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 ABCC6 gene ABCC6 Expert Review Red;Expert Review Green;Genomics England PanelApp;Victorian Clinical Genetics Services Vascular Malformations SuperPanel Cardiovascular disorders Unknown Moyamoya disease Abnormal vascular morphology HP:0025015 False 1 67;0;33 1.97 True ENSG00000091262 ENSG00000091262 HGNC:57 ACE gene ACE Expert Review Green;Genomics England PanelApp;Expert Review Red;Victorian Clinical Genetics Services Vascular Malformations SuperPanel Cardiovascular disorders {Stroke, hemorrhagic} Abnormal vascular morphology HP:0025015 False 1 50;0;50 1.97 False ENSG00000159640 ENSG00000159640 HGNC:2707 ADGRG1 gene ADGRG1 Expert Review Red;Expert Review Green;Genomics England PanelApp;Expert list;Royal Melbourne Hospital;Victorian Clinical Genetics Services Vascular Malformations SuperPanel Cardiovascular disorders bilateral frontoparietal polymicrogyria MONDO:0011738 Abnormal vascular morphology HP:0025015 False 1 75;0;25 1.97 True ENSG00000205336 ENSG00000205336 HGNC:4512 AKT1 gene AKT1 Expert Review Red;Expert list Vascular Malformations SuperPanel Cardiovascular disorders Other Proteus syndrome, somatic 176920;Cowden syndrome 6 615109 Abnormal vascular morphology HP:0025015 23246288 False 1 100;0;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 ENSG00000142208 ENSG00000142208 HGNC:391 ALG8 gene ALG8 Expert list Vascular Malformations SuperPanel Cardiovascular disorders BIALLELIC, autosomal or pseudoautosomal Abnormal vascular morphology HP:0025015 12480927;15235028 False 1 0;0;0 1.97 False ENSG00000159063 ENSG00000159063 HGNC:23161 ALX3 gene ALX3 UKGTN;Radboud University Medical Center, Nijmegen;Expert Review Red Vascular Malformations SuperPanel Cardiovascular disorders BIALLELIC, autosomal or pseudoautosomal Frontonasal dysplasia 1 136760 Abnormal vascular morphology HP:0025015 15127764 False 1 0;0;0 1.97 False ENSG00000156150 ENSG00000156150 HGNC:449 ANTXR1 gene ANTXR1 Expert Review Red;Expert Review Green;Genomics England PanelApp;Victorian Clinical Genetics Services Vascular Malformations SuperPanel Cardiovascular disorders BIALLELIC, autosomal or pseudoautosomal GAPO syndrome MONDO:0009263 Abnormal vascular morphology HP:0025015 24664815 False 1 50;0;50 1.97 True ENSG00000169604 ENSG00000169604 HGNC:21014 AQP1 gene AQP1 Literature;Expert Review Red Vascular Malformations SuperPanel Cardiovascular disorders Unknown [Blood group, Colton] 110450;Aquaporin-1 deficiency Abnormal vascular morphology HP:0025015 11463012 False 1 0;0;0 1.97 False ENSG00000240583 ENSG00000240583 HGNC:633 ARL6IP6 gene ARL6IP6 Expert Review Red;Other Vascular Malformations SuperPanel Cardiovascular disorders BIALLELIC, autosomal or pseudoautosomal Cutis marmorata telangiectatica congenita Abnormal vascular morphology HP:0025015 31142202 False 1 0;0;100 1.97 True ENSG00000177917 ENSG00000177917 HGNC:24048 ARX gene ARX Expert Review Red;Genomics England PanelApp Vascular Malformations SuperPanel Cardiovascular disorders Cerebral Malformation Disorders Abnormal vascular morphology HP:0025015 False 1 50;0;50 1.97 True ENSG00000004848 ENSG00000004848 HGNC:18060 ATR gene ATR Expert Review Red;Expert Review Green;Genomics England PanelApp;Victorian Clinical Genetics Services Vascular Malformations SuperPanel Cardiovascular disorders BIALLELIC, autosomal or pseudoautosomal Seckel syndrome 1 210600 Abnormal vascular morphology HP:0025015 12640452 False 1 50;0;50 1.97 False ENSG00000175054 ENSG00000175054 HGNC:882 ATR gene ATR Expert Review Red;Expert list Vascular Malformations SuperPanel Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Cutaneous telangiectasia and cancer syndrome, familial, MIM# 614564" Abnormal vascular morphology HP:0025015 22341969 False 1 0;0;100 1.97 True ENSG00000175054 ENSG00000175054 HGNC:882 BRAF gene BRAF Expert Review Red;Expert list Vascular Malformations SuperPanel Cardiovascular disorders Other Sporadic vascular malformations Abnormal vascular