Congenital myopathy
Gene: CHCHD10
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
?Myopathy, isolated mitochondrial, autosomal dominant 616209; Frontotemporal dementia and/or amyotrophic lateral sclerosis 2 615911; Spinal muscular atrophy, Jokela type 615048
Publications
Comment when marking as ready: Adult phenotype. One reported association with ALS / FTDCreated: 3 Feb 2017, 11:46 a.m.
Comment on list classification: Adult onset. One reported association with FTD / ALSCreated: 3 Feb 2017, 11:44 a.m.
One family described in the myopathy phenotype only. One family for the FTD / ALS phenotype. Many Finnish families for the SMAJ phenotype in view of a founder mutation. This phenotype is of adult onset. There is insufficient evidence for use on a congenital myopathy panel and concern about possible link with FTD / ALS. Therefore red gene.Created: 30 Jan 2017, 2:38 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
?Myopathy, isolated mitochondrial, autosomal dominant 616209; Frontotemporal dementia and/or amyotrophic lateral sclerosis 2 615911; Spinal muscular atrophy, Jokela type 615048
Publications
Phenotypes for gene: CHCHD10 were changed from ?Myopathy, isolated mitochondrial, autosomal dominant 616209; Frontotemporal dementia and/or amyotrophic lateral sclerosis 2 615911; Spinal muscular atrophy, Jokela type 615048 to Myopathy, isolated mitochondrial, autosomal dominant, OMIM:616209; Frontotemporal dementia and/or amyotrophic lateral sclerosis 2, OMIM:615911; Spinal muscular atrophy, Jokela type, OMIM:615048
Promoted 22/02/2017 after curation discussion and further review with members of the Genomics England curation team. Participants who are offered this panel will automatically be offered the following three panels: 1) Congenital muscular dystrophy 2) Congenital myasthenia and 3) Paediatric motor neuronopathy as this will cover a large range of differentials for a weak infant, for where the strict inclusion criteria are not applicable in view of the availability of muscle biopsy testing in peripheral paediatric units.
This gene has been classified as Red List (Low Evidence).
Phenotypes for CHCHD10 were set to ?Myopathy, isolated mitochondrial, autosomal dominant 616209; Frontotemporal dementia and/or amyotrophic lateral sclerosis 2 615911; Spinal muscular atrophy, Jokela type 615048
Publications for CHCHD10 were set to 25193783
Mode of inheritance for CHCHD10 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
This gene has been classified as Red List (Low Evidence).
CHCHD10 was added to Congenital myopathypanel. Sources: Radboud University Medical Center, Nijmegen