Microcephaly
Gene: ATP6V0CEnsemblGeneIds (GRCh38): ENSG00000185883
EnsemblGeneIds (GRCh37): ENSG00000185883
OMIM: 108745, Gene2Phenotype
ATP6V0C is in 5 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
PMID:36074901 - 5 out of 27 patients had severe microcephaly (having occipitofrontal circumference (OFC) beyond 3 SD below the mean for their age).
Sources: Expert ReviewCreated: 2 Sep 2023, 2:56 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Epilepsy, early-onset, 3, with or without developmental delay, OMIM:620465
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Expert Review
- Phenotypes
-
- Epilepsy, early-onset, 3, with or without developmental delay, OMIM:620465
- OMIM
- 108745
- Clinvar variants
- Variants in ATP6V0C
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: atp6v0c has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: atp6v0c has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: ATP6V0C was added gene: ATP6V0C was added to Microcephaly. Sources: Expert Review Mode of inheritance for gene: ATP6V0C was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ATP6V0C were set to 33190975; 33090716; 36074901 Phenotypes for gene: ATP6V0C were set to Epilepsy, early-onset, 3, with or without developmental delay, OMIM:620465 Review for gene: ATP6V0C was set to GREEN