Congenital muscular dystrophy and congenital myopathy
Gene: CHCHD10EnsemblGeneIds (GRCh38): ENSG00000250479
EnsemblGeneIds (GRCh37): ENSG00000250479
OMIM: 615903, Gene2Phenotype
CHCHD10 is in 13 panels
2 reviews
Anna Sarkozy (Great Ormond Street Hospital)
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
Helen Brittain (Genomics England Curator)
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
- PMID 25193783
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Red
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- Myopathy, isolated mitochondrial, autosomal dominant, OMIM:616209
- Frontotemporal dementia and/or amyotrophic lateral sclerosis 2, OMIM:615911
- Spinal muscular atrophy, Jokela type, OMIM:615048
- Tags
- OMIM
- 615903
- Clinvar variants
- Variants in CHCHD10
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Early onset dementia (encompassing fronto-temporal dementia and prion disease)
- Likely inborn error of metabolism
- Possible mitochondrial disorder - nuclear genes
- Hereditary neuropathy or pain disorder
- Congenital myopathy
- Undiagnosed metabolic disorders
- Paediatric motor neuronopathies
- Adult onset neurodegenerative disorder
- Amyotrophic lateral sclerosis/motor neuron disease
- Hereditary neuropathy
- Arthrogryposis
- Childhood onset dystonia, chorea or related movement disorder
- Mitochondrial disorders
History Filter Activity
Created, Added New Source, Added Tag, Set mode of inheritance, Set publications, Set Phenotypes, Set penetrance
Arina Puzriakova (Genomics England Curator)gene: CHCHD10 was added gene: CHCHD10 was added to Congenital muscular dystrophy and congenital myopathy. Sources: Radboud University Medical Center, Nijmegen,Expert Review Red adult-onset tags were added to gene: CHCHD10. Mode of inheritance for gene: CHCHD10 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: CHCHD10 were set to 25193783 Phenotypes for gene: CHCHD10 were set 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 Penetrance for gene: CHCHD10 were set to Complete