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Limb-Girdle Muscular Dystrophy and Distal Myopathy

Gene: CHKB

Amber List (moderate evidence)
CHKB (choline kinase beta)
EnsemblGeneIds (GRCh38): ENSG00000100288
EnsemblGeneIds (GRCh37): ENSG00000100288
OMIM: 612395, Gene2Phenotype
CHKB is in 12 panels

2 reviews

Bryony Thompson (Royal Melbourne Hospital)

I don't know

3/47 affected individuals have been diagnosed with adolescent-onset limb-girdle muscular dystrophy. 2 presented with rhabdomyolysis. 1 had mild intellectual disability. Behaviour abnormalities and dilated cardiomyopathy were not observed.
Sources: Literature
Created: 2 Jun 2023, 12:42 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
megaconial type congenital muscular dystrophy MONDO:0011246; CHKB-Related Muscular Dystrophy

Publications

Created: 2 Jun 2023, 12:42 a.m.

Panel version: 0.151

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Congenital muscular dystrophy characterized by early-onset muscle wasting, intellectual disability, raised CK. Perinatal presentation. At least 15 individuals reported.
Created: 15 Nov 2021, 1:02 a.m. | Last Modified: 15 Nov 2021, 1:02 a.m.
Panel Version: 0.9730

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Muscular dystrophy, congenital, megaconial type, MIM# 602541

Publications

Created: 15 Nov 2021, 1:02 a.m.
Last Modified: 15 Nov 2021, 1:02 a.m.
Panel version: Imported from Mendeliome panel version 0.9730

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • megaconial type congenital muscular dystrophy MONDO:0011246
  • CHKB-Related Muscular Dystrophy
OMIM
612395
Clinvar variants
Variants in CHKB
Penetrance
None
Publications
Panels with this gene

History Filter Activity

2 Jun 2023, Gel status: 2

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: chkb has been classified as Amber List (Moderate Evidence).

2 Jun 2023, Gel status: 2

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: chkb has been classified as Amber List (Moderate Evidence).

2 Jun 2023, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

gene: CHKB was added gene: CHKB was added to Limb-Girdle Muscular Dystrophy and Distal Myopathy. Sources: Literature Mode of inheritance for gene: CHKB was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CHKB were set to 37011121 Phenotypes for gene: CHKB were set to megaconial type congenital muscular dystrophy MONDO:0011246; CHKB-Related Muscular Dystrophy Review for gene: CHKB was set to AMBER