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  3. CHKB
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Likely inborn error of metabolism

Gene: CHKB

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

6 reviews

Sarah Leigh (Genomics England Curator)

Comment on list classification: This gene was demoted from Green to Red, based on the reviews of clinical experts.
Created: 19 Jun 2019, 12:35 p.m.
Created: 19 Jun 2019, 12:35 p.m.

Panel version: Imported from Mitochondrial disorders panel version 1.390

Anna de Burca (Oxford University Hospitals NHS Foundation Trust)

Red List (low evidence)

Not a primary mitochondrial disorder but the mitochondria are abnormal
Created: 19 Jun 2019, 12:26 p.m.

Phenotypes
Muscular dystrophy, congenital, megaconial type, 602541

Created: 19 Jun 2019, 12:26 p.m.

Panel version: Imported from Mitochondrial disorders panel version 1.388

Carl Fratter (Oxford University Hospitals NHS Trust)

Red List (low evidence)

Red - not considered a primary mitochondrial disorder; CHKB catalyses phosphorylation of choline by ATP (important step in biosynthesis of phosphatidylcholine)
Created: 11 Jun 2019, 3:59 p.m.

Phenotypes
Muscular dystrophy, congenital, megaconial type, 602541

Created: 11 Jun 2019, 3:59 p.m.

Panel version: Imported from Mitochondrial disorders panel version 1.384

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

Created: 29 Aug 2018, 5:22 a.m.

Panel version: Imported from Mitochondrial disorders panel version 1.67

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.
Created: 26 Feb 2016, 3:40 p.m.

Panel version: Imported from Mitochondrial disorders panel version 0.354

Shamima Rahman (UCL Institute of Child Health)

Green List (high evidence)

Created: 8 Feb 2016, 10:30 a.m.

Panel version: Imported from Mitochondrial disorders panel version 0.37

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Choline kinase deficiency (Disorders of complex lipid synthesis)
  • Muscular dystrophy, congenital, megaconial type, 602541
OMIM
612395
Clinvar variants
Variants in CHKB
Penetrance
None
Publications
Panels with this gene

History Filter Activity

11 Feb 2021, Gel status: 3

Clear Sources

Eleanor Williams (Genomics England Curator)

Source: Expert Review Red was removed from gene: CHKB

13 Feb 2019, Gel status: 4

Added New Source, Added New Source

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to CHKB. Source London North GLH was added to CHKB.

8 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Checked against super panel made up of the panel constituents. Ready to promote to version 1.

16 Dec 2018, Gel status: 4

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Added phenotypes Muscular dystrophy, congenital, megaconial type, 602541 for gene: CHKB

16 Dec 2018, Gel status: 4

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

Ellen McDonagh (Genomics England Curator)

gene: CHKB was added gene: CHKB was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: CHKB was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CHKB were set to 27604308 Phenotypes for gene: CHKB were set to Choline kinase deficiency (Disorders of complex lipid synthesis); Muscular dystrophy, congenital, megaconial type, 602541