DDG2P
Gene: ATP6V1A
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; EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 3, OMIM:618012
Publications
Mode of pathogenicity
Other
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
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
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.
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)
Tag Q3_21_rating was removed from gene: ATP6V1A.
Gene: atp6v1a has been classified as Amber List (Moderate Evidence).
Tag Q2_21_rating was removed from gene: ATP6V1A. Tag Q3_21_rating tag was added to gene: ATP6V1A.
Tag Q2_21_rating tag was added to gene: ATP6V1A.
Publications for gene: ATP6V1A were set to 28065471
Mode of inheritance for gene: ATP6V1A was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
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)
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