Hereditary neuropathy
Gene: CHCHD10PMID: 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 expressionCreated: 1 Sep 2020, 1:40 p.m. | Last Modified: 1 Sep 2020, 1:40 p.m.
Panel Version: 1.374
Publications
Mostly associated with ALS on HGMD. PMID: 25428574 - mutation was shown to segregate with the disease in 55 patients from 17 families (info from abstract only).Created: 29 Apr 2019, 12:30 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Spinal muscular atrophy, Jokela type: 615048
Publications
Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.Created: 9 May 2019, 5 p.m.
Review and rating submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group.Created: 29 Apr 2019, 12:53 p.m.
Can cause a neuronopathyCreated: 29 Apr 2019, 9:20 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Comment on list classification: Added by a reviewer, and rated green by a second reviewer. It is a green gene on the version 1 mitochondrial panel.Created: 6 May 2016, 8:29 a.m.
Publications for gene: CHCHD10 were set to 25428574
Added phenotypes Spinal muscular atrophy, Jokela type: 615048 for gene: CHCHD10 Publications for gene CHCHD10 were changed from to 25428574
Source South West GLH was added to CHCHD10.
Source NHS GMS was added to CHCHD10.
Source London North GLH was added to CHCHD10. Rating Changed from Green List (high evidence) to Green List (high evidence)
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
CHCHD10 was created by MReilly-925
CHCHD10 was added to Charcot-Marie-Tooth diseasepanel. Sources: Expert Review