morphology HP:0025015 29316280;29461977;30544177 False 1 100;0;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 ENSG00000157764 ENSG00000157764 HGNC:1097 CCDC88A gene CCDC88A Literature;Expert Review Red Vascular Malformations SuperPanel Cardiovascular disorders BIALLELIC, autosomal or pseudoautosomal ?PEHO syndrome-like, 617507 Abnormal vascular morphology HP:0025015 26917597 False 1 0;0;0 1.97 False ENSG00000115355 ENSG00000115355 HGNC:25523 CDC42 gene CDC42 Literature;Expert Review Red Vascular Malformations SuperPanel Cardiovascular disorders Unknown Takenouchi-Kosaki syndrome 616737 Abnormal vascular morphology HP:0025015 26708094 False 1 0;0;0 1.97 False ENSG00000070831 ENSG00000070831 HGNC:1736 CENPJ gene CENPJ Expert Review Green;Genomics England PanelApp;Expert Review Red;Victorian Clinical Genetics Services Vascular Malformations SuperPanel Cardiovascular disorders BIALLELIC, autosomal or pseudoautosomal Seckel syndrome 4 613676 Abnormal vascular morphology HP:0025015 False 1 50;0;50 1.97 False ENSG00000151849 ENSG00000151849 HGNC:17272 CEP152 gene CEP152 Expert Review Red;Expert Review Green;Genomics England PanelApp;Victorian Clinical Genetics Services Vascular Malformations SuperPanel Cardiovascular disorders BIALLELIC, autosomal or pseudoautosomal Seckel syndrome 5 613823 Abnormal vascular morphology HP:0025015 21131973 False 1 50;0;50 1.97 True ENSG00000103995 ENSG00000103995 HGNC:29298 CEP63 gene CEP63 Expert Review Red;Genomics England PanelApp;Expert Review Amber;Victorian Clinical Genetics Services;Victorian Clinical Genetics Services Vascular Malformations SuperPanel Cardiovascular disorders BIALLELIC, autosomal or pseudoautosomal Seckel syndrome 6 614728 Abnormal vascular morphology HP:0025015 21983783 False 1 0;50;50 1.97 True ENSG00000182923 ENSG00000182923 HGNC:25815 CHD7 gene CHD7 Expert Review Red;Expert list Vascular Malformations SuperPanel Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown CHARGE syndrome 214800 Abnormal vascular morphology HP:0025015 16155193;15300250;16400610 False 1 0;0;100 1.97 True ENSG00000171316 ENSG00000171316 HGNC:20626 COL4A2 gene COL4A2 Expert Review Red;Expert Review Green;Genomics England PanelApp Vascular Malformations SuperPanel Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Stroke, hemorrhagic MIM#614519 Abnormal vascular morphology HP:0025015 22209247 False 1 50;0;50 1.97 True ENSG00000134871 ENSG00000134871 HGNC:2203 CRB1 gene CRB1 Expert Review Red;Expert Review Green;Genomics England PanelApp Vascular Malformations SuperPanel Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Pigmented paravenous chorioretinal atrophy MIM#172870 Abnormal vascular morphology HP:0025015 False 1 50;0;50 1.97 True ENSG00000134376 ENSG00000134376 HGNC:2343 CSPP1 gene CSPP1 Expert Review Red;Other Vascular Malformations SuperPanel Cardiovascular disorders Unknown Inflammatory linear verrucous epidermal naevus (ILVEN) Abnormal vascular morphology HP:0025015 https://doi.org/10.1016/S2096-6911(21)00044-3 False 1 0;0;100 1.97 True Other ENSG00000104218 ENSG00000104218 HGNC:26193 CTSA gene CTSA Expert Review Red;Genomics England PanelApp;Expert Review Green;Victorian Clinical Genetics Services Vascular Malformations SuperPanel Cardiovascular disorders BIALLELIC, autosomal or pseudoautosomal galactosialidosis MONDO:0009737 Abnormal vascular morphology HP:0025015 False 1 50;0;50 1.97 True ENSG00000064601 ENSG00000064601 HGNC:9251 DCX gene DCX Expert Review Red;Expert Review Green;Genomics England PanelApp;Victorian Clinical Genetics Services Vascular Malformations SuperPanel Cardiovascular disorders lissencephaly spectrum disorders MONDO:0018838 Abnormal vascular morphology HP:0025015 False 1 50;0;50 1.97 True ENSG00000077279 ENSG00000077279 HGNC:2714 FBXL7 gene FBXL7 Expert Review Red;Literature Vascular Malformations SuperPanel Cardiovascular disorders BIALLELIC, autosomal or pseudoautosomal Hennekam syndrome;lymphedema Abnormal vascular morphology HP:0025015 