Osteogenesis imperfecta
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
2 reviews
Meena Balasubramanian (Sheffield Children's NHS Foundation Trust)
Rebecca Pollitt (Sheffield Diagnostic Genetics Service ; University of Sheffield)
There is no evidence to support a causal role of this gene in this particular diseaseCreated: 6 Oct 2015, 11:10 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
cutis laxa
Publications
Details
- Sources
-
- Emory Genetics Laboratory
- Phenotypes
-
- Osteogenesis Imperfecta and Decreased Bone Density
- skeletal dysplasias
- OMIM
- 611716
- Clinvar variants
- Variants in ATP6V0A2
- Penetrance
- Complete
- Panels with this gene
-
- Intellectual disability
- Fetal anomalies
- Rare genetic inflammatory skin disorders
- Pneumothorax - familial
- Likely inborn error of metabolism
- Undiagnosed metabolic disorders
- Congenital disorders of glycosylation
- Thoracic aortic aneurysm or dissection (GMS)
- Osteogenesis imperfecta
- Childhood onset dystonia, chorea or related movement disorder
- Thoracic aortic aneurysm or dissection
- Skeletal dysplasia
- Early onset or syndromic epilepsy
- Ehlers Danlos syndrome with a likely monogenic cause
History Filter Activity
23 Jun 2015, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)ATP6V0A2 was added to Osteogenesis Imperfecta panel. Sources: Emory Genetics Laboratory