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 ADA2 gene ADA2 Expert Review Green;Expert Review Green;Literature;Genomics England PanelApp;Expert Review Amber;Victorian Clinical Genetics Services Vascular Malformations SuperPanel Cardiovascular disorders BIALLELIC, autosomal or pseudoautosomal Sneddon syndrome 182410;Polyarteritis nodosa Abnormal vascular morphology HP:0025015 3471198, 25528372 False 2 67;33;0 1.97 False ENSG00000093072 ENSG00000093072 HGNC:1839 ANO1 gene ANO1 Expert Review Amber;Literature;Literature Vascular Malformations SuperPanel Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Moyamoya disease 7, MIM# 620687 Abnormal vascular morphology HP:0025015 PMID: 37253099 False 2 33;67;0 1.97 True ENSG00000131620 ENSG00000131620 HGNC:21625 ARAF gene ARAF Expert Review Amber;Literature Vascular Malformations SuperPanel Cardiovascular disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Lymphatic malformation, MONDO:0019313, ARAF-related Abnormal vascular morphology HP:0025015 31263281 False 2 0;100;0 1.97 True Other ENSG00000078061 ENSG00000078061 HGNC:646 ARAF gene ARAF Literature;Expert Review Amber;Expert Review Amber;Literature Vascular Malformations SuperPanel Cardiovascular disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Lymphatic malformation, MONDO:0019313, ARAF-related Abnormal vascular morphology HP:0025015 31263281 False 2 0;100;0 1.97 False Other ENSG00000078061 ENSG00000078061 HGNC:646 ARAP3 gene ARAP3 Expert Review Amber;Literature Vascular Malformations SuperPanel Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Lymphoedema, MONDO:0019297, ARAP3-related Abnormal vascular morphology HP:0025015 32908855 False 2 0;100;0 1.97 True ENSG00000120318 ENSG00000120318 HGNC:24097 ARAP3 gene ARAP3 Literature;Expert Review Amber;Expert Review Amber;Literature Vascular Malformations SuperPanel Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Lymphoedema, MONDO:0019297, ARAP3-related Abnormal vascular morphology HP:0025015 32908855 False 2 0;100;0 1.97 False ENSG00000120318 ENSG00000120318 HGNC:24097 BRCC3 gene BRCC3 Expert Review Amber;Genomics England PanelApp Vascular Malformations SuperPanel Cardiovascular disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females MoyaMoya Disease, syndromic, MONDO:0016820 Abnormal vascular morphology HP:0025015 21596366;33868155 False 2 0;100;0 1.97 True ENSG00000185515 ENSG00000185515 HGNC:24185 CARD14 gene CARD14 Expert Review Amber;Genomics England PanelApp;NHS GMS Vascular Malformations SuperPanel Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Inflammatory linear verrucous epidermal naevus Abnormal vascular morphology HP:0025015 34116062 False 2 0;50;50 1.97 True Other ENSG00000141527 ENSG00000141527 HGNC:16446 CCM2 gene CCM2 Expert Review Amber;Royal Melbourne Hospital Vascular Malformations SuperPanel Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Cerebral cavernous malformations-2, MIM# 603284 Abnormal vascular morphology HP:0025015 21543988;14624391 False 2 0;100;0 1.97 True ENSG00000136280 ENSG00000136280 HGNC:21708 CDKN1C gene CDKN1C Expert Review Amber;Expert list Vascular Malformations SuperPanel Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Beckwith-Wiedemann syndrome 130650 Abnormal vascular morphology HP:0025015 False 2 0;50;50 1.97 True ENSG00000129757 ENSG00000129757 HGNC:1786 CHD4 gene CHD4 Expert Review Amber;Literature;Expert Review Green;Victorian Clinical Genetics Services Vascular Malformations SuperPanel Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Moya Moya;Sifrim-Hitz-Weiss syndrome, MIM# 617159" Abnormal vascular morphology HP:0025015 31474762 False 2 50;25;25 1.97 True ENSG00000111642 ENSG00000111642 HGNC:1919 CNOT3 gene CNOT3 Expert Review Amber;Literature;Expert Review Green;Victorian Clinical Genetics Services Vascular Malformations SuperPanel Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Moya