Cutis Laxa
Gene: ATP6V0A2
ATP6V0A2 (ATPase H+ transporting V0 subunit a2)
EnsemblGeneIds (GRCh38): ENSG00000185344
EnsemblGeneIds (GRCh37): ENSG00000185344
OMIM: 611716, Gene2Phenotype
ATP6V0A2 is in 13 panels
EnsemblGeneIds (GRCh38): ENSG00000185344
EnsemblGeneIds (GRCh37): ENSG00000185344
OMIM: 611716, Gene2Phenotype
ATP6V0A2 is in 13 panels
1 review
Ain Roesley (Victorian Clinical Genetics Services)
PMID: 23963297; 6 patients from 5 unrelated families with cutis laxa
PMID: 30071989; not a gene for HTAAD by clingen working group
Sources: LiteratureCreated: 1 Jul 2020, 5:28 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Cutis laxa, autosomal recessive, type IIA (MIM# 219200), Wrinkly skin syndrome (MIM# 278250)
Publications
- PMID: 23963297
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Literature
- GeneReviews
- Phenotypes
-
- Cutis laxa, autosomal recessive, type IIA MIM#219200
- Wrinkly skin syndrome MIM#278250
- OMIM
- 611716
- Clinvar variants
- Variants in ATP6V0A2
- Penetrance
- None
- Publications
- Panels with this gene
-
- Mackenzie's Mission_Reproductive Carrier Screening
- Congenital Disorders of Glycosylation
- Skeletal dysplasia
- Fetal anomalies
- Additional findings_Paediatric
- Prepair 1000+
- Cutis Laxa
- Mendeliome
- BabyScreen+ newborn screening
- Aortopathy_Connective Tissue Disorders
- Intellectual disability syndromic and non-syndromic
- Callosome
- Genetic Epilepsy
History Filter Activity
15 Oct 2022, Gel status: 3
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: atp6v0a2 has been classified as Green List (High Evidence).
15 Oct 2022, Gel status: 3
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: ATP6V0A2 were set to
10 Apr 2020, Gel status: 3
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: ATP6V0A2 was added gene: ATP6V0A2 was added to Cutis Laxa. Sources: Expert Review Green,GeneReviews 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 MIM#219200; Wrinkly skin syndrome MIM#278250