Adult onset neurodegenerative disorder
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 expression.Created: 1 Sep 2020, 1:33 p.m. | Last Modified: 1 Sep 2020, 1:33 p.m.
Panel Version: 2.12
Publications
Frequenct in Finnish population due to founder effect.Created: 23 Jul 2019, 3:35 p.m. | Last Modified: 23 Jul 2019, 3:35 p.m.
Panel Version: 1.72
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
?Myopathy, isolated mitochondrial, autosomal dominant, 616209
Publications
Variants in this GENE are reported as part of current diagnostic practice
Several proposed published variants but few confirmedCreated: 23 Apr 2019, 5:31 p.m.
Publications
As discussed with the GMS Neurology Specialist Test Group webex call11th September 2019 : The Specialist Test Group all agreed that there is enough evidence to rate this gene GreenCreated: 20 Sep 2019, 4:19 p.m. | Last Modified: 20 Sep 2019, 4:19 p.m.
Panel Version: 1.106
Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.Created: 23 Jul 2019, 3:51 p.m. | Last Modified: 23 Jul 2019, 3:51 p.m.
Panel Version: 1.74
Review and rating submitted byJames Polke (North Bristol NHS Trust), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.Created: 23 Apr 2019, 5:35 p.m.
Review and rating from Anthony Dallosso (Bristol Genetics Laboratory), submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group.Created: 23 Apr 2019, 3:05 p.m.
8 affected 2 unaffected in mixed phenotpe ALS/FTD/cerebellar ataxia/myopathy family with p.Ser59Leu variant; same var also identifed in proband of unrelated ALS/FTD family (24934289); 2 purely ALS families with p.Arg15Leu, AD with incomplete penetrance (25113787).Created: 23 Apr 2019, 2:42 p.m.
Mode of inheritance
Unknown
Phenotypes
?Myopathy, isolated mitochondrial, autosomal dominant, 616209
Phenotypes for gene: CHCHD10 were changed from ?Myopathy, isolated mitochondrial, autosomal dominant, 616209 to ?Myopathy, isolated mitochondrial, autosomal dominant, OMIM:616209
Publications for gene: CHCHD10 were set to 25113787; 30014597; 27810918; 25576308; 24934289
Publications for gene CHCHD10 were changed from 30014597; 25113787; 24934289 to 25113787; 30014597; 27810918; 25576308; 24934289
Source Yorkshire and North East GLH was added to CHCHD10.
Gene: chchd10 has been classified as Green List (High Evidence).
Publications for gene: CHCHD10 were set to 30014597; 25113787; 24934289
Publications for gene: CHCHD10 were set to 30014597
Mode of inheritance for gene: CHCHD10 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: CHCHD10 were set to
Source London North GLH was added to CHCHD10.
Source NHS GMS was added to CHCHD10.
Source South West GLH was added to CHCHD10.
Rebecca Foulger: Gene awaiting curator evaluati
Added phenotypes ?Myopathy, isolated mitochondrial, autosomal dominant, 616209 for gene: CHCHD10
gene: CHCHD10 was added gene: CHCHD10 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red Mode of inheritance for gene: CHCHD10 was set to Unknown Phenotypes for gene: CHCHD10 were set to ?Myopathy, isolated mitochondrial, autosomal dominant, 616209