Early onset dementia (encompassing fronto-temporal dementia and prion disease)
Gene: CHCHD10
CHCHD10 (coiled-coil-helix-coiled-coil-helix domain containing 10)
EnsemblGeneIds (GRCh38): ENSG00000250479
EnsemblGeneIds (GRCh37): ENSG00000250479
OMIM: 615903, Gene2Phenotype
CHCHD10 is in 13 panels
EnsemblGeneIds (GRCh38): ENSG00000250479
EnsemblGeneIds (GRCh37): ENSG00000250479
OMIM: 615903, Gene2Phenotype
CHCHD10 is in 13 panels
1 review
simon mead (UCL)
Details
- Sources
-
- Expert Review Red
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- ?Myopathy, isolated mitochondrial, autosomal dominant, 616209
- OMIM
- 615903
- Clinvar variants
- Variants in CHCHD10
- Penetrance
- Complete
- Panels with this gene
-
- Early onset dementia (encompassing fronto-temporal dementia and prion disease)
- Likely inborn error of metabolism
- Childhood onset dystonia, chorea or related movement disorder
- Possible mitochondrial disorder - nuclear genes
- Congenital myopathy
- Undiagnosed metabolic disorders
- Paediatric motor neuronopathies
- Adult onset neurodegenerative disorder
- Hereditary neuropathy or pain disorder
- Amyotrophic lateral sclerosis/motor neuron disease
- Hereditary neuropathy
- Arthrogryposis
- Mitochondrial disorders
History Filter Activity
10 May 2016, Gel status: 1
Gene classified by Genomics England curator
Caroline Wright (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
27 Jul 2015, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)CHCHD10 was added to Early onset dementia (encompassing fronto-temporal dementia and prion disease)panel. Sources: Radboud University Medical Center, Nijmegen