Inborn errors of metabolismGene: CHCHD10
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
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.
Publications for gene: CHCHD10 were set to
Checked against super panel made up of the panel constituents. Ready to promote to version 1.
Added phenotypes Frontotemporal dementia and/or amyotrophic lateral sclerosis 2; ?Myopathy, isolated mitochondrial, autosomal dominant, 616209; Spinal muscular atrophy, Jokela type for gene: CHCHD10
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