Mitochondrial disease
Gene: CHCHD2EnsemblGeneIds (GRCh38): ENSG00000106153
EnsemblGeneIds (GRCh37): ENSG00000106153
OMIM: 616244, Gene2Phenotype
CHCHD2 is in 3 panels
1 review
Bryony Thompson (Royal Melbourne Hospital)
Five families with heterozygous variants, segregation evidence for T61I in multiple families. Supporting functional evidence suggesting mitochondrial dysfunction through the genes role in mitochondrial respiratory function.
Sources: LiteratureCreated: 24 Mar 2020, 10:43 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Parkinson disease 22, autosomal dominant MIM#616710
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Literature
- Phenotypes
-
- Parkinson disease 22, autosomal dominant MIM#616710
- OMIM
- 616244
- Clinvar variants
- Variants in CHCHD2
- 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: chchd2 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: chchd2 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: CHCHD2 was added gene: CHCHD2 was added to Mitochondrial disease. Sources: Literature Mode of inheritance for gene: CHCHD2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CHCHD2 were set to 32068847; 25662902; 31600778 Phenotypes for gene: CHCHD2 were set to Parkinson disease 22, autosomal dominant MIM#616710 Review for gene: CHCHD2 was set to GREEN