Mitochondrial disorders
Gene: CHKBEnsemblGeneIds (GRCh38): ENSG00000100288
EnsemblGeneIds (GRCh37): ENSG00000100288
OMIM: 612395, Gene2Phenotype
CHKB is in 11 panels
6 reviews
Sarah Leigh (Genomics England Curator)
Comment 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.
Anna de Burca (Oxford University Hospitals NHS Foundation Trust)
Not a primary mitochondrial disorder but the mitochondria are abnormalCreated: 19 Jun 2019, 12:26 p.m.
Phenotypes
Muscular dystrophy, congenital, megaconial type, 602541
Carl Fratter (Oxford University Hospitals NHS Trust)
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
Zornitza Stark (Australian Genomics)
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
Ellen McDonagh (Genomics England Curator)
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.
Shamima Rahman (UCL Institute of Child Health)
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- Muscular dystrophy, congenital, megaconial type, 602541
- OMIM
- 612395
- Clinvar variants
- Variants in CHKB
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Likely inborn error of metabolism
- Childhood onset dystonia, chorea or related movement disorder
- Rhabdomyolysis and metabolic muscle disorders
- Intellectual disability
- Possible mitochondrial disorder - nuclear genes
- Undiagnosed metabolic disorders
- Fetal anomalies
- Arthrogryposis
- Acute rhabdomyolysis
- Congenital muscular dystrophy
- Mitochondrial disorders
History Filter Activity
Entity classified by Genomics England curator
Sarah Leigh (Genomics England Curator)Gene: chkb has been classified as Red List (Low Evidence).
Set publications
Ellen McDonagh (Genomics England Curator)Publications for gene: CHKB were set to
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Mode of inheritance for CHKB was changed to BIALLELIC, autosomal or pseudoautosomal
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Added New Source
Ellen McDonagh (Genomics England Curator)CHKB was added to All recognised syndromes and those with suggestive featurespanel. Sources: Radboud University Medical Center, Nijmegen