Mitochondrial disease
Gene: CHKBEnsemblGeneIds (GRCh38): ENSG00000100288
EnsemblGeneIds (GRCh37): ENSG00000100288
OMIM: 612395, Gene2Phenotype
CHKB is in 12 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Congenital muscular dystrophy characterized by early-onset muscle wasting, intellectual disability, and enlarged mitochondria that are prevalent toward the periphery of the fibers but are sparse in the center on muscle biopsy.
Sources: Expert listCreated: 12 Apr 2020, 6:53 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Muscular dystrophy, congenital, megaconial type, MIM# 602541; Intellectual disability; Abnormal mitochondria
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert list
- Phenotypes
-
- Muscular dystrophy, congenital, megaconial type, MIM# 602541
- Intellectual disability
- Abnormal mitochondria
- OMIM
- 612395
- Clinvar variants
- Variants in CHKB
- Penetrance
- None
- Publications
- Panels with this gene
-
- Rhabdomyolysis and Metabolic Myopathy
- Mackenzie's Mission_Reproductive Carrier Screening
- Limb-Girdle Muscular Dystrophy and Distal Myopathy
- Fetal anomalies
- Additional findings_Paediatric
- Prepair 1000+
- Mendeliome
- BabyScreen+ newborn screening
- Mitochondrial disease
- Intellectual disability syndromic and non-syndromic
- Autism
- Muscular dystrophy and myopathy_Paediatric
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: chkb has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: chkb has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: CHKB was added gene: CHKB was added to Mitochondrial disease. Sources: Expert list Mode of inheritance for gene: CHKB was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CHKB were set to 21665002; 23692895; 24997086 Phenotypes for gene: CHKB were set to Muscular dystrophy, congenital, megaconial type, MIM# 602541; Intellectual disability; Abnormal mitochondria Review for gene: CHKB was set to GREEN