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 Eligibility statement prior genetic testing;Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Familial and multiple pulmonary arteriovenous malformations Vascular lung disorders Respiratory disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Telangiectasia, hereditary hemorrhagic, type 2 600376" 8640225;16155196 False 3 100;0;0 0.57 True ENSG00000139567 ENSG00000139567 HGNC:175 ENG gene ENG Eligibility statement prior genetic testing;Emory Genetics Laboratory;Expert Review Green;Radboud University Medical Center, Nijmegen;UKGTN Familial and multiple pulmonary arteriovenous malformations Vascular lung disorders Respiratory disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Telangiectasia, hereditary hemorrhagic, type 1 187300" 7894484 False 3 100;0;0 0.57 True ENSG00000106991 ENSG00000106991 HGNC:3349 SMAD4 gene SMAD4 Eligibility statement prior genetic testing;Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Familial and multiple pulmonary arteriovenous malformations Vascular lung disorders Respiratory disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome 175050" False 3 100;0;0 0.57 True ENSG00000141646 ENSG00000141646 HGNC:6770 ATM gene ATM Expert Review Red;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Familial and multiple pulmonary arteriovenous malformations Vascular lung disorders Respiratory disorders BIALLELIC, autosomal or pseudoautosomal Ataxia-telangiectasia, 208900 6417247;2666519;2212727 False 1 0;0;100 0.57 True ENSG00000149311 ENSG00000149311 HGNC:795 ATR gene ATR Expert Review Red;Radboud University Medical Center, Nijmegen Familial and multiple pulmonary arteriovenous malformations Vascular lung disorders Respiratory disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Seckel syndrome 1, 210600; Cutaneous telangiectasia and cancer syndrome, familial, 614564 6417247;2666519;2212727 False 1 0;0;100 0.57 True ENSG00000175054 ENSG00000175054 HGNC:882 FOXF1 gene FOXF1 Expert Review Red;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Familial and multiple pulmonary arteriovenous malformations Vascular lung disorders Respiratory disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Alveolar capillary dysplasia with misalignment of pulmonary veins 265380" 27071622 False 1 0;0;100 0.57 True ENSG00000103241 ENSG00000103241 HGNC:3809 GDF2 gene GDF2 Emory Genetics Laboratory;Expert Review Red;Radboud University Medical Center, Nijmegen;UKGTN Familial and multiple pulmonary arteriovenous malformations Vascular lung disorders Respiratory disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Telangiectasia, hereditary hemorrhagic, type 5 615506 23972370 False 1 0;0;100 0.57 True ENSG00000128802 ENSG00000263761 HGNC:4217 KRIT1 gene KRIT1 Emory Genetics Laboratory;Expert Review Red;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Familial and multiple pulmonary arteriovenous malformations Vascular lung disorders Respiratory disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Cavernous malformations of CNS and retina 116860;Cerebral cavernous malformations-1 116860;Hyperkeratotic cutaneous capillary-venous malformations associated with cerebral capillary malformations 116860" False 1 0;0;100 0.57 True ENSG00000001631 ENSG00000001631 HGNC:1573 MRE11 gene MRE11 Expert Review Red;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Familial and multiple pulmonary arteriovenous malformations Vascular lung disorders Respiratory disorders BIALLELIC, autosomal or pseudoautosomal Ataxia-telangiectasia-like disorder, 604391 6417247;2666519;2212727 False 1 0;0;100 0.57 True ENSG00000020922 ENSG00000020922 HGNC:7230 PIK3CA gene PIK3CA Expert Review Red;UKGTN Familial and multiple pulmonary arteriovenous malformations Vascular lung disorders Respiratory disorders Congenital Lipomatous Overgrowth, Vascular Malformations, and Epidermal Nevi; Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome 27030594;27030595 False 1 0;0;100 0.57 True ENSG00000121879 ENSG00000121879 HGNC:8975 RASA1 gene RASA1 Emory Genetics Laboratory;Expert Review Red;Illumina TruGenome Clinical Sequencing Services Familial and multiple pulmonary arteriovenous malformations Vascular lung disorders Respiratory disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Capillary malformation-arteriovenous malformation 608354" False 1 0;0;100 0.57 True ENSG00000145715 ENSG00000145715 HGNC:9871 SOX18 gene SOX18 Radboud University Medical Center, Nijmegen Familial and multiple pulmonary arteriovenous malformations Vascular lung disorders Respiratory disorders Hypotrichosis-lymphedema-telangiectasia syndrome, 607823 False 1 0;0;100 0.57 False ENSG00000203883 ENSG00000203883 HGNC:11194 TEK gene TEK Expert Review Red;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Familial and multiple pulmonary arteriovenous malformations Vascular lung disorders Respiratory disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Venous malformations, multiple cutaneous and mucosal 600195 27519652 False 1 0;0;100 0.57 True ENSG00000120156 ENSG00000120156 HGNC:11724