Callosome
Gene: ATP6V0CEnsemblGeneIds (GRCh38): ENSG00000185883
EnsemblGeneIds (GRCh37): ENSG00000185883
OMIM: 108745, Gene2Phenotype
ATP6V0C is in 5 panels
1 review
Naomi Baker (Victorian Clinical Genetics Services)
27 individuals reported with developmental delay, early-onset seizures, and ID. Of the 21 individuals with MRIs, five had agenesis/hypoplasia of the corpus callosum, five had cerebellar vermis, and four had delayed myelination. De novo variants identified in most individuals, including missense, frameshift and a stop-loss variant. Authors present some functional studies and postulate a dominant negative mechanism.
Sources: LiteratureCreated: 6 Oct 2022, 3:52 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
neurodevelopmental disorder (MONDO:0700092), ATP6V0C-related
Publications
- PMID:36074901
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Phenotypes
-
- Epilepsy, early-onset, with or without developmental delay, MIM#620465
- neurodevelopmental disorder (MONDO:0700092), ATP6V0C-related
- OMIM
- 108745
- Clinvar variants
- Variants in ATP6V0C
- Penetrance
- None
- Publications
-
- PMID:36074901
- Panels with this gene
History Filter Activity
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: ATP6V0C were changed from neurodevelopmental disorder (MONDO:0700092), ATP6V0C-related to Epilepsy, early-onset, with or without developmental delay, MIM#620465; neurodevelopmental disorder (MONDO:0700092), ATP6V0C-related
Entity classified by Genomics England curator
Alison Yeung (Victorian Clinical Genetics Services)Gene: atp6v0c has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Alison Yeung (Victorian Clinical Genetics Services)Gene: atp6v0c has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Naomi Baker (Victorian Clinical Genetics Services)gene: ATP6V0C was added gene: ATP6V0C was added to Callosome. Sources: Literature Mode of inheritance for gene: ATP6V0C was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ATP6V0C were set to PMID:36074901 Phenotypes for gene: ATP6V0C were set to neurodevelopmental disorder (MONDO:0700092), ATP6V0C-related Review for gene: ATP6V0C was set to GREEN