Moya;Intellectual developmental disorder with speech delay, autism, and dysmorphic facies, MIM# 618672" Abnormal vascular morphology HP:0025015 31474762 False 2 50;50;0 1.97 True ENSG00000088038 ENSG00000088038 HGNC:7879 EPHB4 gene EPHB4 Expert Review Amber;Other Vascular Malformations SuperPanel Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Capillary malformation-arteriovenous malformation Abnormal vascular morphology HP:0025015 31300548;30760892 False 2 0;100;0 1.97 True ENSG00000196411 ENSG00000196411 HGNC:3395 FOXM1 gene FOXM1 Expert Review Amber;Literature;Literature Vascular Malformations SuperPanel Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Moyamoya disease MONDO:0016820 Abnormal vascular morphology HP:0025015 38969938 False 2 0;100;0 1.97 True ENSG00000111206 ENSG00000111206 HGNC:3818 GNA13 gene GNA13 Expert Review Amber;Literature Vascular Malformations SuperPanel Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Ito hypomelanosis MONDO:0010302 Abnormal vascular morphology HP:0025015 39966435 False 2 0;100;0 1.97 True Other ENSG00000120063 ENSG00000120063 HGNC:4381 GPAA1 gene GPAA1 Expert Review Amber;Literature Vascular Malformations SuperPanel Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Vascular malformation, MONDO:0024291, GPAA1-related Abnormal vascular morphology HP:0025015 32533362 False 2 0;100;0 1.97 True ENSG00000197858 ENSG00000197858 HGNC:4446 GPRASP1 gene GPRASP1 Expert Review Amber;Literature Vascular Malformations SuperPanel Cardiovascular disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Arteriovenous hemangioma/malformation, GPRASP1-related, MONDO:0001256 Abnormal vascular morphology HP:0025015 37787182 False 2 0;100;0 1.97 True ENSG00000198932 ENSG00000198932 HGNC:24834 HBB gene HBB Genomics England PanelApp;Expert Review Amber Vascular Malformations SuperPanel Cardiovascular disorders BIALLELIC, autosomal or pseudoautosomal Sickle cell anemia 603903 Abnormal vascular morphology HP:0025015 20301551 False 2 50;0;50 1.97 False ENSG00000244734 ENSG00000244734 HGNC:4827 KDR gene KDR Expert Review Amber;Expert list Vascular Malformations SuperPanel Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown {Hemangioma, capillary infantile, susceptibility to} 602089;Hemangioma, capillary infantile, somatic 602089;Cystic hygroma Abnormal vascular morphology HP:0025015 30475086;7596435;24704994;18931684 False 2 0;100;0 1.97 True ENSG00000128052 ENSG00000128052 HGNC:6307 KIF11 gene KIF11 Expert Review Amber;Victorian Clinical Genetics Services 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 2 0;100;0 1.97 True ENSG00000138160 ENSG00000138160 HGNC:6388 LRRC8C gene LRRC8C Expert Review Amber;Literature Vascular Malformations SuperPanel Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown TIMES syndrome MIM#621056 Abnormal vascular morphology HP:0025015 39623139 False 2 0;100;0 1.97 True Other ENSG00000171488 ENSG00000171488 HGNC:25075 MAP2K1 gene MAP2K1 Expert Review Amber;Genomics England PanelApp;NHS GMS Vascular Malformations SuperPanel Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted vascular malformations Abnormal vascular morphology HP:0025015 29461977 False 2 50;50;0 1.97 True ENSG00000169032 ENSG00000169032 HGNC:6840 MET gene MET Expert Review Amber;Literature Vascular Malformations SuperPanel Cardiovascular disorders Other lymphovenous malformation;overgrowth Abnormal vascular morphology HP:0025015 PMID: 32858245 False 2 0;100;0 1.97 True Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000105976 ENSG00000105976 HGNC:7029 MTOR gene MTOR Expert Review Amber;Expert list;Expert list Vascular Malformations SuperPanel Cardiovascular disorders Other Smith-Kingsmore syndrome 616638;Focal cortical dysplasia, type II, somatic 607341 Abnormal vascular morphology HP:0025015 29174369;28892148 False 2 0;100;0 1.97 True Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000198793 