Mitochondrial disorders
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
2 reviews
Ellen McDonagh (Genomics England Curator)
Comment on mode of inheritance: OMIM and reports. Not on the imprinted gene list.Created: 26 Feb 2016, 3:35 p.m.
Comment on list classification: Green review, and seems to be enough evidence in OMIM that variants within this gene are disease related.Created: 26 Feb 2016, 3:33 p.m.
Shamima Rahman (UCL Institute of Child Health)
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Victorian Clinical Genetics Services
- Expert Review Green
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- ?Myopathy, isolated mitochondrial, autosomal dominant, 616209
- Frontotemporal dementia and/or amyotrophic lateral sclerosis 2
- Spinal muscular atrophy, Jokela type
- OMIM
- 615903
- Clinvar variants
- Variants in CHCHD10
- Penetrance
- Complete
- Panels with this gene
-
- Childhood onset dystonia, chorea or related movement disorder
- Likely inborn error of metabolism
- Early onset dementia (encompassing fronto-temporal dementia and prion disease)
- Hereditary neuropathy
- Paediatric motor neuronopathies
- Mitochondrial disorders
- Possible mitochondrial disorder - nuclear genes
- Congenital myopathy
- Arthrogryposis
- Hereditary neuropathy or pain disorder
- Amyotrophic lateral sclerosis/motor neuron disease
- Undiagnosed metabolic disorders
- Adult onset neurodegenerative disorder
History Filter Activity
28 Aug 2018, Gel status: 4
Added New Source
Sarah Leigh (Genomics England Curator)Victorian Clinical Genetics Services was added to CHCHD10. Panel: Mitochondrial disorders
26 Feb 2016, Gel status: 4
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Mode of inheritance for CHCHD10 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
26 Feb 2016, Gel status: 4
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for CHCHD10 were set to ?Myopathy, isolated mitochondrial, autosomal dominant, 616209; Frontotemporal dementia and/or amyotrophic lateral sclerosis 2; Spinal muscular atrophy, Jokela type
26 Feb 2016, Gel status: 4
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
30 Jun 2015, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)CHCHD10 was added to All recognised syndromes and those with suggestive featurespanel. Sources: Radboud University Medical Center, Nijmegen