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

Hereditary neuropathy NOT PMP22 copy number

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

6 reviews

Natalie Forrester (SWGLH - Bristol Genetics)

Green List (high evidence)

Mostly associated with ALS on HGMD. PMID: 25428574 - mutation was shown to segregate with the disease in 55 patients from 17 families (info from abstract only).
Created: 29 Apr 2019, 12:30 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Spinal muscular atrophy, Jokela type: 615048

Publications

Louise Daugherty (Genomics England Curator)

I don't know

Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
Created: 9 May 2019, 5 p.m.
Review and rating submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group.
Created: 29 Apr 2019, 12:53 p.m.

James Polke (Neurogenetics Laboratory, Institute of Neurology, London)

Green List (high evidence)

Can cause a neuronopathy
Created: 29 Apr 2019, 9:20 a.m.

Alexander Rossor (UCL Institute of Neurology)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Mary Reilly (Institute of Neurology)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Added by a reviewer, and rated green by a second reviewer. It is a green gene on the version 1 mitochondrial panel.
Created: 6 May 2016, 8:29 a.m.

History Filter Activity

5 Dec 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

gene: CHCHD10 was added gene: CHCHD10 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH,South West GLH,Expert Review Green,Expert Review Mode of inheritance for gene: CHCHD10 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CHCHD10 were set to 25428574 Phenotypes for gene: CHCHD10 were set to Spinal muscular atrophy, Jokela type: 615048