Paediatric motor neuronopathies
Gene: CHCHD10EnsemblGeneIds (GRCh38): ENSG00000250479
EnsemblGeneIds (GRCh37): ENSG00000250479
OMIM: 615903, Gene2Phenotype
CHCHD10 is in 13 panels
3 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, 1:39 p.m. | Last Modified: 1 Sep 2020, 1:39 p.m.
Panel Version: 1.32
Publications
Pinki Munot (Consultant )
Many families reported but adult onset disease. Onset in adolescence has been reported but incredibly rareCreated: 2 Mar 2017, 3:57 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Alice Gardham (Genomics England)
Comment on list classification: Some patients has symptoms from teens -mostly adult onset thoughCreated: 30 Jan 2017, 2:28 p.m.
Mutations identified in at least 17 families but adult onsetCreated: 26 Jan 2017, 11:23 a.m.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- Spinal muscular atrophy, Jokela type, OMIM:615048
- OMIM
- 615903
- Clinvar variants
- Variants in CHCHD10
- Penetrance
- Complete
- 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 Spinal muscular atrophy, Jokela type 615048 to Spinal muscular atrophy, Jokela type, OMIM:615048
Set publications
Eleanor Williams (Genomics England Curator)Publications for gene: CHCHD10 were set to 25428574
panel promoted to version 1
Arianna Tucci (Genomics England Curator)Gene panel promoted to v1 on 7 March 2017 following external review and internal curation
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Green List (High Evidence).
Set Phenotypes
Alice Gardham (Genomics England)Phenotypes for CHCHD10 were set to Spinal muscular atrophy, Jokela type 615048
Set publications
Alice Gardham (Genomics England)Publications for CHCHD10 were set to 25428574
Set Mode of Inheritance
Alice Gardham (Genomics England)Mode of inheritance for CHCHD10 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Red List (Low Evidence).
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Red List (Low Evidence).
Added New Source
Antonio Rueda (GEL)CHCHD10 was added to Paediatric motor neuronopathiespanel. Sources: Radboud University Medical Center, Nijmegen