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;Royal Melbourne Hospital Vascular Malformations_Germline 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 16542389 False 3 100;0;0 1.12 True ENSG00000139567 ENSG00000139567 HGNC:175 AKT3 gene AKT3 Expert Review;Expert Review Green Vascular Malformations_Germline Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome (615937) 23745724;22729224 False 3 100;0;0 1.12 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 ATM gene ATM Expert list;Expert Review Green Vascular Malformations_Germline Cardiovascular disorders BIALLELIC, autosomal or pseudoautosomal "Ataxia-telangiectasia, MIM# 208900" False 3 100;0;0 1.12 True ENSG00000149311 ENSG00000149311 HGNC:795 ELMO2 gene ELMO2 Expert Review Green;Royal Melbourne Hospital;Victorian Clinical Genetics Services Vascular Malformations_Germline Cardiovascular disorders BIALLELIC, autosomal or pseudoautosomal Vascular malformation, primary intraosseous, MIM#606893 27476657 False 3 100;0;0 1.12 True ENSG00000062598 ENSG00000062598 HGNC:17233 ENG gene ENG Expert Review Green;Royal Melbourne Hospital Vascular Malformations_Germline 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) 16542389 False 3 100;0;0 1.12 True ENSG00000106991 ENSG00000106991 HGNC:3349 EPHB4 gene EPHB4 Expert Review Green;Royal Melbourne Hospital Vascular Malformations_Germline Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Capillary malformation-arteriovenous malformation 2, MIM#618196 27400125;28687708;29444212;29905864;30578106;30819650 False 3 100;0;0 1.12 True ENSG00000196411 ENSG00000196411 HGNC:3395 GDF2 gene GDF2 Expert Review Green;Royal Melbourne Hospital Vascular Malformations_Germline Cardiovascular disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Telangiectasia, hereditary hemorrhagic, type 5 615506;pulmonary arteriovenous malformations 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 1.12 True ENSG00000128802 ENSG00000263761 HGNC:4217 GLMN gene GLMN Expert Review Green;Royal Melbourne Hospital Vascular Malformations_Germline Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown "Glomuvenous malformations, MIM# 138000" 23375657;30460983;24961656 False 3 100;0;0 1.12 True ENSG00000174842 ENSG00000174842 HGNC:14373 KRIT1 gene KRIT1 Expert Review Green;Royal Melbourne Hospital;Victorian Clinical Genetics Services Vascular Malformations_Germline 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 29593473;16571644 False 3 100;0;0 1.12 True ENSG00000001631 ENSG00000001631 HGNC:1573 PDGFRB gene PDGFRB Expert Review Green;Literature Vascular Malformations_Germline Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted aneurysm;scoliosis;atrophic skin;stroke;infantile myofibromatosis PMID: 33683022;32291752 False 3 100;0;0 1.12 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 PIK3CA gene PIK3CA Expert Review Green;Royal Melbourne Hospital Vascular Malformations_Germline Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Congenital Lipomatous Overgrowth, Vascular Malformations, and Epidermal Nevi;Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome MIM#602501 22729224;23246288 False 3 100;0;0 1.12 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 PTEN gene PTEN Expert Review Green;Royal Melbourne Hospital Vascular Malformations_Germline Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Cowden syndrome 1, MIM# 158350;Bannayan-Riley-Ruvalcaba syndrome;Lhermitte-Duclos syndrome 32196895 False 3 100;0;0 1.12 True ENSG00000171862 ENSG00000171862 HGNC:9588 RASA1 gene RASA1 Expert Review Green;Royal Melbourne Hospital Vascular Malformations_Germline Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Capillary malformation-arteriovenous malformation, MIM# 608354 14639529;29891884;24038909;31300548 False 3 100;0;0 1.12 True ENSG00000145715 ENSG00000145715 HGNC:9871 SMAD4 gene SMAD4 