Likely inborn error of metabolism - targeted testing not possible
Gene: CHKBComment on list classification: This gene was demoted from Green to Red, based on the reviews of clinical experts.Created: 19 Jun 2019, 12:35 p.m.
Not a primary mitochondrial disorder but the mitochondria are abnormalCreated: 19 Jun 2019, 12:26 p.m.
Phenotypes
Muscular dystrophy, congenital, megaconial type, 602541
Red - not considered a primary mitochondrial disorder; CHKB catalyses phosphorylation of choline by ATP (important step in biosynthesis of phosphatidylcholine)Created: 11 Jun 2019, 3:59 p.m.
Phenotypes
Muscular dystrophy, congenital, megaconial type, 602541
Allelic disorder to Megaconial Congenital Muscular DystrophyCreated: 29 Aug 2018, 5:22 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Proximal myopathy with focal depletion of mitochondria
Publications
Comment on mode of inheritance: Confirmed in OMIM.Created: 26 Feb 2016, 3:40 p.m.
Comment on list classification: Green review and evidence in OMIM, green gene on the Congenital muscular dystrophy panel.Created: 26 Feb 2016, 3:40 p.m.
Source: Expert Review Red was removed from gene: CHKB
Source NHS GMS was added to CHKB. Source London North GLH was added to CHKB.
Checked against super panel made up of the panel constituents. Ready to promote to version 1.
Added phenotypes Muscular dystrophy, congenital, megaconial type, 602541 for gene: CHKB
gene: CHKB was added gene: CHKB was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: CHKB was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CHKB were set to 27604308 Phenotypes for gene: CHKB were set to Choline kinase deficiency (Disorders of complex lipid synthesis); Muscular dystrophy, congenital, megaconial type, 602541