This Panel is marked as Deleted
GMS Musculoskeletal specialist test group Skeletal dysplasia
Gene: ACVR1
ACVR1 (activin A receptor type 1)
EnsemblGeneIds (GRCh38): ENSG00000115170
EnsemblGeneIds (GRCh37): ENSG00000115170
OMIM: 102576, Gene2Phenotype
ACVR1 is in 9 panels
EnsemblGeneIds (GRCh38): ENSG00000115170
EnsemblGeneIds (GRCh37): ENSG00000115170
OMIM: 102576, Gene2Phenotype
ACVR1 is in 9 panels
1 review
Tracy Lester (Genetics laboratory, Oxford UK)
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, 11:52 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Fibrodysplasia ossificans progressiva 135100
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- NHS GMS
- Phenotypes
-
- Fibrodysplasia ossificans progressiva 135100
- OMIM
- 102576
- Clinvar variants
- Variants in ACVR1
- Penetrance
- None
- Panels with this gene
-
- Thoracic aortic aneurysm or dissection (GMS)
- Intellectual disability
- Thoracic aortic aneurysm or dissection
- Iron metabolism disorders - NOT common HFE mutations
- Fetal anomalies
- DDG2P
- Skeletal dysplasia
- Autosomal recessive primary hypertrophic osteoarthropathy
- Ehlers Danlos syndrome with a likely monogenic cause
History Filter Activity
6 Mar 2019, Gel status: 4
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Eleanor Williams (Genomics England Curator)gene: ACVR1 was added gene: ACVR1 was added to GMS Musculoskeletal specialist test group Skeletal dysplasia. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: ACVR1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: ACVR1 were set to Fibrodysplasia ossificans progressiva 135100