Genomics England
GMS Panels
Panels
Genes and Entities

CHKB

choline kinase beta
OMIM: 612395
PanelMode of inheritanceDetails
5 panels
Green
in Acute rhabdomyolysis
R-numbers: R419
Signed-off version 1.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Muscular dystrophy, congenital, megaconial type, OMIM:602541
Green
in Congenital muscular dystrophy
Component of the following Super Panels:
  • - Hypotonic infant
  • - Neuromuscular disorders
R-numbers: R79
Signed-off version 3.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Congenital Muscular Dystrophy, CKHB-related, Muscular dystrophy, congenital, megaconial type, 602541
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 2.4
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Muscular dystrophy, congenital, megaconial type 602541
Green
in Inborn errors of metabolism
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R98
Signed-off version 3.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Choline kinase deficiency (Disorders of complex lipid synthesis), Muscular dystrophy, congenital, megaconial type, 602541
Green
in Intellectual disability
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 4.4
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Muscular dystrophy, congenital, megaconial type, 602541