Rhabdomyolysis and metabolic muscle disorders
Gene: CHKB
The rating of this gene has been updated to green and the mode of inheritance set to "BIALLELIC, autosomal or pseudoautosomal" following NHS Genomic Medicine Service approval.Created: 11 Oct 2023, 11:17 a.m. | Last Modified: 11 Oct 2023, 11:41 a.m.
Panel Version: 3.37
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Comment on list classification: This gene is proposed for promotion to green rating as it is already green on the acute rhabdomyolysis panel (R419, https://panelapp.genomicsengland.co.uk/panels/1141/) based on recommendation by the NHS Genomic Medicine Service.Created: 23 Aug 2023, 11:37 a.m. | Last Modified: 23 Aug 2023, 12:43 p.m.
Panel Version: 3.19
CHKB encodes choline kinase beta enzyme and it has been associated with congenital muscular dystrophy in OMIM (MIM #602541).
PMID:37011121 - 44 cases with biallelic CHKB variants had congenital muscular dystrophy and 3 cases had limb-girdle muscular dystrophy. Of these 3 cases with LGMD, two had presented with adolescent- or adult-onset rhabdomyolysis.
Sources: Expert list, Expert ReviewCreated: 23 Aug 2023, 11:24 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Muscular dystrophy, congenital, megaconial type, OMIM:602541
Publications
Tag Q3_23_promote_green was removed from gene: CHKB. Tag Q3_23_NHS_review was removed from gene: CHKB.
Source Expert Review Green was added to CHKB. Source NHS GMS was added to CHKB. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Gene: chkb has been classified as Amber List (Moderate Evidence).
Tag Q3_23_promote_green tag was added to gene: CHKB. Tag Q3_23_NHS_review tag was added to gene: CHKB.
gene: CHKB was added gene: CHKB was added to Rhabdomyolysis and metabolic muscle disorders. Sources: Expert list,Expert Review Mode of inheritance for gene: CHKB was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CHKB were set to 37011121 Phenotypes for gene: CHKB were set to Muscular dystrophy, congenital, megaconial type, OMIM:602541 Review for gene: CHKB was set to GREEN