Skeletal dysplasia
Gene: ACVR1
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 LesterCreated: 6 Mar 2019, 11:44 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Fibrodysplasia ossificans progressiva 135100
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: greenCreated: 6 Mar 2019, 11:36 a.m.
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.
Tier 1Created: 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
Added phenotypes Fibrodysplasia ossificans progressiva 135100 for gene: ACVR1
Source NHS GMS was added to ACVR1. Rating Changed from Green List (high evidence) to Green List (high evidence)
Promoted to version 1 9th August 2016
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
Phenotypes for ACVR1 were set to Fibrodysplasia ossificans progressiva 135100
Mode of inheritance for ACVR1 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
This gene has been classified as Green List (High Evidence).
ACVR1 was added to Unexplained skeletal dysplasiapanel. Sources:
ACVR1 was created by sleigh