Paediatric motor neuronopathies
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, 1:39 p.m. | Last Modified: 1 Sep 2020, 1:39 p.m.
Panel Version: 1.32
Publications
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
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.
Phenotypes for gene: CHCHD10 were changed from Spinal muscular atrophy, Jokela type 615048 to Spinal muscular atrophy, Jokela type, OMIM:615048
Publications for gene: CHCHD10 were set to 25428574
Gene panel promoted to v1 on 7 March 2017 following external review and internal curation
This gene has been classified as Green List (High Evidence).
Phenotypes for CHCHD10 were set to Spinal muscular atrophy, Jokela type 615048
Publications for CHCHD10 were set to 25428574
Mode of inheritance for CHCHD10 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
This gene has been classified as Green List (High Evidence).
This gene has been classified as Red List (Low Evidence).
This gene has been classified as Red List (Low Evidence).
CHCHD10 was added to Paediatric motor neuronopathiespanel. Sources: Radboud University Medical Center, Nijmegen