Hereditary neuropathy
Gene: CHCHD10EnsemblGeneIds (GRCh38): ENSG00000250479
EnsemblGeneIds (GRCh37): ENSG00000250479
OMIM: 615903, Gene2Phenotype
CHCHD10 is in 13 panels
7 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 expressionCreated: 1 Sep 2020, 1:40 p.m. | Last Modified: 1 Sep 2020, 1:40 p.m.
Panel Version: 1.374
Publications
Natalie Forrester (SWGLH - Bristol Genetics)
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
Louise Daugherty (Genomics England Curator)
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.
James Polke (Neurogenetics Laboratory, Institute of Neurology, London)
Can cause a neuronopathyCreated: 29 Apr 2019, 9:20 a.m.
Alexander Rossor (UCL Institute of Neurology)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mary Reilly (Institute of Neurology)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Ellen McDonagh (Genomics England Curator)
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.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- South West GLH
- NHS GMS
- London North GLH
- Expert Review Green
- Phenotypes
-
- Spinal muscular atrophy, Jokela type: 615048
- OMIM
- 615903
- Clinvar variants
- Variants in CHCHD10
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Adult onset neurodegenerative disorder
- Early onset dementia (encompassing fronto-temporal dementia and prion disease)
- Undiagnosed metabolic disorders
- Mitochondrial disorders
- Arthrogryposis
- Congenital myopathy
- Paediatric motor neuronopathies
- Childhood onset dystonia, chorea or related movement disorder
- Hereditary neuropathy or pain disorder
- Likely inborn error of metabolism
- Possible mitochondrial disorder - nuclear genes
- Amyotrophic lateral sclerosis/motor neuron disease
- Hereditary neuropathy
History Filter Activity
Set publications
Eleanor Williams (Genomics England Curator)Publications for gene: CHCHD10 were set to 25428574
Set Phenotypes, Set publications
Louise Daugherty (Genomics England Curator)Added phenotypes Spinal muscular atrophy, Jokela type: 615048 for gene: CHCHD10 Publications for gene CHCHD10 were changed from to 25428574
Added New Source
Louise Daugherty (Genomics England Curator)Source South West GLH was added to CHCHD10.
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to CHCHD10.
Added New Source, Status Update
Louise Daugherty (Genomics England Curator)Source London North GLH was added to CHCHD10. Rating Changed from Green List (high evidence) to Green List (high evidence)
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Created
Mary Reilly (Institute of Neurology)CHCHD10 was created by MReilly-925
Added New Source
Mary Reilly (Institute of Neurology)CHCHD10 was added to Charcot-Marie-Tooth diseasepanel. Sources: Expert Review