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Intellectual disability syndromic and non-syndromic

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

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, 1:03 a.m. | Last Modified: 15 Nov 2021, 1:03 a.m.
Panel Version: 0.4275

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

History Filter Activity

15 Nov 2021, 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).

15 Nov 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

15 Nov 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: CHKB were set to

15 Nov 2021, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: CHKB was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

22 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: CHKB was added gene: CHKB was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: CHKB was set to Unknown