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Molecular autopsy

Gene: CHKB

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

0 reviews

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Choline kinase deficiency (Disorders of complex lipid synthesis)
  • Congenital Muscular Dystrophy, CKHB-related
  • Muscular dystrophy, congenital, megaconial type, 602541
OMIM
612395
Clinvar variants
Variants in CHKB
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 Dec 2018, Gel status: 4

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Added phenotypes Muscular dystrophy, congenital, megaconial type, 602541 for gene: CHKB

20 Dec 2018, Gel status: 4

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Added phenotypes Choline kinase deficiency (Disorders of complex lipid synthesis); Muscular dystrophy, congenital, megaconial type, 602541 for gene: CHKB

20 Dec 2018, Gel status: 4

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

Ellen McDonagh (Genomics England Curator)

gene: CHKB was added gene: CHKB was added to Molecular autopsy. Sources: Expert Review Green Mode of inheritance for gene: CHKB was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CHKB were set to 27604308 Phenotypes for gene: CHKB were set to Choline kinase deficiency (Disorders of complex lipid synthesis); Congenital Muscular Dystrophy, CKHB-related; Muscular dystrophy, congenital, megaconial type, 602541