0;0 1.64 True ENSG00000128602 ENSG00000128602 HGNC:11119 SOS1 gene SOS1 Expert Review Green;Expert Review Vascular Malformations SuperPanel Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Noonan syndrome 4 610733 Abnormal vascular morphology HP:0025015 19438935;17143285;17143282;17586837 False 3 0;0;0 1.64 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 Green;Expert Review Vascular Malformations SuperPanel Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Noonan syndrome 9 616559 Abnormal vascular morphology HP:0025015 25795793;26173643;32788663 False 3 100;0;0 1.64 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 Victorian Clinical Genetics Services;Expert Review Green Vascular Malformations SuperPanel Cardiovascular disorders Unknown Abnormal vascular morphology HP:0025015 False 3 0;0;0 1.64 False ENSG00000203883 ENSG00000203883 HGNC:11194 SOX18 gene SOX18 Expert Review Green;Expert list Vascular Malformations SuperPanel Cardiovascular disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal "Hypotrichosis-lymphedema-telangiectasia syndrome, MIM# 607823;Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome, MIM# 137940" Abnormal vascular morphology HP:0025015 12740761;24697860;2484451;26148450 False 3 100;0;0 1.64 True ENSG00000203883 ENSG00000203883 HGNC:11194 SOX18 gene SOX18 Expert Review Green;Radboud University Medical Center, Nijmegen;London South GLH Vascular Malformations SuperPanel Cardiovascular disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal "Hypotrichosis-lymphedema-telangiectasia syndrome, 607823;Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome 137940" Abnormal vascular morphology HP:0025015 26148450;12740761 False 3 0;0;0 1.64 False ENSG00000203883 ENSG00000203883 HGNC:11194 SPRED1 gene SPRED1 Expert Review Green;Genomics England PanelApp;NHS GMS Vascular Malformations SuperPanel Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Legius syndrome, MIM# 611431" Abnormal vascular morphology HP:0025015 27423141 False 3 100;0;0 1.64 True ENSG00000166068 ENSG00000166068 HGNC:20249 SPRED1 gene SPRED1 Expert Review Green;Expert Review Vascular Malformations SuperPanel Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Legius syndrome 611431 Abnormal vascular morphology HP:0025015 19366998;17704776;19443465;21548021;21649642 False 3 0;0;0 1.64 False ENSG00000166068 ENSG00000166068 HGNC:20249 STAMBP gene STAMBP Expert Review Green;Royal Melbourne Hospital Vascular Malformations SuperPanel Cardiovascular disorders BIALLELIC, autosomal or pseudoautosomal Microcephaly-capillary malformation syndrome, MIM# 614261 Abnormal vascular morphology HP:0025015 23542699 False 3 100;0;0 1.64 True ENSG00000124356 ENSG00000124356 HGNC:16950 TEK gene TEK Expert Review Green;Royal Melbourne Hospital Vascular Malformations SuperPanel Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Venous malformations, multiple cutaneous and mucosal 600195 Abnormal vascular morphology HP:0025015 19888299 False 3 100;0;0 1.64 True ENSG00000120156 ENSG00000120156 HGNC:11724 TEK gene TEK Expert Review Green;Expert Review Vascular Malformations SuperPanel Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Venous malformations, multiple cutaneous and mucosal (600195);Blue rubber bleb naevus syndrome;Sporadic multifocal vascular malformations Abnormal vascular morphology HP:0025015 27519652 False 3 100;0;0 1.64 True Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000120156 ENSG00000120156 HGNC:11724 TIE1 gene TIE1 Expert Review Green;Literature Vascular Malformations SuperPanel Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Lymphatic malformation 11, MIM# 619401" Abnormal vascular morphology HP:0025015 32947856;24764452;38820174 False 3 50;50;0 1.64 True ENSG00000066056 ENSG00000066056 HGNC:11809 TSC1 gene TSC1 Expert Review Green;Literature;Expert Review Vascular Malformations SuperPanel Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Tuberous sclerosis-1, MIM# 191100 Abnormal vascular morphology HP:0025015 PMID: 26540169 False 3 100;0;0 1.64 True ENSG00000165699 ENSG00000165699 HGNC:12362 TSC1 gene TSC1 Expert Review Green;Expert list Vascular Malformations SuperPanel Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Tuberous sclerosis-1 191100;Lymphangioleiomyomatosis 606690;Focal cortical dysplasia, type II, somatic 607341 Abnormal vascular morphology HP:0025015 False 3 0;0;0 1.64 False ENSG00000165699 ENSG00000165699 HGNC:12362 TSC2 gene TSC2 Expert Review Green;Expert Review;Literature Vascular Malformations SuperPanel Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Tuberous sclerosis-2, MIM# 613254 Abnormal vascular morphology HP:0025015 PMID: 26540169 False 3 100;0;0 1.64 True ENSG00000103197 ENSG00000103197 HGNC:12363 TSC2 gene TSC2 Expert Review Green;Expert list Vascular Malformations SuperPanel Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Lymphangioleiomyomatosis, somatic 606690;?Focal cortical dysplasia, type II, somatic 607341;Tuberous sclerosis-2 613254 Abnormal vascular morphology HP:0025015 False 3 0;0;0 1.64 False ENSG00000103197 ENSG00000103197 HGNC:12363 VEGFC gene VEGFC Expert Review Green;Victorian Clinical Genetics Services Vascular Malformations SuperPanel Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Lymphatic malformation 4, MIM#615907 Abnormal vascular morphology HP:0025015 23410910;24744435;30071673 False 3 100;0;0 1.64 True ENSG00000150630 ENSG00000150630 HGNC:12682 VEGFC gene VEGFC Expert Review Green;London South GLH;Expert list Vascular Malformations SuperPanel Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown "Lymphedema, hereditary, ID 615907 (Primary Lymphoedema, Milroy-like)" Abnormal vascular morphology HP:0025015 30071673;24744435;23410910;14634646 False 3 0;0;0 1.64 False ENSG00000150630 ENSG00000150630 HGNC:12682