Expert Review Green;Royal Melbourne Hospital Vascular Malformations_Germline Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, 175050 False 3 100;0;0 1.12 True ENSG00000141646 ENSG00000141646 HGNC:6770 SOX18 gene SOX18 Expert list;Expert Review Green Vascular Malformations_Germline Cardiovascular disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal "Hypotrichosis-lymphedema-telangiectasia syndrome, MIM# 607823;Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome, MIM# 137940" 12740761;24697860;2484451;26148450 False 3 100;0;0 1.12 True ENSG00000203883 ENSG00000203883 HGNC:11194 STAMBP gene STAMBP Expert Review Green;Royal Melbourne Hospital Vascular Malformations_Germline Cardiovascular disorders BIALLELIC, autosomal or pseudoautosomal Microcephaly-capillary malformation syndrome, MIM# 614261 23542699 False 3 100;0;0 1.12 True ENSG00000124356 ENSG00000124356 HGNC:16950 TEK gene TEK Expert Review Green;Royal Melbourne Hospital Vascular Malformations_Germline Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Venous malformations, multiple cutaneous and mucosal 600195 19888299 False 3 100;0;0 1.12 True ENSG00000120156 ENSG00000120156 HGNC:11724 CCM2 gene CCM2 Expert Review Amber;Royal Melbourne Hospital Vascular Malformations_Germline Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Cerebral cavernous malformations-2, MIM# 603284 21543988;14624391 False 2 0;100;0 1.12 True ENSG00000136280 ENSG00000136280 HGNC:21708 CDKN1C gene CDKN1C Expert list;Expert Review Amber Vascular Malformations_Germline Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Beckwith-Wiedemann syndrome 130650 False 2 0;50;50 1.12 True ENSG00000129757 ENSG00000129757 HGNC:1786 GPAA1 gene GPAA1 Expert Review Amber;Literature Vascular Malformations_Germline Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Vascular anomalies 32533362 False 2 0;100;0 1.12 True ENSG00000197858 ENSG00000197858 HGNC:4446 GPRASP1 gene GPRASP1 Expert Review Amber;Literature Vascular Malformations_Germline Cardiovascular disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Arteriovenous hemangioma/malformation, GPRASP1-related, MONDO:0001256 37787182 False 2 0;100;0 1.12 True ENSG00000198932 ENSG00000198932 HGNC:24834 KDR gene KDR Expert list;Expert Review Amber Vascular Malformations_Germline Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown {Hemangioma, capillary infantile, susceptibility to} 602089;Hemangioma, capillary infantile, somatic 602089;Cystic hygroma 30475086;7596435;24704994;18931684 False 2 0;100;0 1.12 True ENSG00000128052 ENSG00000128052 HGNC:6307 LRRC8C gene LRRC8C Expert Review Amber;Literature Vascular Malformations_Germline Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown TIMES syndrome MIM#621056 39623139 False 2 0;100;0 1.12 True Other ENSG00000171488 ENSG00000171488 HGNC:25075 PDCD10 gene PDCD10 Expert Review Amber;Royal Melbourne Hospital Vascular Malformations_Germline Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Cerebral cavernous malformations 3 False 2 0;100;0 1.12 True ENSG00000114209 ENSG00000114209 HGNC:8761 AKT1 gene AKT1 Expert list;Expert Review Red Vascular Malformations_Germline Cardiovascular disorders Other Proteus syndrome, somatic 176920;Cowden syndrome 6 615109 23246288 False 1 100;0;0 1.12 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 ARL6IP6 gene ARL6IP6 Expert Review Red;Other Vascular Malformations_Germline Cardiovascular disorders BIALLELIC, autosomal or pseudoautosomal Cutis marmorata telangiectatica congenita 31142202 False 1 0;0;100 1.12 True ENSG00000177917 ENSG00000177917 HGNC:24048 ATR gene ATR Expert list;Expert Review Red Vascular Malformations_Germline Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Cutaneous telangiectasia and cancer syndrome, familial, MIM# 614564" 22341969 False 1 0;0;100 1.12 True ENSG00000175054 ENSG00000175054 