Severe microcephalyGene: ATP6V0C
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
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.
Created: 11 Oct 2021, 7:26 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Epilepsy; Intellectual Disability; microcephaly
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