ACVRL1

activin A receptor like type 1
OMIM: 601284, Gene2Phenotype

10 panels

Panel Reviews Mode of inheritance Details
10 panels

Red ACVRL1 in ClinGen_Familial thoracic aortic aneurysm and aortic dissection


Version 0.10

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 2.8
Signed off v.2.2 on 2 Mar 2020

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Yorkshire and North East GLH
  • NHS GMS
  • Expert Review Green
  • Emory Genetics Laboratory
  • UKGTN
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Telangiectasia, hereditary hemorrhagic, type 2 600376

Red ACVRL1 in Familial pulmonary fibrosis

Level 3: Interstitial lung disorders
Level 2: Respiratory disorders
Version 1.13

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 2.6
Signed off v.2.2 on 2 Mar 2020

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 1.156

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 1.4
Signed off v.1.3 on 15 Oct 2020

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Hereditary haemorrhagic telengiectasia

Green ACVRL1 in Pulmonary arterial hypertension

Level 3: Pulmonary heart disease
Level 2: Cardiovascular disorders
Version 2.9
Signed off v.2.2 on 2 Mar 2020

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 1.19
Signed off v.1.2 on 3 Mar 2020

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

Red ACVRL1 in Fetal anomalies


Version 1.179
Signed off v.1.92 on 21 Aug 2020

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • PAGE Additional Gene List
Phenotypes
  • Telangiectasia, hereditary hemorrhagic, type 2 600376

Green ACVRL1 in Severe Paediatric Disorders


Version 1.43

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