Skeletal dysplasia
Gene: ACVR1

ACVR1 (activin A receptor type 1)
EnsemblGeneIds (GRCh38): ENSG00000115170
EnsemblGeneIds (GRCh37): ENSG00000115170
OMIM: 102576, Gene2Phenotype
ACVR1 is in 9 panels

4 reviews

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high evidence)

congenital malformation of the great toes and progressive heterotopic ossification. Is toes malformation sufficient? Yes - Listed in disorganized development of skeletal components gp of SD. AD; Review on behalf of Tracy Lester
Created: 6 Mar 2019, 11:44 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Fibrodysplasia ossificans progressiva 135100

Created: 6 Mar 2019, 11:44 a.m.

Panel version: 1.147

Eleanor Williams (Genomics England Curator)

I don't know

This gene was part of an initial gene list collated by Tracy Lester, Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, February 2019 on behalf of the GMS Musculoskeletal Specialist Group; Gene symbol submitted: ACVR1; Initial rating suggestion: green
Created: 6 Mar 2019, 11:36 a.m.

Created: 6 Mar 2019, 11:36 a.m.

Panel version: 1.146

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with phenotype in G2P. Numerous variants reported in this phenotype.
Created: 13 Jul 2016, 7:30 a.m.

Comment on list classification: Tier 1 gene for skeletal dysplasia (Ana Beleza)
Created: 8 Jul 2016, 1:37 p.m.

Created: 8 Jul 2016, 1:37 p.m.

Panel version: 0.364

Ana Beleza (Bristol Regional Genetics Service)

Green List (high evidence)

Tier 1
Created: 15 Jun 2016, 2:01 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Fibrodysplasia ossificans progressiva 135100

Variants in this GENE are reported as part of current diagnostic practice

Created: 15 Jun 2016, 2:01 p.m.

Panel version: 0.4

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

NHS GMS
Expert Review Green

Phenotypes

Fibrodysplasia ossificans progressiva 135100

OMIM

102576

Clinvar variants

Variants in ACVR1

Penetrance

Complete

Panels with this gene

History Filter Activity

6 May 2019, Gel status: 4

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Added phenotypes Fibrodysplasia ossificans progressiva 135100 for gene: ACVR1

6 Mar 2019, Gel status: 3

Added New Source, Status Update

Eleanor Williams (Genomics England Curator)

Source NHS GMS was added to ACVR1. Rating Changed from Green List (high evidence) to Green List (high evidence)

9 Aug 2016, Gel status: 4