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Intellectual disability

Gene: ATP6V0A1

Amber List (moderate evidence)

ATP6V0A1 (ATPase H+ transporting V0 subunit a1)
EnsemblGeneIds (GRCh38): ENSG00000033627
EnsemblGeneIds (GRCh37): ENSG00000033627
OMIM: 192130, Gene2Phenotype
ATP6V0A1 is in 1 panel

2 reviews

Ivone Leong (Genomics England Curator)

Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). There is not enough evidence to support a gene-disease association so this gene has been given an Amber rating.
Created: 4 Dec 2020, 2:15 p.m. | Last Modified: 4 Dec 2020, 2:15 p.m.
Panel Version: 3.579

Zornitza Stark (Australian Genomics)

I don't know

PMID: 33057194 - Has been identified as a gene with significant de novo enrichment in a large trio developmental disorder study. 11 de novo missense identified in ~10,000 cases with developmental disorders (no other phenotype info provided hence Amber rating).
PMID: 30842224 - identified a de novo missense variant in a single individual with atypical Rett syndrome phenotype
Sources: Literature
Created: 3 Nov 2020, 11:01 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Developmental disorder; Rett syndrome-like

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
Phenotypes
  • Developmental disorder
  • Rett syndrome-like
OMIM
192130
Clinvar variants
Variants in ATP6V0A1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

4 Dec 2020, Gel status: 2

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: atp6v0a1 has been classified as Amber List (Moderate Evidence).

3 Nov 2020, Gel status: 0

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

Zornitza Stark (Australian Genomics)

gene: ATP6V0A1 was added gene: ATP6V0A1 was added to Intellectual disability. Sources: Literature Mode of inheritance for gene: ATP6V0A1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ATP6V0A1 were set to 30842224; 33057194 Phenotypes for gene: ATP6V0A1 were set to Developmental disorder; Rett syndrome-like Review for gene: ATP6V0A1 was set to AMBER