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Severe microcephaly

Gene: ATP6V0C

Amber List (moderate evidence)

ATP6V0C (ATPase H+ transporting V0 subunit c)
EnsemblGeneIds (GRCh38): ENSG00000185883
EnsemblGeneIds (GRCh37): ENSG00000185883
OMIM: 108745, Gene2Phenotype
ATP6V0C is in 3 panels

2 reviews

Ivone Leong (Genomics England Curator)

Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is not associated with a phenotype in OMIM or Gene2Phenotype. There is currently not enough evidence to support a gene-disease association. This gene has been given an Amber rating.
Created: 13 Oct 2021, 12:39 p.m. | Last Modified: 13 Oct 2021, 12:39 p.m.
Panel Version: 3.1354

Zornitza Stark (Australian Genomics)

I don't know

9 individuals reported with deletions and ID/seizures/microcephaly, minimum overlapping region implicates ATP6V0C as the causative gene. Single case report of de novo SNV and ID/seizures.
Sources: Literature
Created: 11 Oct 2021, 7:26 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Epilepsy; Intellectual Disability; microcephaly

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Epilepsy
  • Intellectual Disability
  • microcephaly
Tags
watchlist
OMIM
108745
Clinvar variants
Variants in ATP6V0C
Penetrance
None
Publications
Panels with this gene

History Filter Activity

13 Oct 2021, Gel status: 2

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

Ivone Leong (Genomics England Curator)

gene: ATP6V0C was added gene: ATP6V0C was added to Severe microcephaly. Sources: Literature,Expert Review Amber watchlist tags were added to gene: ATP6V0C. Mode of inheritance for gene: ATP6V0C was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ATP6V0C were set to 33190975; 33090716 Phenotypes for gene: ATP6V0C were set to Epilepsy; Intellectual Disability; microcephaly