ENSG00000198793 HGNC:3942 NOS3 gene NOS3 Expert Review Amber;Literature Vascular Malformations SuperPanel Cardiovascular disorders BIALLELIC, autosomal or pseudoautosomal Moyamoya disease 8, MIM# 621469 Abnormal vascular morphology HP:0025015 36941667;37383439 False 2 0;100;0 1.97 True ENSG00000164867 ENSG00000164867 HGNC:7876 PDCD10 gene PDCD10 Expert Review Amber;Royal Melbourne Hospital Vascular Malformations SuperPanel Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Cerebral cavernous malformations 3 Abnormal vascular morphology HP:0025015 False 2 0;100;0 1.97 True ENSG00000114209 ENSG00000114209 HGNC:8761 PKD2 gene PKD2 Expert Review Green;Genomics England PanelApp;Expert Review Amber;Victorian Clinical Genetics Services Vascular Malformations SuperPanel Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Polycystic kidney disease 2 613095 Abnormal vascular morphology HP:0025015 False 2 50;50;0 1.97 False ENSG00000118762 ENSG00000118762 HGNC:9009 PMVK gene PMVK Expert Review Amber;Genomics England PanelApp;NHS GMS Vascular Malformations SuperPanel Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Linear porokeratosis;Porokeratosis 1, multiple types, MIM# 175800 Abnormal vascular morphology HP:0025015 30942823;26202976 False 2 0;100;0 1.97 True ENSG00000163344 ENSG00000163344 HGNC:9141 RASA1 gene RASA1 Expert Review Amber;Genomics England PanelApp;NHS GMS Vascular Malformations SuperPanel Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Capillary malformation-arteriovenous malformation syndrome Abnormal vascular morphology HP:0025015 30635911;24038909 False 2 50;50;0 1.97 True ENSG00000145715 ENSG00000145715 HGNC:9871 RORC gene RORC Expert Review Amber;Literature Vascular Malformations SuperPanel Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Lymphoedema Abnormal vascular morphology HP:0025015 32960152 False 2 0;100;0 1.97 True ENSG00000143365 ENSG00000143365 HGNC:10260 RORC gene RORC Literature;Expert Review Amber;Expert Review Amber;Literature Vascular Malformations SuperPanel Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Lymphoedema Abnormal vascular morphology HP:0025015 32960152 False 2 0;100;0 1.97 False ENSG00000143365 ENSG00000143365 HGNC:10260 SETD5 gene SETD5 Expert Review Amber;Literature;Expert Review Green;Victorian Clinical Genetics Services Vascular Malformations SuperPanel Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Moya Moya;Mental retardation, autosomal dominant 23, MIM# 615761" Abnormal vascular morphology HP:0025015 31474762 False 2 0;0;100 1.97 True ENSG00000168137 ENSG00000168137 HGNC:25566 SMAD9 gene SMAD9 Expert Review Green;Genomics England PanelApp;Expert Review Amber;Victorian Clinical Genetics Services Vascular Malformations SuperPanel Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Abnormal vascular morphology HP:0025015 False 2 50;50;0 1.97 False ENSG00000120693 ENSG00000120693 HGNC:6774 SOS1 gene SOS1 Expert Review Amber;Expert list;Expert list Vascular Malformations SuperPanel Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Noonan syndrome 4 610733 Abnormal vascular morphology HP:0025015 29907801 False 2 0;0;100 1.97 True ENSG00000115904 ENSG00000115904 HGNC:11187 TEK gene TEK Expert Review Amber;Genomics England PanelApp;NHS GMS Vascular Malformations SuperPanel Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Venous malformations, multiple cutaneous and mucosal, 600195 Abnormal vascular morphology HP:0025015 27519652 False 2 0;100;0 1.97 True ENSG00000120156 ENSG00000120156 HGNC:11724 THSD1 gene THSD1 Expert Review Green;Genomics England PanelApp;Expert Review Amber;Victorian Clinical Genetics Services Vascular Malformations SuperPanel Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown subarachnoid hemorrhage Abnormal vascular morphology HP:0025015 27895300 False 2 33;67;0 1.97 False ENSG00000136114 ENSG00000136114 HGNC:17754