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DDG2P

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 4 panels

4 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

The DDG2P confidence category, allelic requirement and molecular mechanism for ATP6V1A-related cutis laxa are strong, biallelic_autosomal and undetermined (PMIDs: 28065471, 33320377). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P02592. The DDG2P confidence category, allelic requirement and molecular mechanism for ATP6V1A-related epileptic encephalopathy, infantile or early childhood are definitive, monoallelic_autosomal and undetermined (PMIDs: 29668857, 32045939). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P02984.
Created: 13 Feb 2026, 9:25 p.m. | Last Modified: 13 Feb 2026, 9:25 p.m.
Panel Version: 6.17
The DDG2P confidence category for the disease Autosomal Recessive Cutis Laxa is strong. The allelic requirement and mutation consequence are biallelic_autosomal and altered gene product structure (PMID:28065471). The DDG2P confidence category for the disease EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 3, OMIM:618012 is definitive. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMIDs: 29668857;32045939).
Created: 4 Oct 2023, 5:08 p.m. | Last Modified: 4 Oct 2023, 5:08 p.m.
Panel Version: 3.12

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Autosomal Recessive Cutis Laxa; OMIM:617403.0; OMIM:618012.0; ATP6V1A-related epileptic encephalopathy, infantile or early childhood; MONDO:0020632; ATP6V1A-related cutis laxa; MONDO:0027451; EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 3, OMIM:618012

Publications

Mode of pathogenicity
Other

Created: 4 Oct 2023, 5:08 p.m.
Last Modified: 4 Oct 2023, 5:08 p.m.
Panel version: 6.17

Eleanor Williams (Genomics England Curator)

Removing the GMS review tag. This panel will shortly be updated to reflect the most recent Developmental Disorders panel in Gene2Phenotype. The gene is already green on the Genetic epilepsy syndromes, Intellectual disability and Ehlers Danlos syndromes panels. As Intellectual disability is part of the Paediatric disorders superpanel it will already appear there with a monoallelic mode of inheritance. The biallelic phenotype of Cutis laxa is not relevant to the Paediatric disorders superpanel.
Created: 27 Jul 2022, 1:35 p.m. | Last Modified: 27 Jul 2022, 1:35 p.m.
Panel Version: 2.76
Created: 27 Jul 2022, 1:35 p.m.
Last Modified: 27 Jul 2022, 1:35 p.m.
Panel version: 2.76

Arina Puzriakova (Genomics England Curator)

Green List (high evidence)

Comment on list classification: There is sufficient evidence to promote this gene to Green at the next GMS panel update.
Created: 6 Jul 2021, 2:53 p.m. | Last Modified: 6 Jul 2021, 2:53 p.m.
Panel Version: 2.34
Comment on mode of inheritance: Despite the different disease confidence ratings associated with each MOI in G2P, there is enough evidence in the literature to support pathogenicity of both biallelic and monoallelic variants in ATP6V1A.

As DDG2P is a component panel of the Paediatric disorders super panel, the MOI has been updated from 'Biallelic' to 'Both mono- and biallelic' to ensure that all cases are captured.
Created: 6 Jul 2021, 2:49 p.m. | Last Modified: 6 Jul 2021, 2:49 p.m.
Panel Version: 2.32
Multiple DD-G2P ratings (confirmed; probable): confirmed for monoallelic ATP6V1A disease - Epileptic encephalopathy, infantile or early childhood; and probable for biallelic ATP6V1A disease - Autosomal recessive cutis laxa.
Created: 6 Jul 2021, 2:48 p.m. | Last Modified: 6 Jul 2021, 2:48 p.m.
Panel Version: 2.31

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Publications

Created: 6 Jul 2021, 2:48 p.m.
Last Modified: 6 Jul 2021, 2:48 p.m.
Panel version: 2.34

Rebecca Foulger (Genomics England curator)

I don't know

New gene:disorder association added to DDG2P in March 2019: Autosomal Recessive Cutis Laxa. DDG2P Disease confidence: probable. DDG2P mode of pathogenicity/mutation consequence: all missense/in frame. DDG2P mode of inheritance: biallelic.
Created: 22 Apr 2019, 7:34 p.m.
Created: 22 Apr 2019, 7:34 p.m.

Panel version: 1.38

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • DD-Gene2Phenotype
Phenotypes
  • Autosomal Recessive Cutis Laxa (AR)
  • Epileptic encephalopathy, infantile or early childhood, 3 (AD)
OMIM
607027
Clinvar variants
Variants in ATP6V1A
Penetrance
None
Publications
Panels with this gene

History Filter Activity

13 Feb 2026, Gel status: 3

Set mode of pathogenicity

Achchuthan Shanmugasundram (Genomics England Curator)

Mode of pathogenicity for gene: ATP6V1A was changed from Other to None

4 Oct 2023, Gel status: 3

Added New Source, Set mode of pathogenicity, Set publications, Status Update

Achchuthan Shanmugasundram (Genomics England Curator)

Source Expert Review Green was added to ATP6V1A. Mode of pathogenicity for gene ATP6V1A was changed from Other - please provide details in the comments to Other Publications for gene: ATP6V1A were updated from 28065471; 33320377; 29668857; 32045939 to 28065471; 29668857; 33320377; 32045939 Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

27 Jul 2022, Gel status: 2

Removed Tag

Eleanor Williams (Genomics England Curator)

Tag Q3_21_rating was removed from gene: ATP6V1A.

6 Jul 2021, Gel status: 2

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

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

6 Jul 2021, Gel status: 2

Removed Tag, Added Tag

Arina Puzriakova (Genomics England Curator)

Tag Q2_21_rating was removed from gene: ATP6V1A. Tag Q3_21_rating tag was added to gene: ATP6V1A.

6 Jul 2021, Gel status: 2

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag Q2_21_rating tag was added to gene: ATP6V1A.

6 Jul 2021, Gel status: 2

Set publications

Arina Puzriakova (Genomics England Curator)

Publications for gene: ATP6V1A were set to 28065471

6 Jul 2021, Gel status: 2

Set mode of inheritance

Arina Puzriakova (Genomics England Curator)

Mode of inheritance for gene: ATP6V1A was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

6 Jul 2021, Gel status: 2

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: ATP6V1A were changed from Autosomal Recessive Cutis Laxa to Autosomal Recessive Cutis Laxa (AR); Epileptic encephalopathy, infantile or early childhood, 3 (AD)

22 Apr 2019, Gel status: 2

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

Rebecca Foulger (Genomics England curator)

gene: ATP6V1A was added gene: ATP6V1A was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: ATP6V1A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ATP6V1A were set to 28065471 Phenotypes for gene: ATP6V1A were set to Autosomal Recessive Cutis Laxa Mode of pathogenicity for gene: ATP6V1A was set to Other - please provide details in the comments