Congenital disorders of glycosylation
Gene: ATP6V0A2EnsemblGeneIds (GRCh38): ENSG00000185344
EnsemblGeneIds (GRCh37): ENSG00000185344
OMIM: 611716, Gene2Phenotype
ATP6V0A2 is in 14 panels
2 reviews
Sarah Leigh (Genomics England Curator)
GlyGen link updated April 2021: https://www.glygen.org/protein/Q9Y487-1#DiseaseCreated: 8 Apr 2021, 9:37 a.m. | Last Modified: 8 Apr 2021, 9:37 a.m.
Panel Version: 2.66
Comment when marking as ready: Associated with phenotype in OMIM, not in G2P / DD. At least 4 homozygous variants reportedCreated: 15 Dec 2016, 12:12 p.m.
Daniel Ungar (University of York, Department of Biology)
Phenotypes
cutis laxa
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- UKGTN
- Radboud University Medical Center, Nijmegen
- Literature
- Illumina TruGenome Clinical Sequencing Services
- Emory Genetics Laboratory
- Phenotypes
-
- Cutis laxa, autosomal recessive, type IIA 21920
- Wrinkly skin syndrome 278250
- V0 subunit A2 of vesicular H(+)-ATPase deficiency (Disorders of multiple glycosylation and other glycosylation pathways, V-ATPase deficiencies)
- OMIM
- 611716
- Clinvar variants
- Variants in ATP6V0A2
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Thoracic aortic aneurysm or dissection
- Ehlers Danlos syndrome with a likely monogenic cause
- Early onset or syndromic epilepsy
- Skeletal dysplasia
- Fetal anomalies
- Undiagnosed metabolic disorders
- Osteogenesis imperfecta
- Pneumothorax - familial
- Intellectual disability
- Congenital disorders of glycosylation
- Childhood onset dystonia, chorea or related movement disorder
- Likely inborn error of metabolism
- Rare genetic inflammatory skin disorders
- Thoracic aortic aneurysm or dissection (GMS)
History Filter Activity
panel promoted to version 1
Sarah Leigh (Genomics England Curator)Promoted to V1 19th December 2016
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set publications
Sarah Leigh (Genomics England Curator)Publications for ATP6V0A2 were set to 20301755
Added New Source
Sarah Leigh (Genomics England Curator)ATP6V0A2 was added to Congenital disorders of glycosylationpanel. Source: UKGTN
Added New Source
Sarah Leigh (Genomics England Curator)ATP6V0A2 was added to Congenital disorders of glycosylationpanel. Source: Radboud University Medical Center, Nijmegen
Set Mode of Inheritance, Added New Source
Sarah Leigh (Genomics England Curator)ATP6V0A2 was added to Congenital disorders of glycosylationpanel. Source: Literature Model of inheritance for gene ATP6V0A2 was set to BIALLELIC, autosomal or pseudoautosomal
Added New Source
Sarah Leigh (Genomics England Curator)ATP6V0A2 was added to Congenital disorders of glycosylationpanel. Source: Illumina TruGenome Clinical Sequencing Services
Created
Sarah Leigh (Genomics England Curator)ATP6V0A2 was created by sleigh
Added New Source
Sarah Leigh (Genomics England Curator)ATP6V0A2 was added to Congenital disorders of glycosylationpanel. Sources: Emory Genetics Laboratory