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 ACVRL1 gene ACVRL1 Expert Review Green;London North GLH;NHS GMS Vascular skin disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Telangiectasia, hereditary hemorrhagic, type 2, OMIM:600376 8640225 False 3 100;0;0 1.63 False ENSG00000139567 ENSG00000139567 HGNC:175 ADAMTS13 gene ADAMTS13 Expert Review Green Vascular skin disorders BIALLELIC, autosomal or pseudoautosomal Thrombotic thrombocytopenic purpura, hereditary, OMIM:274150 11586351 False 3 33;33;33 1.63 False ENSG00000160323 ENSG00000160323 HGNC:1366 ALAS2 gene ALAS2 Expert Review;Expert Review Green Vascular skin disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Protoporphyria, erythropoietic, X-linked, OMIM:300752 18760763 False 3 67;0;33 1.63 False ENSG00000158578 ENSG00000158578 HGNC:397 ATM gene ATM Expert Review Green;London North GLH;NHS GMS Vascular skin disorders BIALLELIC, autosomal or pseudoautosomal Ataxia telengiectasia, OMIM:208900 7792600 False 3 100;0;0 1.63 False ENSG00000149311 ENSG00000149311 HGNC:795 CCBE1 gene CCBE1 Expert Review Green;London North GLH;NHS GMS Vascular skin disorders BIALLELIC, autosomal or pseudoautosomal Hennekam lymphangiectasia-lymphedema syndrome 1, OMIM:235510 19935664 False 3 67;0;33 1.63 False ENSG00000183287 ENSG00000183287 HGNC:29426 ENG gene ENG Expert Review Green;London North GLH;NHS GMS Vascular skin disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Telangiectasia, hereditary hemorrhagic, type 1, OMIM:187300 7894484 False 3 100;0;0 1.63 False ENSG00000106991 ENSG00000106991 HGNC:3349 EPHB4 gene EPHB4 Expert Review Green;London North GLH;NHS GMS Vascular skin disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Capillary malformation-arteriovenous malformation 2, OMIM:618196 28687708 False 3 100;0;0 1.63 False ENSG00000196411 ENSG00000196411 HGNC:3395 F12 gene F12 Expert Review Green;London North GLH;NHS GMS Vascular skin disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Angioedema, hereditary, type III, OMIM:610618;Factor XII deficiency, OMIM:234000 16638441 False 3 67;0;33 1.63 False ENSG00000131187 ENSG00000131187 HGNC:3530 FECH gene FECH Expert Review Green Vascular skin disorders BIALLELIC, autosomal or pseudoautosomal Protoporphyria, erythropoietic, 1, OMIM:177000 9649563 False 3 50;50;0 1.63 False ENSG00000066926 ENSG00000066926 HGNC:3647 FLT4 gene FLT4 Expert Review Green;London North GLH;NHS GMS Vascular skin disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hemangioma, capillary infantile, somatic, OMIM:602089 10835628;11807987 False 3 67;0;33 1.63 False ENSG00000037280 ENSG00000037280 HGNC:3767 FOXC2 gene FOXC2 Expert Review Green;London North GLH;NHS GMS Vascular skin disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Lymphoedema-distichiasis syndrome, OMIM:153400 11078474 False 3 67;0;33 1.63 False ENSG00000176692 ENSG00000176692 HGNC:3801 GLMN gene GLMN Expert Review Green;London North GLH;NHS GMS Vascular skin disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Glomulovenous malformations, OMIM:138000 11845407 False 3 100;0;0 1.63 False ENSG00000174842 ENSG00000174842 HGNC:14373 KRIT1 gene KRIT1 Expert Review Green;London North GLH;NHS GMS Vascular skin disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted CEREBRAL CAVERNOUS MALFORMATIONS 1, OMIM:116860 10508515 False 3 100;0;0 1.63 False ENSG00000001631 ENSG00000001631 HGNC:1573 PIK3CA gene PIK3CA Expert Review Green;London North GLH;NHS GMS Vascular skin disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted PIK3CA-related overgrowth syndromes;Vascular malformation, MONDO:0024291 22658544;22729223;22729222;23246288;22729224 False 3 100;0;0 1.63 False ENSG00000121879 ENSG00000121879 HGNC:8975 PIK3R2 gene PIK3R2 Expert Review Green;London North GLH;NHS GMS Vascular skin disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1, OMIM:603387 22729224;23745720;28502725;26520804 False 3 67;0;33 1.63 False ENSG00000105647 ENSG00000105647 HGNC:8980 RASA1 gene RASA1 Expert Review Green;London North GLH;NHS GMS Vascular skin disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Capillary malformation-arteriovenous malformation syndrome 1, OMIM:608354 14639529 False 3 100;0;0 1.63 False ENSG00000145715 ENSG00000145715 HGNC:9871 SCN9A gene SCN9A Expert Review Green;London North GLH;NHS GMS Vascular skin disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Erythermalgia, primary, OMIM:133020 14985375 False 3 100;0;0 1.63 False ENSG00000169432 ENSG00000169432 HGNC:10597 SMAD4 gene SMAD4 Expert Review Green;London North GLH;NHS GMS Vascular skin disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, OMIM:175050 15031030 False 3 100;0;0 1.63 False ENSG00000141646 ENSG00000141646 HGNC:6770 SOX18 gene SOX18 Expert Review Green;London North GLH;NHS GMS Vascular skin disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Hypotrichosis-lymphedema-telangiectasia syndrome, OMIM:607823;Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome, OMIM:137940 12740761 False 3 100;0;0 1.63 False ENSG00000203883 ENSG00000203883 HGNC:11194 TEK gene TEK Expert Review Green;London North GLH;NHS GMS Vascular skin disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Venous malformations, multiple cutaneous and mucosal, OMIM:600195 19888299 False 3 100;0;0 1.63 False ENSG00000120156 ENSG00000120156 HGNC:11724 TMEM173 gene TMEM173 Expert Review Green;London North GLH;NHS GMS Vascular skin disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted STING-associated vasculopathy, infantile-onset, OMIM:615934 25029335 False 3 100;0;0 1.63 False ENSG00000184584 ENSG00000184584 HGNC:27962 AKT3 gene AKT3 Expert list;Expert Review Amber Vascular skin disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome (615937) 23745724;22729224 False 2 100;0;0 1.63 False 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 ATR gene ATR Expert Review Amber;London North GLH;NHS GMS Vascular skin disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted ?Cutaneous telangiectasia and cancer syndrome, familial, OMIM:614564 22341969 False 2 50;50;0 1.63 False ENSG00000175054 ENSG00000175054 HGNC:882 PTEN gene PTEN Expert Review Amber;Other Vascular skin disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Cowden syndrome 1, OMIM:158350;capillary venous malformations False 2 0;0;0 1.63 False ENSG00000171862 ENSG00000171862 HGNC:9588 STAMBP gene STAMBP Expert list;Expert Review Amber Vascular skin disorders BIALLELIC, autosomal or pseudoautosomal Microcephaly-capillary malformation syndrome, OMIM:614261 21271646;21548128;21815250;23542699;25692795;27531570;29907875 False 2 100;0;0 1.63 False ENSG00000124356 ENSG00000124356 HGNC:16950 AGGF1 gene AGGF1 Expert Review Red;London North GLH;NHS GMS Vascular skin disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Susceptibility to Klippel-Trenaunay-Weber syndrome False 1 0;0;100 1.63 False ENSG00000164252 ENSG00000164252 HGNC:24684 ANTXR1 gene ANTXR1 Expert Review Red;London North GLH;NHS GMS Vascular skin disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted {?Hemangioma, capillary infantile, susceptibility to}, OMIM:602089 False 1 0;0;100 1.63 False ENSG00000169604 ENSG00000169604 HGNC:21014 AP3B1 gene AP3B1 Expert Review Red Vascular skin disorders BIALLELIC, autosomal or pseudoautosomal Hermansky-Pudlak syndrome 2 False 1 0;100;0 1.63 False ENSG00000132842 ENSG00000132842 HGNC:566 CPO gene CPO Expert Review Red Vascular skin disorders False 1 0;100;0 1.63 False ENSG00000144410 ENSG00000144410 HGNC:21011 CPOX gene CPOX Expert Review Red Vascular skin disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown False 1 0;100;0 1.63 False ENSG00000080819 ENSG00000080819 HGNC:2321 IDH1 gene IDH1 Expert Review Red;London North GLH;NHS GMS Vascular skin disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Ollier disease;Maffucci syndrome False 1 0;0;100 1.63 False ENSG00000138413 ENSG00000138413 HGNC:5382 IDH2 gene IDH2 Expert Review Red;London North GLH;NHS GMS Vascular skin disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Ollier disease;Maffucci syndrome False 1 0;0;100 1.63 False ENSG00000182054 ENSG00000182054 HGNC:5383 KDR gene KDR Expert Review Red;London North GLH;NHS GMS Vascular skin disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Susceptibility to infantile haemangioma 18931684;11807987 False 1 50;50;0 1.63 False ENSG00000128052 ENSG00000128052 HGNC:6307 PPOX gene PPOX Expert Review Red Vascular skin disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown False 1 0;100;0 1.63 False ENSG00000143224 ENSG00000143224 HGNC:9280 VEGFA gene VEGFA Expert Review Red;London North GLH;NHS GMS Vascular skin disorders Association with POEMS syndrome False 1 0;0;100 1.63 False ENSG00000112715 ENSG00000112715 HGNC:12680