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Prepair 1000+

Gene: CHKB

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

1 review

Karina Sandoval (Victorian Clinical Genetics Services)

Green List (high evidence)

Congenital muscular dystrophy characterized by early-onset muscle wasting, intellectual disability, raised CK, and enlarged mitochondria that are prevalent toward the periphery of the fibers but are sparse in the center on muscle biopsy. Perinatal presentation. At least 15 individuals reported.

Congenital onset.

No specific treatment.
Created: 11 Dec 2024, 1:11 a.m. | Last Modified: 11 Dec 2024, 1:11 a.m.
Panel Version: 1.633

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

Created: 11 Dec 2024, 1:11 a.m.
Last Modified: 11 Dec 2024, 1:11 a.m.
Panel version: 1.633

History Filter Activity

13 Dec 2024, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: chkb has been classified as Green List (High Evidence).

13 Dec 2024, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: CHKB were changed from Muscular dystrophy, congenital, megaconial type, 602541 (3) to Muscular dystrophy, congenital, megaconial type, MIM#602541

13 Dec 2024, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: CHKB were set to

1 Jun 2022, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: CHKB was added gene: CHKB was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green 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 (3)