Muscular dystrophy and myopathy_Paediatric
Gene: CHKB

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

2 reviews

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

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

At least 15 patients reported with congenital muscular dystrophy
Sources: Expert Review
Created: 24 Feb 2020, 2:26 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Muscular dystrophy, congenital, megaconial type MIM#602541

Publications

21665002

Created: 24 Feb 2020, 2:26 a.m.

Panel version: Imported from Myopathy - paediatric onset panel version 0.42

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Expert Review
Victorian Clinical Genetics Services
Victorian Clinical Genetics Services

Phenotypes

Muscular dystrophy, congenital, megaconial type, MIM# 602541

OMIM

612395

Clinvar variants

Variants in CHKB

Penetrance

None

Publications

Panels with this gene