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 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 1.64 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 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 1.64 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 1.64 False ENSG00000156150 ENSG00000156150 HGNC:449 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 1.64 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 1.64 True ENSG00000177917 ENSG00000177917 HGNC:24048 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 1.64 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 1.64 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 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 1.64 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 1.64 False ENSG00000070831 ENSG00000070831 HGNC:1736 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 1.64 True ENSG00000171316 ENSG00000171316 HGNC:20626 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 1.64 True Other ENSG00000104218 ENSG00000104218 HGNC:26193 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 1.64 True ENSG00000183580 ENSG00000183580 HGNC:13604 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 1.64 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 1.64 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 1.64 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 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 1.64 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 1.64 True Other ENSG00000172354 ENSG00000172354 HGNC:4398 HGF gene HGF Expert list Vascular Malformations SuperPanel Cardiovascular disorders Unknown Abnormal vascular morphology HP:0025015 18564920 False 1 0;0;0 1.64 False ENSG00000019991 ENSG00000019991 HGNC:4893 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 1.64 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 1.64 False ENSG00000128052 ENSG00000128052 HGNC:6307 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 1.64 True Other ENSG00000133703 ENSG00000133703 HGNC:6407 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 1.64 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 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 1.64 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 1.64 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 1.64 False ENSG00000178802 ENSG00000178802 HGNC:7216 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 1.64 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 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 1.64 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 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 1.64 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 1.64 True ENSG00000105647 ENSG00000105647 HGNC:8980 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 1.64 True ENSG00000179295 ENSG00000179295 HGNC:9644 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 1.64 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 1.64 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 1.64 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 1.64 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 1.64 False ENSG00000108278 ENSG00000273611 HGNC:12309