Genes in panel
STRs in panel
Prev Next
Regions in panel
Prev Next

Severe Paediatric Disorders

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 14 panels

1 review

Louise Daugherty (Genomics England Curator)

I don't know

Initial gene list (NGC_genelist-20190823_GREEN_dis_moi_forCuration_20200211.xlsx) collated by Dr Courtney French (University of Cambridge University Hospital NHS Foundation), Dr Karyn Megy (Clinical Feedback Lead, NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation), Dr Alba Sanchis-Juan (NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation) and Lucy Raymond (Professor of Medical Genetics and Neurodevelopment, University of Cambridge University Hospital NHS Foundation). Submitted to the PanelApp resource January 2020 on behalf of the Next Generation Children Project, Addenbrookes' Hospital, Cambridge. Gene Symbol submitted: CHCHD10; Recommended initial gene rating: Green List (high evidence); Phenotypes: Frontotemporal dementia and/or amyotrophic lateral sclerosis 2, 615911 (3) | ?Myopathy, isolated mitochondrial, autosomal dominant, 616209 (3) | Spinal muscular atrophy, Jokela type, 615048 (3); Mode of inheritance: Autosomal dominant | Autosomal dominant | Autosomal dominant
Created: 20 Feb 2020, 5:17 p.m. | Last Modified: 20 Feb 2020, 5:17 p.m.
Panel Version: 0.12

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Next Generation Children Project
  • Expert Review Green
  • Expert list
Phenotypes
  • ?Myopathy, isolated mitochondrial, autosomal dominant, 616209
  • Spinal muscular atrophy, Jokela type, 615048
  • Frontotemporal dementia and/or amyotrophic lateral sclerosis 2, 615911
OMIM
615903
Clinvar variants
Variants in CHCHD10
Penetrance
None
Publications
Panels with this gene