Cerebral Palsy
Gene: CHCHD10EnsemblGeneIds (GRCh38): ENSG00000250479
EnsemblGeneIds (GRCh37): ENSG00000250479
OMIM: 615903, Gene2Phenotype
CHCHD10 is in 8 panels
1 review
Clare van Eyk (University of Adelaide)
1 individual with mono-allelic missense variant reported in large-scale exome sequencing study (PMID: 38693247). Detailed clinical information not supplied.
Sources: LiteratureCreated: 27 May 2024, 4:34 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Myopathy, isolated mitochondrial, MIM#616209
Publications
- PMID: 38693247
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Red
- Phenotypes
-
- Myopathy, isolated mitochondrial, MIM#616209
- OMIM
- 615903
- Clinvar variants
- Variants in CHCHD10
- Penetrance
- None
- Publications
-
- PMID: 38693247
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: chchd10 has been classified as Red List (Low Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: chchd10 has been classified as Red List (Low Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Clare van Eyk (University of Adelaide)gene: CHCHD10 was added gene: CHCHD10 was added to Cerebral Palsy. Sources: Literature Mode of inheritance for gene: CHCHD10 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CHCHD10 were set to PMID: 38693247 Phenotypes for gene: CHCHD10 were set to Myopathy, isolated mitochondrial, MIM#616209 Review for gene: CHCHD10 was set to AMBER