Rhabdomyolysis and Metabolic Myopathy
Gene: CHKB

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

2/47 cases have presented with rhabdomyolysis. It is a rare occurrence in this rare condition.
Created: 2 Jun 2023, 12:38 a.m. | Last Modified: 2 Jun 2023, 12:38 a.m.

Panel Version: 0.178

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

37011121

Created: 2 Jun 2023, 12:38 a.m.
Last Modified: 2 Jun 2023, 12:38 a.m.
Panel version: 0.178

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
Expert list
Victorian Clinical Genetics Services

Phenotypes

megaconial type congenital muscular dystrophy MONDO:0011246
recurrent rhabdomyolysis
CHKB-Related Muscular Dystrophy

OMIM

612395

Clinvar variants

Variants in CHKB

Penetrance

None

Publications

Panels with this gene