Genomics England
GMS Panels
Panels
Genes and Entities

CHKB

choline kinase beta
OMIM: 612395
PanelMode of inheritanceDetails
6 panels
Green
in Acute rhabdomyolysis
R-numbers: R419
Signed-off version 1.7
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
  • - Other rare neuromuscular disorders
R-numbers: R79
Signed-off version 4.15
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Muscular dystrophy, congenital, megaconial type, OMIM:602541
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 3.122
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Muscular dystrophy, congenital, megaconial type 602541
Green
in Intellectual disability
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 5.343
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Muscular dystrophy, congenital, megaconial type, 602541
Green
in Likely inborn error of metabolism - targeted testing not possible
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R98
Signed-off version 4.78
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Choline kinase deficiency (Disorders of complex lipid synthesis), Muscular dystrophy, congenital, megaconial type, 602541
Green
in Rhabdomyolysis and metabolic muscle disorders
Component of the following Super Panels:
  • - Hypotonic infant
  • - Other rare neuromuscular disorders
Signed-off version 3.39
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Muscular dystrophy, congenital, megaconial type, OMIM:602541