This Panel is marked as Deleted
GMS Musculoskeletal specialist test group Skeletal dysplasia
Gene: ATP6V0A2
ATP6V0A2 (ATPase H+ transporting V0 subunit a2)
EnsemblGeneIds (GRCh38): ENSG00000185344
EnsemblGeneIds (GRCh37): ENSG00000185344
OMIM: 611716, Gene2Phenotype
ATP6V0A2 is in 14 panels
EnsemblGeneIds (GRCh38): ENSG00000185344
EnsemblGeneIds (GRCh37): ENSG00000185344
OMIM: 611716, Gene2Phenotype
ATP6V0A2 is in 14 panels
1 review
Tracy Lester (Genetics laboratory, Oxford UK)
Listed in OI and decreasing bone density gp of SD. >3 cases reported.; Review on behalf of Tracy LesterCreated: 6 Mar 2019, 11:52 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Cutis laxa, autosomal recessive, type IIA 219200
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- NHS GMS
- Phenotypes
-
- Cutis laxa, autosomal recessive, type IIA 219200
- OMIM
- 611716
- Clinvar variants
- Variants in ATP6V0A2
- Penetrance
- None
- Panels with this gene
-
- Skeletal dysplasia
- Ehlers Danlos syndrome with a likely monogenic cause
- Childhood onset dystonia, chorea or related movement disorder
- Rare genetic inflammatory skin disorders
- Pneumothorax - familial
- Likely inborn error of metabolism
- Congenital disorders of glycosylation
- Thoracic aortic aneurysm or dissection (GMS)
- Osteogenesis imperfecta
- Intellectual disability
- Early onset or syndromic epilepsy
- Thoracic aortic aneurysm or dissection
- Undiagnosed metabolic disorders
- Fetal anomalies
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: ATP6V0A2 was added gene: ATP6V0A2 was added to GMS Musculoskeletal specialist test group Skeletal dysplasia. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: ATP6V0A2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ATP6V0A2 were set to Cutis laxa, autosomal recessive, type IIA 219200