31633297 False 1 0;0;100 1.97 True ENSG00000183580 ENSG00000183580 HGNC:13604 GDF2 gene GDF2 Expert Review Red;Genomics England PanelApp Vascular Malformations SuperPanel Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Telangiectasia, hereditary hemorrhagic, type 5, MIM# 615506 Abnormal vascular morphology HP:0025015 23972370 False 1 50;0;50 1.97 True ENSG00000128802 ENSG00000263761 HGNC:4217 GJA1 gene GJA1 Expert Review Red;Other Vascular Malformations SuperPanel Cardiovascular disorders Unknown Inflammatory linear verrucous epidermal naevus (ILVEN) Abnormal vascular morphology HP:0025015 27890787 False 1 0;0;100 1.97 True Other ENSG00000152661 ENSG00000152661 HGNC:4274 GNA11 gene GNA11 Expert Review Red;Royal Melbourne Hospital Vascular Malformations SuperPanel Cardiovascular disorders Other Somatic hemangioma Abnormal vascular morphology HP:0025015 30677207 False 1 100;0;0 1.97 True Other ENSG00000088256 ENSG00000088256 HGNC:4379 GNA14 gene GNA14 Expert Review Red;Expert list Vascular Malformations SuperPanel Cardiovascular disorders Other Tufted angioma;Anastomosing hemangioma;vascular tumours Abnormal vascular morphology HP:0025015 31423605;31707589;27476652 False 1 100;0;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 ENSG00000156049 ENSG00000156049 HGNC:4382 GNAQ gene GNAQ Expert Review Red;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 1 100;0;0 1.97 True ENSG00000156052 ENSG00000156052 HGNC:4390 GNB2 gene GNB2 Expert Review Red;Literature Vascular Malformations SuperPanel Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Sturge-Weber syndrome, somatic, mosaic Abnormal vascular morphology HP:0025015 34124757 False 1 0;0;100 1.97 True Other ENSG00000172354 ENSG00000172354 HGNC:4398 HRAS gene HRAS Expert Review Red;Expert list Vascular Malformations SuperPanel Cardiovascular disorders Other Extracranial arteriovenous malformations;Vascular malformation/overgrowth syndromes Abnormal vascular morphology HP:0025015 31637524;31160609;30208313 False 1 100;0;0 1.97 True Other ENSG00000174775 ENSG00000174775 HGNC:5173 KDR gene KDR Expert list Vascular Malformations SuperPanel Cardiovascular disorders Other "Hemangioma, capillary infantile, somatic, MIM# 602089" Abnormal vascular morphology HP:0025015 11807987;18931684 False 1 0;0;100 1.97 False ENSG00000128052 ENSG00000128052 HGNC:6307 KEL gene KEL Expert Review Red;Literature Vascular Malformations SuperPanel Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted vein of Galen aneurysm, MONDO:0015196 Abnormal vascular morphology HP:0025015 30578106;37978175 False 1 0;0;100 1.97 True ENSG00000197993 ENSG00000197993 HGNC:6308 KRAS gene KRAS Expert Review Red;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 1 100;0;0 1.97 True Other ENSG00000133703 ENSG00000133703 HGNC:6407 LATS1 gene LATS1 Literature;Literature Vascular Malformations SuperPanel Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted cerebral cavernous malformations MONDO:0031037 Abnormal vascular morphology HP:0025015 35986120 False 1 0;0;100 1.97 False ENSG00000131023 ENSG00000131023 HGNC:6514 MAP2K1 gene MAP2K1 Expert Review Red;Expert list Vascular Malformations SuperPanel Cardiovascular disorders Other Intramuscular fast-flow vascular anomaly;Arteriovenous malformation Abnormal vascular morphology HP:0025015 31486960;29461977;28190454 False 1 100;0;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 ENSG00000169032 ENSG00000169032 HGNC:6840 MAP3K3 gene MAP3K3 Expert Review Red;Expert list Vascular Malformations SuperPanel Cardiovascular disorders Other Verrucous venous malformation Abnormal vascular morphology HP:0025015 10700190;25728774 False 1 100;0;0 1.97 True ENSG00000198909 ENSG00000198909 HGNC:6855 MET gene MET Expert list Vascular Malformations SuperPanel Cardiovascular disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Abnormal vascular morphology HP:0025015 18564920 False 1 0;0;0 1.97 False ENSG00000105976 ENSG00000105976 HGNC:7029 MPI gene MPI Expert