ACVR1

activin A receptor type 1
OMIM: 102576, Gene2Phenotype

9 panels

Panel Reviews Mode of inheritance Details
9 panels

Amber ACVR1 in Autosomal recessive primary hypertrophic osteoarthropathy


Version 1.3
Signed off v.1.2 on 19 Feb 2020

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • Other
Phenotypes
  • Fibrodysplasia ossificans progressiva, 135100

Red ACVR1 in Thoracic aortic aneurysm and dissection


Version 1.3
Signed off v.1.2 on 19 Feb 2020

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • South West GLH
  • South West GLH

Red ACVR1 in Thoracic aortic aneurysm or dissection

Level 3: Connective tissue disorders and aortopathies
Level 2: Cardiovascular disorders
Version 1.112

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • South West GLH
  • Expert list

Green ACVR1 in Skeletal dysplasia

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 2.3
Signed off v.2.2 on 13 Feb 2020

Component of the following Super Panels:

  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • Fibrodysplasia ossificans progressiva 135100

    Red ACVR1 in Iron metabolism disorders


    Version 1.1
    Signed off v.1.0 on 23 Sep 2019

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • North West GLH
    • Yorkshire and North East GLH
    • NHS GMS
    • Wessex and West Midlands GLH
    Phenotypes
    • new type of IRIDA
    • IRIDA

    Red ACVR1 in Ehlers Danlos syndromes

    Level 3: Connective tissues disorders
    Level 2: Rheumatological disorders
    Version 2.2
    Signed off v.2.1 on 4 Sep 2019

    review Not set
    Sources
    • Expert list
    • Emory Genetics Laboratory
    Phenotypes
    • Connective Tissue Disorders

    Amber ACVR1 in Fetal anomalies


    Version 1.3
    Signed off v.1.2 on 17 Feb 2020

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Amber
    • PAGE DD-Gene2Phenotype
    Phenotypes
    • FIBRODYSPLASIA OSSIFICANS PROGRESSIVA

    Amber ACVR1 in DDG2P


    Version 2.3
    Signed off v.2.2 on 13 Feb 2020

    Component of the following Super Panels:

  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • DD-Gene2Phenotype
    • Expert Review Amber
    Phenotypes
    • FIBRODYSPLASIA OSSIFICANS PROGRESSIVA 135100

    Amber ACVR1 in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.3
    Signed off v.3.2 on 13 Feb 2020

    Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Amber
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Fibrodysplasia ossificans progressiva 135100