HGNC:882 BRAF gene BRAF Expert list;Expert Review Red Vascular Malformations_Germline Cardiovascular disorders Other Sporadic vascular malformations 29316280;29461977;30544177 False 1 100;0;0 1.12 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 GNA11 gene GNA11 Expert Review Red;Royal Melbourne Hospital Vascular Malformations_Germline Cardiovascular disorders Other Somatic hemangioma 30677207 False 1 100;0;0 1.12 True Other ENSG00000088256 ENSG00000088256 HGNC:4379 GNA14 gene GNA14 Expert list;Expert Review Red Vascular Malformations_Germline Cardiovascular disorders Other Tufted angioma;Anastomosing hemangioma;vascular tumours 31423605;31707589;27476652 False 1 100;0;0 1.12 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 list;Expert Review Red Vascular Malformations_Germline Cardiovascular disorders Other Sturge-Weber syndrome, somatic, mosaic 185300;Capillary malformations, congenital, 1, somatic, mosaic 163000;Phacomatosis pigmentovascularis 30920161 False 1 100;0;0 1.12 True ENSG00000156052 ENSG00000156052 HGNC:4390 HRAS gene HRAS Expert list;Expert Review Red Vascular Malformations_Germline Cardiovascular disorders Other Extracranial arteriovenous malformations;Vascular malformation/overgrowth syndromes 31637524;31160609;30208313 False 1 100;0;0 1.12 True Other ENSG00000174775 ENSG00000174775 HGNC:5173 KRAS gene KRAS Expert list;Expert Review Red Vascular Malformations_Germline Cardiovascular disorders Other Arteriovenous malformation of the brain, somatic 108010;Vascular malformation 30677207;30544177;31160609 False 1 100;0;0 1.12 True Other ENSG00000133703 ENSG00000133703 HGNC:6407 MAP2K1 gene MAP2K1 Expert list;Expert Review Red Vascular Malformations_Germline Cardiovascular disorders Other Intramuscular fast-flow vascular anomaly;Arteriovenous malformation 31486960;29461977;28190454 False 1 100;0;0 1.12 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 list;Expert Review Red Vascular Malformations_Germline Cardiovascular disorders Other Verrucous venous malformation 10700190;25728774 False 1 100;0;0 1.12 True ENSG00000198909 ENSG00000198909 HGNC:6855 MTOR gene MTOR Expert list;Expert Review Red Vascular Malformations_Germline Cardiovascular disorders Other Smith-Kingsmore syndrome 616638;Focal cortical dysplasia, type II, somatic 607341 28892148;29174369 False 1 0;100;0 1.12 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 list;Expert Review Red Vascular Malformations_Germline Cardiovascular disorders Other Kaposiform lymphangiomatosis;Sporadic vascular malformation 30542204;29461977 False 1 100;0;0 1.12 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 list;Expert Review Red Vascular Malformations_Germline Cardiovascular disorders Other capillary and lymphatic malformation 29174369 False 1 0;0;100 1.12 True ENSG00000145675 ENSG00000145675 HGNC:8979 PIK3R2 gene PIK3R2 Expert list;Expert Review Red Vascular Malformations_Germline Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 603387 22729224;28502725 False 1 0;0;100 1.12 True ENSG00000105647 ENSG00000105647 HGNC:8980 PTPN11 gene PTPN11 Expert list;Expert Review Red Vascular Malformations_Germline Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown LEOPARD syndrome 1 151100;Noonan syndrome 1 163950;cystic hygroma 27193571;24939587;29907801 False 1 0;0;100 1.12 True ENSG00000179295 ENSG00000179295 HGNC:9644 PTPN14 gene PTPN14 Expert list;Expert Review Red Vascular Malformations_Germline Cardiovascular disorders BIALLELIC, autosomal or pseudoautosomal Choanal atresia and lymphedema 613611 22233626;29932521 False 1 0;0;100 1.12 True ENSG00000152104 ENSG00000152104 HGNC:9647 SOS1 gene SOS1 Expert list;Expert Review Red Vascular Malformations_Germline Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Noonan syndrome 4 610733 29907801 False 1 0;0;100 1.12 True ENSG00000115904 ENSG00000115904 HGNC:11187