Adult onset neurodegenerative disorder
Gene: CHCHD10EnsemblGeneIds (GRCh38): ENSG00000250479
EnsemblGeneIds (GRCh37): ENSG00000250479
OMIM: 615903, Gene2Phenotype
CHCHD10 is in 13 panels
5 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, 1:33 p.m. | Last Modified: 1 Sep 2020, 1:33 p.m.
Panel Version: 2.12
Publications
Nick Beauchamp (Sheffield Diagnostic Genetics Service)
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
James Polke (Neurogenetics Laboratory, Institute of Neurology, London)
Several proposed published variants but few confirmedCreated: 23 Apr 2019, 5:31 p.m.
Publications
Louise Daugherty (Genomics England Curator)
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.
Anthony Dallosso (Bristol Genetics Laboratory)
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
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Yorkshire and North East GLH
- Expert Review Green
- London North GLH
- NHS GMS
- South West GLH
- Phenotypes
-
- ?Myopathy, isolated mitochondrial, autosomal dominant, OMIM:616209
- OMIM
- 615903
- Clinvar variants
- Variants in CHCHD10
- Penetrance
- None
- Publications
- Panels with this gene
-
- Childhood onset dystonia, chorea or related movement disorder
- Likely inborn error of metabolism
- Early onset dementia (encompassing fronto-temporal dementia and prion disease)
- Hereditary neuropathy
- Paediatric motor neuronopathies
- Mitochondrial disorders
- Possible mitochondrial disorder - nuclear genes
- Congenital myopathy
- Arthrogryposis
- Hereditary neuropathy or pain disorder
- Amyotrophic lateral sclerosis/motor neuron disease
- Undiagnosed metabolic disorders
- Adult onset neurodegenerative disorder
History Filter Activity
Set Phenotypes
Ivone Leong (Genomics England Curator)Phenotypes for gene: CHCHD10 were changed from ?Myopathy, isolated mitochondrial, autosomal dominant, 616209 to ?Myopathy, isolated mitochondrial, autosomal dominant, OMIM:616209
Set publications
Eleanor Williams (Genomics England Curator)Publications for gene: CHCHD10 were set to 25113787; 30014597; 27810918; 25576308; 24934289
Set publications
Louise Daugherty (Genomics England Curator)Publications for gene CHCHD10 were changed from 30014597; 25113787; 24934289 to 25113787; 30014597; 27810918; 25576308; 24934289
Added New Source
Louise Daugherty (Genomics England Curator)Source Yorkshire and North East GLH was added to CHCHD10.
Entity classified by Genomics England curator
Louise Daugherty (Genomics England Curator)Gene: chchd10 has been classified as Green List (High Evidence).
Set publications
Louise Daugherty (Genomics England Curator)Publications for gene: CHCHD10 were set to 30014597; 25113787; 24934289
Set publications
Louise Daugherty (Genomics England Curator)Publications for gene: CHCHD10 were set to 30014597
Set mode of inheritance
Louise Daugherty (Genomics England Curator)Mode of inheritance for gene: CHCHD10 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Set publications
Louise Daugherty (Genomics England Curator)Publications for gene: CHCHD10 were set to
Added New Source
Louise Daugherty (Genomics England Curator)Source London North GLH was added to CHCHD10.
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to CHCHD10.
Added New Source
Louise Daugherty (Genomics England Curator)Source South West GLH was added to CHCHD10.
Panel promoted to version 1.0
Louise Daugherty (Genomics England Curator)Rebecca Foulger: Gene awaiting curator evaluati
Set Phenotypes
Rebecca Foulger (Genomics England curator)Added phenotypes ?Myopathy, isolated mitochondrial, autosomal dominant, 616209 for gene: CHCHD10
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Rebecca Foulger (Genomics England curator)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