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Ataxia - adult onset

Gene: CHCHD10

Red List (low evidence)
CHCHD10 (coiled-coil-helix-coiled-coil-helix domain containing 10)
EnsemblGeneIds (GRCh38): ENSG00000250479
EnsemblGeneIds (GRCh37): ENSG00000250479
OMIM: 615903, Gene2Phenotype
CHCHD10 is in 8 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

Red List (low evidence)

A single family with ataxia as a feature of the phenotype.
Sources: Literature
Created: 20 Apr 2024, 4:20 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
autosomal dominant mitochondrial myopathy with exercise intolerance MONDO:0014532

Publications

Created: 20 Apr 2024, 4:20 a.m.

Panel version: 1.9

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • autosomal dominant mitochondrial myopathy with exercise intolerance MONDO:0014532
OMIM
615903
Clinvar variants
Variants in CHCHD10
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 Apr 2024, Gel status: 1

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: chchd10 has been classified as Red List (Low Evidence).

20 Apr 2024, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

gene: CHCHD10 was added gene: CHCHD10 was added to Ataxia - adult onset. Sources: Literature Mode of inheritance for gene: CHCHD10 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CHCHD10 were set to 24934289 Phenotypes for gene: CHCHD10 were set to autosomal dominant mitochondrial myopathy with exercise intolerance MONDO:0014532 Review for gene: CHCHD10 was set to RED