Autosomal recessive primary hypertrophic osteoarthropathy
Gene: ACVR1EnsemblGeneIds (GRCh38): ENSG00000115170
EnsemblGeneIds (GRCh37): ENSG00000115170
OMIM: 102576, Gene2Phenotype
ACVR1 is in 9 panels
1 review
Rebecca Foulger (Genomics England curator)
Added ACVR1 as an Amber gene to the 'Autosomal recessive primary hypertrophic osteoarthropathy' panel as suggested by Ellen Thomas and Anna de Burca. Although the MOI is monoallelic for FOP (MIM:135100), the Testing Criteria for Clinical Indication R167 includes individuals with unexplained digital clubbing, AND either periostosis OR pachydermia.
Sources: OtherCreated: 17 Apr 2019, 4:46 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Fibrodysplasia ossificans progressiva, 135100
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Amber
- Other
- Phenotypes
-
- Fibrodysplasia ossificans progressiva OMIM:135100
- OMIM
- 102576
- Clinvar variants
- Variants in ACVR1
- Penetrance
- None
- Panels with this gene
-
- Thoracic aortic aneurysm or dissection (GMS)
- DDG2P
- Thoracic aortic aneurysm or dissection
- Iron metabolism disorders - NOT common HFE mutations
- Intellectual disability
- Ehlers Danlos syndrome with a likely monogenic cause
- Fetal anomalies
- Autosomal recessive primary hypertrophic osteoarthropathy
- Skeletal dysplasia
History Filter Activity
Set Phenotypes
Eleanor Williams (Genomics England Curator)Phenotypes for gene: ACVR1 were changed from Fibrodysplasia ossificans progressiva, 135100 to Fibrodysplasia ossificans progressiva OMIM:135100
Entity classified by Genomics England curator
Rebecca Foulger (Genomics England curator)Gene: acvr1 has been classified as Amber List (Moderate Evidence).
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Rebecca Foulger (Genomics England curator)gene: ACVR1 was added gene: ACVR1 was added to Autosomal recessive primary hypertrophic osteoarthropathy. Sources: Other Mode of inheritance for gene: ACVR1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: ACVR1 were set to Fibrodysplasia ossificans progressiva, 135100