Mitochondrial disorders
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.
Gene: chkb has been classified as Red List (Low Evidence).
Publications for gene: CHKB were set to
Mode of inheritance for CHKB was changed to BIALLELIC, autosomal or pseudoautosomal
This gene has been classified as Green List (High Evidence).
CHKB was added to All recognised syndromes and those with suggestive featurespanel. Sources: Radboud University Medical Center, Nijmegen