Paediatric motor neuronopathies

Gene: CHCHD10

Green List (high evidence)

CHCHD10 (coiled-coil-helix-coiled-coil-helix domain containing 10)
EnsemblGeneIds (GRCh38): ENSG00000250479
EnsemblGeneIds (GRCh37): ENSG00000250479
OMIM: 615903, Gene2Phenotype
CHCHD10 is in 15 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 expression
Created: 1 Sep 2020, 1:39 p.m. | Last Modified: 1 Sep 2020, 1:39 p.m.
Panel Version: 1.32

Publications

Pinki Munot (Consultant )

Green List (high evidence)

Many families reported but adult onset disease. Onset in adolescence has been reported but incredibly rare
Created: 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 though
Created: 30 Jan 2017, 2:28 p.m.
Mutations identified in at least 17 families but adult onset
Created: 26 Jan 2017, 11:23 a.m.

History Filter Activity

18 Mar 2021, Gel status: 3

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

1 Sep 2020, Gel status: 3

Set publications

Eleanor Williams (Genomics England Curator)

Publications for gene: CHCHD10 were set to 25428574

7 Mar 2017, Gel status: 4

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

30 Jan 2017, Gel status: 4

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Green List (High Evidence).

26 Jan 2017, Gel status: 4

Set Phenotypes

Alice Gardham (Genomics England)

Phenotypes for CHCHD10 were set to Spinal muscular atrophy, Jokela type 615048

26 Jan 2017, Gel status: 4

Set publications

Alice Gardham (Genomics England)

Publications for CHCHD10 were set to 25428574

26 Jan 2017, Gel status: 4

Set Mode of Inheritance

Alice Gardham (Genomics England)

Mode of inheritance for CHCHD10 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

26 Jan 2017, Gel status: 4

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Green List (High Evidence).

3 Nov 2016, Gel status: 1

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Red List (Low Evidence).

2 Nov 2016, Gel status: 1

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Red List (Low Evidence).

30 Apr 2015, Gel status: 1

Added New Source

Antonio Rueda (GEL)

CHCHD10 was added to Paediatric motor neuronopathiespanel. Sources: Radboud University Medical Center, Nijmegen