ACVRL1

activin A receptor like type 1
OMIM: 601284, Gene2Phenotype

11 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 11 panels
Red ACVRL1 in ClinGen_Familial thoracic aortic aneurysm and aortic dissection Version 0.11	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources ClinGen Expert Review Red Phenotypes Familial thoracic aortic aneurysm and aortic dissection
Green ACVRL1 in Cerebral vascular malformations Level 3: Cerebrovascular disorders Level 2: Neurology and neurodevelopmental disorders Version 3.16 Latest signed off version: v3.0 (22 Mar 2023)	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Yorkshire and North East GLH NHS GMS Expert Review Green UKGTN Emory Genetics Laboratory Radboud University Medical Center, Nijmegen Phenotypes Telangiectasia, hereditary hemorrhagic, type 2, OMIM 600376
Red ACVRL1 in Familial pulmonary fibrosis Level 3: Interstitial lung disorders Level 2: Respiratory disorders Version 1.31	review	Not set	Sources Expert Review Red Emory Genetics Laboratory Phenotypes Telangiectasia, hereditary hemorrhagic, type 2
Green ACVRL1 in Hereditary haemorrhagic telangiectasia Level 3: Vascular lung disorders Level 2: Respiratory disorders Version 3.6 Latest signed off version: v3.0 (30 Nov 2022)	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources NHS GMS Eligibility statement prior genetic testing Expert Review Green Emory Genetics Laboratory UKGTN Radboud University Medical Center, Nijmegen UKGTN Emory Genetics Laboratory Radboud University Medical Center, Nijmegen Phenotypes Telangiectasia, hereditary hemorrhagic, type 2 600376 epistaxis telangiectasia hepatic arteriovenous malformation pulmonary arteriovenous malformation cerebral pulmonary arteriovenous malformation pulmonary arterial hypertension
Green ACVRL1 in Inherited bleeding disorders Level 3: Haemostasis disorders Level 2: Haematological and immunological disorders Version 1.178	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Phenotypes Telangiectasia, hereditary hemorrhagic, type 2, 600376 Bleeding disorder
Green ACVRL1 in Vascular skin disorders Version 1.63 Latest signed off version: v1.3 (15 Oct 2020)	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources London North GLH NHS GMS Expert Review Green Phenotypes Telangiectasia, hereditary hemorrhagic, type 2, OMIM:600376
Green ACVRL1 in Pulmonary arterial hypertension Level 3: Pulmonary heart disease Level 2: Cardiovascular disorders Version 3.5 Latest signed off version: v3.0 (30 Nov 2022)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources NHS GMS Expert list Expert Review Green UKGTN Emory Genetics Laboratory Eligibility statement prior genetic testing Literature Phenotypes Telangiectasia, hereditary hemorrhagic, type 2, 600376 Heritable pulmonary arterial hypertension HPAH
Green ACVRL1 in Bleeding and platelet disorders Version 3.10 Latest signed off version: v3.0 (22 Mar 2023)	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources North West GLH Yorkshire and North East GLH London South GLH NHS GMS Expert Review Green Wessex and West Midlands GLH Phenotypes 600376 Telangiectasia, hereditary hemorrhagic, type 2
Amber ACVRL1 in Fetal anomalies Version 3.169 Latest signed off version: v3.0 (22 Mar 2023)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber PAGE Additional Gene List Phenotypes Telangiectasia, hereditary hemorrhagic, type 2, OMIM:600376
Red ACVRL1 in Rare syndromic craniosynostosis or isolated multisuture synostosis Level 3: Craniosynostosis syndromes Level 2: Skeletal disorders Version 4.180 Latest signed off version: v4.0 (22 Mar 2023)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Literature Phenotypes craniosynostosis, MONDO:0015469
Green ACVRL1 in Severe Paediatric Disorders Version 1.184	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Next Generation Children Project Expert Review Green Expert list Phenotypes Telangiectasia, hereditary hemorrhagic, type 2, 600376