Aortopathy_Connective Tissue Disorders

Gene: ATP6V1A

Green List (high evidence)

ATP6V1A (ATPase H+ transporting V1 subunit A)
EnsemblGeneIds (GRCh38): ENSG00000114573
EnsemblGeneIds (GRCh37): ENSG00000114573
OMIM: 607027, Gene2Phenotype
ATP6V1A is in 7 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Note the two consanguineous families had the same homozygous missense variant ?founder.
Created: 8 Jul 2020, 7:19 a.m. | Last Modified: 8 Jul 2020, 7:19 a.m.
Panel Version: 0.149

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Cutis laxa, autosomal recessive, type IID, MIM# 617403

Publications

Ain Roesley (Victorian Clinical Genetics Services)

Green List (high evidence)

PMID: 28065471;
- 3 families (including 2 consanguineous) with homozygous missense
- in vitro assays using patients' fibroblasts demonstrated the variants disrupted V-ATPase complex assembly and stability
Sources: Literature
Created: 7 Jul 2020, 11:40 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Cutis laxa, autosomal recessive, type IID (MIM# 617403)

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Cutis laxa, autosomal recessive, type IID (MIM# 617403)
OMIM
607027
Clinvar variants
Variants in ATP6V1A
Penetrance
unknown
Publications
Panels with this gene

History Filter Activity

6 Mar 2025, Gel status: 3

Entity classified by Genomics England curator

Chirag Patel (Genetic Health Queensland)

Gene: atp6v1a has been classified as Green List (High Evidence).

6 Mar 2025, Gel status: 3

Entity classified by Genomics England curator

Chirag Patel (Genetic Health Queensland)

Gene: atp6v1a has been classified as Green List (High Evidence).

6 Mar 2025, Gel status: 3

Entity classified by Genomics England curator

Chirag Patel (Genetic Health Queensland)

Gene: atp6v1a has been classified as Green List (High Evidence).

8 Jul 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: atp6v1a has been classified as Amber List (Moderate Evidence).

8 Jul 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: atp6v1a has been classified as Green List (High Evidence).

8 Jul 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: atp6v1a has been classified as Green List (High Evidence).

7 Jul 2020, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set penetrance

Ain Roesley (Victorian Clinical Genetics Services)

gene: ATP6V1A was added gene: ATP6V1A was added to Aortopathy_Connective Tissue Disorders. Sources: Literature Mode of inheritance for gene: ATP6V1A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ATP6V1A were set to PMID: 28065471 Phenotypes for gene: ATP6V1A were set to Cutis laxa, autosomal recessive, type IID (MIM# 617403) Penetrance for gene: ATP6V1A were set to unknown Review for gene: ATP6V1A was set to GREEN