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  2. Likely inborn error of metabolism
  3. CHCHD10
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Likely inborn error of metabolism

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 13 panels

3 reviews

Eleanor Williams (Genomics England Curator)

PMID: 31261376 - Xiao et al 2020 - 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, 1:34 p.m. | Last Modified: 1 Sep 2020, 1:34 p.m.
Panel Version: 2.17

Publications

Created: 1 Sep 2020, 1:34 p.m.
Last Modified: 1 Sep 2020, 1:34 p.m.
Panel version: 2.17

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.
Created: 26 Feb 2016, 3:32 p.m.

Panel version: Imported from Mitochondrial disorders panel version 0.351

Shamima Rahman (UCL Institute of Child Health)

Green List (high evidence)

Created: 8 Feb 2016, 10:30 a.m.

Panel version: Imported from Mitochondrial disorders panel version 0.37

History Filter Activity

1 Sep 2020, Gel status: 3

Set publications

Eleanor Williams (Genomics England Curator)

Publications for gene: CHCHD10 were set to

8 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Checked against super panel made up of the panel constituents. Ready to promote to version 1.

16 Dec 2018, Gel status: 4

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Added phenotypes Frontotemporal dementia and/or amyotrophic lateral sclerosis 2; ?Myopathy, isolated mitochondrial, autosomal dominant, 616209; Spinal muscular atrophy, Jokela type for gene: CHCHD10

16 Dec 2018, Gel status: 4

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

Ellen McDonagh (Genomics England Curator)

gene: CHCHD10 was added gene: CHCHD10 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: CHCHD10 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: CHCHD10 were set to Frontotemporal dementia and/or amyotrophic lateral sclerosis 2; ?Myopathy, isolated mitochondrial, autosomal dominant, 616209; Spinal muscular atrophy, Jokela type