Amyotrophic lateral sclerosis/motor neuron 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
Ellen McDonagh (Genomics England Curator)
Comment on list classification: Seems to be one family report currently - need to carry out a literature search to look for further cases.Created: 3 Nov 2016, 6:53 p.m.
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
-
- Mitochondrial disorders
- Likely inborn error of metabolism
- Possible mitochondrial disorder, nuclear genes
- Arthrogryposis
- Hereditary neuropathy or pain disorder
- Early onset dementia (encompassing fronto-temporal dementia and prion disease)
- Dystonia, chorea or related movement disorder, childhood onset
- Hereditary neuropathy
- Congenital myopathy
- Amyotrophic lateral sclerosis/motor neuron disease
- Paediatric motor neuronopathies
- Undiagnosed metabolic disorders
- Neurodegenerative disorders, adult onset
History Filter Activity
19 Dec 2016, Gel status: 1
panel promoted to version 1
Alice Gardham (Genomics England)Promoted to version 1 on 19th December 2016 following external review and internal curation
3 Nov 2016, Gel status: 1
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
18 Aug 2015, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)CHCHD10 was added to Amyotrophic lateral sclerosis/motor neuron diseasepanel. Source: Radboud University Medical Center, Nijmegen
18 Aug 2015, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)CHCHD10 was added to Amyotrophic lateral sclerosis/motor neuron diseasepanel. Sources: Radboud University Medical Center, Nijmegen