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Possible mitochondrial disorder - nuclear genes

Gene: CHKB

Red List (low evidence)

CHKB (choline kinase beta)
EnsemblGeneIds (GRCh38): ENSG00000100288
EnsemblGeneIds (GRCh37): ENSG00000100288
OMIM: 612395, Gene2Phenotype
CHKB is in 11 panels

4 reviews

Ivone Leong (Genomics England Curator)

Red List (low evidence)

Initial gene list and info collated by Carl Fratter (Oxford University Hospitals NHS Trust) January 2019 on behalf of the GMS Mitochondrial specialist test group.
Created: 4 Feb 2019, 1:36 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Muscular dystrophy, congenital, megaconial type, 602541

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Allelic disorder to Megaconial Congenital Muscular Dystrophy
Created: 29 Aug 2018, 5:22 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Proximal myopathy with focal depletion of mitochondria

Publications

Ellen McDonagh (Genomics England Curator)

Comment on mode of inheritance: Confirmed in OMIM.
Created: 26 Feb 2016, 3:40 p.m.
Comment on list classification: Green review and evidence in OMIM, green gene on the Congenital muscular dystrophy panel.
Created: 26 Feb 2016, 3:40 p.m.

Shamima Rahman (UCL Institute of Child Health)

Green List (high evidence)

History Filter Activity

4 Feb 2019, Gel status: 1

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

Ivone Leong (Genomics England Curator)

gene: CHKB was added gene: CHKB was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Red,NHS GMS Mode of inheritance for gene: CHKB was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CHKB were set to Muscular dystrophy, congenital, megaconial type, 602541