Genomics England

CHKB

choline kinase beta

Panel	Mode of inheritance	Details
Filter panels6 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 and congenital myopathy Component of the following Super Panels: - Hypotonic infant - Other rare neuromuscular disorders R-numbers: R432 Signed-off version 1.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Muscular dystrophy, congenital, megaconial type, OMIM:602541
Green in Fetal anomalies R-numbers: R21, R412 Signed-off version 4.0	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 6.13	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Muscular dystrophy, congenital, megaconial type, 602541
Green in Likely inborn error of metabolism 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 5.6	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 4.4	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Muscular dystrophy, congenital, megaconial type, OMIM:602541