CHKB

choline kinase beta
OMIM: 612395, Gene2Phenotype

11 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 11 panels
Green CHKB in Rhabdomyolysis and metabolic muscle disorders Level 2: Neurology Version 6.9 Latest signed off version: v6.8 (12 Aug 2026) Component of the following Super Panels: Hypotonic infant Other rare neuromuscular disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Expert Review Expert list Phenotypes Muscular dystrophy, congenital, megaconial type, OMIM:602541
Green CHKB in Congenital muscular dystrophy Level 2: Neurology Version 7.27 Latest signed off version: v7.26 (12 Aug 2026) Component of the following Super Panels: Hypotonic infant Other rare neuromuscular disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS London South GLH Expert Review Green Emory Genetics Laboratory Radboud University Medical Center, Nijmegen Illumina TruGenome Clinical Sequencing Services Phenotypes Muscular dystrophy, congenital, megaconial type, OMIM:602541
Red CHKB in Arthrogryposis Level 2: Neurology Version 10.23 Latest signed off version: v10.16 (12 Aug 2026)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Emory Genetics Laboratory Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Expert list Phenotypes Congenital Muscular Dystrophy, CKHB-related Muscular dystrophy, congenital, megaconial type, 602541
Green CHKB in Undiagnosed metabolic disorders Level 3: Specific metabolic abnormalities Level 2: Metabolic disorders Version 1.645	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Choline kinase deficiency (Disorders of complex lipid synthesis) Muscular dystrophy, congenital, megaconial type, 602541
Green CHKB in Likely inborn error of metabolism Level 2: Metabolic Version 9.30 Latest signed off version: v9.29 (12 Aug 2026) Component of the following Super Panels: Hypotonic infant Leukodystrophy, childhood onset Paediatric disorders Unexplained death in infancy and sudden unexplained death in childhood	review	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Choline kinase deficiency (Disorders of complex lipid synthesis) Muscular dystrophy, congenital, megaconial type, 602541
Red CHKB in Possible mitochondrial disorder, nuclear genes Level 2: Mitochondrial Version 5.23 Latest signed off version: v5.17 (12 Aug 2026)	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Red Phenotypes Muscular dystrophy, congenital, megaconial type, 602541
Green CHKB in Fetal anomalies Level 2: Fetal (including NIPD) Version 8.5 Latest signed off version: v8.0 (12 Aug 2026)	review	BIALLELIC, autosomal or pseudoautosomal	Sources PAGE Additional Gene List Expert Review Green Phenotypes Muscular dystrophy, congenital, megaconial type 602541
Green CHKB in Intellectual disability Level 2: Developmental disorders Version 11.28 Latest signed off version: v11.0 (12 Aug 2026) Component of the following Super Panels: Hypotonic infant Leukodystrophy, childhood onset Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Literature Phenotypes Muscular dystrophy, congenital, megaconial type, 602541
Red CHKB in Mitochondrial disorders Level 2: Mitochondrial Version 10.23 Latest signed off version: v10.18 (12 Aug 2026) Component of the following Super Panels: Leukodystrophy, childhood onset	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Radboud University Medical Center, Nijmegen Phenotypes Muscular dystrophy, congenital, megaconial type, 602541
Red CHKB in Dystonia, chorea or related movement disorder, childhood onset Level 2: Neurology Version 8.14 Latest signed off version: v8.13 (12 Aug 2026)	review	Not set	Sources Expert Review Red London North GLH
Green CHKB in Acute rhabdomyolysis Level 2: Neurology Version 3.1 Latest signed off version: v3.0 (12 Aug 2026)	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Phenotypes Muscular dystrophy, congenital, megaconial type, OMIM:602541