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Motor Neurone Disease

Gene: CHCHD10

Green List (high 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

3 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

CHCHD10 is a small protein of the mitochondrial intermembrane space that is enriched at cristae junctions. It is predicted to be involved in oxidative phosphorylation or in maintenance of cristae morphology. Variants have been associated with a broad spectrum of neurological/neuromuscular phenotypes. Several large multiplex families described segregating different neurological disorders, ranging from dementia, to SMA, to myopathy. The p.Gly66Val variant is a founder variant in the Finnish population, associated with the SMA, Jokela type phenotype. Overall, CHCHD10 appears to be a very rare cause of dementia/ALS, no cases identified in a large cohort reported in PMID 31690696. Some suggestion that variants may act through a GoF rather than LoF mechanism. Multiple lines of functional data supporting gene-disease association.
Created: 1 Sep 2020, 10:04 p.m. | Last Modified: 1 Sep 2020, 10:04 p.m.
Panel Version: 0.4093

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Frontotemporal dementia and/or amyotrophic lateral sclerosis 2 615911; Spinal muscular atrophy, Jokela type 615048; Myopathy, isolated mitochondrial, autosomal dominant 616209

Publications

Mode of pathogenicity
Other

Created: 1 Sep 2020, 10:04 p.m.
Last Modified: 1 Sep 2020, 10:04 p.m.
Panel version: Imported from Mendeliome panel version 0.4093

Eleanor Williams (Genomics England)

PMID: 31261376 - Xiao - functional studies on CHCHD10. They find that it is highly expressed at the postsynapse of neuromuscular junctions (NMJ) in skeletal muscles. Knockout of CHCHD10 in mice resulted in motor defects, abnormal neuromuscular transmission and NMJ structure. They report that mitochondrial CHCHD10 is required for ATP production at NMJs by promoting AChRs gene expression.
Created: 1 Sep 2020, 1:31 p.m. | Last Modified: 1 Sep 2020, 1:31 p.m.
Panel Version: 0.4091

Publications

Created: 1 Sep 2020, 1:31 p.m.
Last Modified: 1 Sep 2020, 1:31 p.m.
Panel version: Imported from Mendeliome panel version 0.4091

Bryony Thompson (Royal Melbourne Hospital)

Comment on list classification: >4 cases with ALS phenotype, with or without dementia
Created: 18 Dec 2019, 5:56 a.m. | Last Modified: 18 Dec 2019, 5:56 a.m.
Panel Version: 0.3
Created: 18 Dec 2019, 5:56 a.m.
Last Modified: 18 Dec 2019, 5:56 a.m.
Panel version: Imported from Amyotrophic Lateral Sclerosis and Motor Neuron Disease panel version 0.3

Details

Mode of Inheritance
Unknown
Sources
  • Expert Review Green
  • Expert Review Green
  • Royal Melbourne Hospital
  • Victorian Clinical Genetics Services
  • Melbourne Genomics Health Alliance Complex Neurology Flagship
  • Victorian Clinical Genetics Services
  • Expert Review Green
OMIM
615903
Clinvar variants
Variants in CHCHD10
Penetrance
None
Panels with this gene

History Filter Activity

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: CHCHD10 was added gene: CHCHD10 was added to Motor neuron disease MND_MelbourneGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Complex Neurology Flagship Mode of inheritance for gene: CHCHD10 was set to Unknown