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;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN Hereditary haemorrhagic telangiectasia Vascular lung disorders Respiratory disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Telangiectasia, hereditary hemorrhagic, type 2 600376;epistaxis;telangiectasia;hepatic arteriovenous malformation;pulmonary arteriovenous malformation;cerebral pulmonary arteriovenous malformation;pulmonary arterial hypertension 8640225;16155196;14684682 False 3 100;0;0 3.5 False ENSG00000139567 ENSG00000139567 HGNC:175 ENG gene ENG Eligibility statement prior genetic testing;Emory Genetics Laboratory;Expert Review Green;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN Hereditary haemorrhagic telangiectasia Vascular lung disorders Respiratory disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Telangiectasia, hereditary hemorrhagic, type 1, 187300;Epistaxis (HP:0000421);Nasal mucosa telangiectasia (HP:0000434);Lip telangiectasia (HP:0000214);Tongue telangiectasia (HP:0000227);Palate telangiectasia (HP:0002707);Finger pad telangiectasia (pulp not nail side);Gastrointestinal telangiectasia (HP:0002604);Arteriovenous malformation (HP:0100026);Cerebral arteriovenous malformation (HP:0002408);Pulmonary arteriovenous malformation (HP:0006548);Hepatic arteriovenous malformation (HP:0006574;);Spinal arteriovenous malformation (HP:0002390) 7894484;16155196;14684682;22192717;21967607;28989145 False 3 100;0;0 3.5 False ENSG00000106991 ENSG00000106991 HGNC:3349 EPHB4 gene EPHB4 Expert Review Green;Other Hereditary haemorrhagic telangiectasia Vascular lung disorders Respiratory disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Capillary malformation-arteriovenous malformation 2, OMIM:618196;Capillary malformation, epistaxis, telangiectasia, cerebral AVM 28687708;28730721;30760892 False 3 67;33;0 3.5 False ENSG00000196411 ENSG00000196411 HGNC:3395 GDF2 gene GDF2 Emory Genetics Laboratory;Expert Review;Expert Review Green;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN Hereditary haemorrhagic telangiectasia Vascular lung disorders Respiratory disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Telangiectasia, hereditary hemorrhagic, type 5 OMIM:615506;telangiectasia, hereditary hemorrhagic, type 5 MONDO:0014217 34904380;23972370;27081547;25674101;32573726;32669404;33834622;https://doi.org/10.1164/ajrccm-conference.2020.201.1_MeetingAbstracts.A6356 False 3 0;75;25 3.5 False ENSG00000128802 ENSG00000263761 HGNC:4217 RASA1 gene RASA1 Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Hereditary haemorrhagic telangiectasia Vascular lung disorders Respiratory disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Capillary malformation-arteriovenous malformation 608354" 18446851;27081547;29891884;32900839 False 3 67;0;33 3.5 True ENSG00000145715 ENSG00000145715 HGNC:9871 SMAD4 gene SMAD4 Eligibility statement prior genetic testing;Emory Genetics Laboratory;Expert Review Green;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN Hereditary haemorrhagic telangiectasia Vascular lung disorders Respiratory disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, 175050 15031030 False 3 100;0;0 3.5 False ENSG00000141646 ENSG00000141646 HGNC:6770 BMPR2 gene BMPR2 Expert Review Amber;NHS GMS Hereditary haemorrhagic telangiectasia Vascular lung disorders Respiratory disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Pulmonary hypertension, familial primary, 1, with or without HHT, 178600 18792970 False 2 0;50;50 3.5 False ENSG00000204217 ENSG00000204217 HGNC:1078 ATM gene ATM Expert Review Red;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Hereditary haemorrhagic telangiectasia Vascular lung disorders Respiratory disorders BIALLELIC, autosomal or pseudoautosomal Ataxia-telangiectasia, OMIM:208900 6417247;2666519;2212727 False 1 0;0;100 3.5 False ENSG00000149311 ENSG00000149311 HGNC:795 ATR gene ATR Expert Review Red;Radboud University Medical Center, Nijmegen Hereditary haemorrhagic telangiectasia Vascular lung disorders Respiratory disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cutaneous telangiectasia and cancer syndrome, familial, 614564 (biallelic) 6417247;2666519;2212727 False 1 0;0;100 3.5 False ENSG00000175054 ENSG00000175054 HGNC:882 FOXF1 gene FOXF1 Expert Review Red;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Hereditary haemorrhagic telangiectasia Vascular lung disorders Respiratory disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Alveolar capillary dysplasia with misalignment of pulmonary veins 265380 27071622;26462560;27071622 False 1 0;0;100 3.5 False ENSG00000103241 ENSG00000103241 HGNC:3809 KRIT1 gene KRIT1 Emory Genetics Laboratory;Expert Review Red;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Hereditary haemorrhagic telangiectasia 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 3.5 False ENSG00000001631 ENSG00000001631 HGNC:1573 MRE11 gene MRE11 Expert Review Red;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Hereditary haemorrhagic telangiectasia Vascular lung disorders Respiratory disorders BIALLELIC, autosomal or pseudoautosomal Ataxia-telangiectasia-like disorder, 604391 6417247;2666519;2212727 False 1 0;0;100 3.5 False ENSG00000020922 ENSG00000020922 HGNC:7230 PIK3CA gene PIK3CA Expert Review Red;UKGTN Hereditary haemorrhagic telangiectasia Vascular lung disorders Respiratory disorders Unknown Congenital Lipomatous Overgrowth, Vascular Malformations, and Epidermal Nevi;Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome 27030594;27030595 False 1 0;0;100 3.5 False ENSG00000121879 ENSG00000121879 HGNC:8975 SOX18 gene SOX18 Expert Review Red;Radboud University Medical Center, Nijmegen Hereditary haemorrhagic telangiectasia Vascular lung disorders Respiratory disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal "Hypotrichosis-lymphedema-telangiectasia syndrome, 607823;Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome 137940" False 1 0;0;100 3.5 False ENSG00000203883 ENSG00000203883 HGNC:11194 TEK gene TEK Expert Review Red;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Hereditary haemorrhagic telangiectasia Vascular lung disorders Respiratory disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Venous malformations, multiple cutaneous and mucosal 600195 27519652 False 1 0;0;100 3.5 False ENSG00000120156 ENSG00000120156 HGNC:11724