This Panel is marked as Retired
Epileptic encephalopathy
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
Sarah Leigh (Genomics England Curator)
Associated with phenotype in OMIM, not in G2P. At least 4 homozygous variants reported in unrelated cases of Cutis laxa, autosomal recessive, type IIA 219200 (this phenotype includes delayed mental development, mental retardation and seizures). Speech delay reported in Wrinkly skin syndrome 278250Created: 14 Dec 2017, 3:40 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Cutis laxa, autosomal recessive, type IIA 219200; Wrinkly skin syndrome 278250
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Literature
- Phenotypes
-
- Cutis laxa, autosomal recessive, type IIA 219200
- Wrinkly skin syndrome 278250
- OMIM
- 611716
- Clinvar variants
- Variants in ATP6V0A2
- Penetrance
- None
- Publications
- 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
14 Dec 2017, Gel status: 3
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
14 Dec 2017, Gel status: 1
Added New Source
Sarah Leigh (Genomics England Curator)ATP6V0A2 was added to Epileptic encephalopathy panel. Sources: Literature
14 Dec 2017, Gel status: 1
Created
Sarah Leigh (Genomics England Curator)ATP6V0A2 was created by Sarah Leigh