ACVR1

activin A receptor type 1
OMIM: 102576, Gene2Phenotype

10 panels

Panel Reviews Mode of inheritance Details
10 panels
Amber ACVR1 in Autosomal recessive primary hypertrophic osteoarthropathy


Version 1.12
Latest signed off version: v1.5 (11 Nov 2020)

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • Other
Phenotypes
  • Fibrodysplasia ossificans progressiva OMIM:135100
Red ACVR1 in Thoracic aortic aneurysm or dissection (GMS)


Version 3.8
Latest signed off version: v3.0 (22 Mar 2023)

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 1.127

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 4.50
Latest signed off version: v4.0 (22 Mar 2023)

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 - NOT common HFE mutations


    Version 2.4
    Latest signed off version: v2.0 (22 Mar 2023)

    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
    • Fibrodysplasia ossificans progressiva OMIM:135100
    Red ACVR1 in Ehlers Danlos syndrome with a likely monogenic cause

    Level 3: Connective tissues disorders
    Level 2: Rheumatological disorders
    Version 3.11
    Latest signed off version: v3.0 (22 Mar 2023)

    review Not set
    Sources
    • Emory Genetics Laboratory
    • Expert list
    Phenotypes
    • Connective Tissue Disorders
    Amber ACVR1 in Fetal anomalies


    Version 3.135
    Latest signed off version: v3.0 (22 Mar 2023)

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Amber
    • PAGE DD-Gene2Phenotype
    Phenotypes
    • FIBRODYSPLASIA OSSIFICANS PROGRESSIVA
    Green ACVR1 in DDG2P


    Version 3.79
    Latest signed off version: v3.1 (22 Mar 2023)

    Component of the following Super Panels:

  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • DD-Gene2Phenotype
    Phenotypes
    • FIBRODYSPLASIA OSSIFICANS PROGRESSIVA 135100
    Amber ACVR1 in Intellectual disability - microarray and sequencing

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 5.453
    Latest signed off version: v5.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Amber
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Fibrodysplasia ossificans progressiva 135100
    Green ACVR1 in Severe Paediatric Disorders


    Version 1.182

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Fibrodysplasia ossificans progressiva, 135100