list Vascular Malformations SuperPanel Cardiovascular disorders BIALLELIC, autosomal or pseudoautosomal Abnormal vascular morphology HP:0025015 False 1 0;0;0 1.97 False ENSG00000178802 ENSG00000178802 HGNC:7216 MRVI1 gene MRVI1 Expert Review Red;NHS GMS;Expert Review Red;Genomics England PanelApp Vascular Malformations SuperPanel Cardiovascular disorders Unknown Abnormal vascular morphology HP:0025015 False 1 0;0;100 1.97 True ENSG00000072952 ENSG00000072952 HGNC:7237 MTOR gene MTOR Expert Review Red;Expert list Vascular Malformations SuperPanel Cardiovascular disorders Other Smith-Kingsmore syndrome 616638;Focal cortical dysplasia, type II, somatic 607341 Abnormal vascular morphology HP:0025015 28892148;29174369 False 1 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 MYH11 gene MYH11 Expert Review Red;Genomics England PanelApp Vascular Malformations SuperPanel Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Aortic aneurysm, familial thoracic 4, 132900;moyamoya-like angiopath Abnormal vascular morphology HP:0025015 16444274;32081817;29263223;27367753 False 1 0;0;100 1.97 True ENSG00000133392 ENSG00000133392 HGNC:7569 NRAS gene NRAS Expert Review Red;Expert list Vascular Malformations SuperPanel Cardiovascular disorders Other Kaposiform lymphangiomatosis;Sporadic vascular malformation Abnormal vascular morphology HP:0025015 30542204;29461977 False 1 100;0;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 ENSG00000213281 ENSG00000213281 HGNC:7989 PIK3R1 gene PIK3R1 Expert Review Red;Expert list Vascular Malformations SuperPanel Cardiovascular disorders Other capillary and lymphatic malformation Abnormal vascular morphology HP:0025015 29174369 False 1 0;0;100 1.97 True ENSG00000145675 ENSG00000145675 HGNC:8979 PIK3R2 gene PIK3R2 Expert Review Red;Expert list Vascular Malformations SuperPanel Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 603387 Abnormal vascular morphology HP:0025015 22729224;28502725 False 1 0;0;100 1.97 True ENSG00000105647 ENSG00000105647 HGNC:8980 PTPN11 gene PTPN11 Expert Review Red;Expert list Vascular Malformations SuperPanel Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown LEOPARD syndrome 1 151100;Noonan syndrome 1 163950;cystic hygroma Abnormal vascular morphology HP:0025015 27193571;24939587;29907801 False 1 0;0;100 1.97 True ENSG00000179295 ENSG00000179295 HGNC:9644 PTPN11 gene PTPN11 Expert Review Red;Genomics England PanelApp;NHS GMS Vascular Malformations SuperPanel Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Noonan syndrome;Noonan syndrome with lentigines (LEOPARD) Abnormal vascular morphology HP:0025015 Mosaic case series shortly to be published by Kinsler group False 1 0;0;100 1.97 True ENSG00000179295 ENSG00000179295 HGNC:9644 PTPN14 gene PTPN14 Expert Review Red;Expert list Vascular Malformations SuperPanel Cardiovascular disorders BIALLELIC, autosomal or pseudoautosomal Choanal atresia and lymphedema 613611 Abnormal vascular morphology HP:0025015 22233626;29932521 False 1 0;0;100 1.97 True ENSG00000152104 ENSG00000152104 HGNC:9647 SOS1 gene SOS1 Expert Review Red;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 1 0;0;100 1.97 True ENSG00000115904 ENSG00000115904 HGNC:11187 TTR gene TTR Emory Genetics Laboratory;UKGTN;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;Expert Review Red Vascular Malformations SuperPanel Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Amyloidosis, hereditary, transthyretin-related 105210;Carpal tunnel syndrome, familial 115430;Dystransthyretinemic hyperthyroxinemia 145680" Abnormal vascular morphology HP:0025015 31118583;30120737;31131842;31111153;30878017 False 1 0;0;0 1.97 False ENSG00000118271 ENSG00000118271 HGNC:12405 ZNHIT3 gene ZNHIT3 Other;Expert Review Red Vascular Malformations SuperPanel Cardiovascular disorders BIALLELIC, autosomal or pseudoautosomal PEHO syndrome, 260565 Abnormal vascular morphology HP:0025015 28335020 False 1 0;0;0 1.97 False ENSG00000108278 ENSG00000273611 HGNC:12309