Genes in panel
Regions in panel
Prev Next

Intellectual disability

Gene: CHKB

Green List (high evidence)

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

3 reviews

Ivone Leong (Genomics England Curator)

Comment on list classification: Promoted from red to green based on expert review. CHKB is associated with a phenotype in OMIM but not in Gene2Phenotype. There are >10 unrelated cases with different variants reported in the literature of patients with congenital muscular dystrophy who also have intellectual disability.
Created: 24 Jun 2019, 4:14 p.m. | Last Modified: 24 Jun 2019, 4:14 p.m.
Panel Version: 2.883

Louise Daugherty (Genomics England Curator)

Comment on phenotypes: added OMIM MIMid
Created: 1 Oct 2018, 3:55 p.m.

Zornitza Stark (Australian Genomics)

Over 10 families reported in the literature with biallelic variants, ID is part of the phenotype.
Created: 22 Jun 2018, 10:32 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Muscular dystrophy, congenital, megaconial type

Publications

Variants in this GENE are reported as part of current diagnostic practice

History Filter Activity

24 Jun 2019, Gel status: 3

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

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

24 Jun 2019, Gel status: 1

Set publications

Ivone Leong (Genomics England Curator)

Publications for gene: CHKB were set to 21665002

1 Oct 2018, Gel status: 1

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: CHKB were changed from Muscular dystrophy, congenital, megaconial type to Muscular dystrophy, congenital, megaconial type, 602541

28 Sep 2018, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source Victorian Clinical Genetics Services was added to CHKB.

22 Jun 2018, Gel status: 0

Added New Source

Zornitza Stark (Australian Genomics)

CHKB was added to Intellectual disability panel. Sources: Literature

22 Jun 2018, Gel status: 0

Created

Zornitza Stark (Australian Genomics)

CHKB was created by Zornitza Stark