Rhabdomyolysis and Metabolic Myopathy
Gene: CHKB
2/47 cases have presented with rhabdomyolysis. It is a rare occurrence in this rare condition.Created: 2 Jun 2023, 12:38 a.m. | Last Modified: 2 Jun 2023, 12:38 a.m.
Panel Version: 0.178
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
megaconial type congenital muscular dystrophy MONDO:0011246; recurrent rhabdomyolysis; CHKB-Related Muscular Dystrophy
Publications
Congenital muscular dystrophy characterized by early-onset muscle wasting, intellectual disability, raised CK. Perinatal presentation. At least 15 individuals reported.Created: 15 Nov 2021, 1:02 a.m. | Last Modified: 15 Nov 2021, 1:02 a.m.
Panel Version: 0.9730
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Muscular dystrophy, congenital, megaconial type, MIM# 602541
Publications
Phenotypes for gene: CHKB were changed from Muscular dystrophy, congenital, megaconial type MIM#602541 to megaconial type congenital muscular dystrophy MONDO:0011246; recurrent rhabdomyolysis; CHKB-Related Muscular Dystrophy
Publications for gene: CHKB were set to 26782016
Gene: chkb has been classified as Amber List (Moderate Evidence).
Gene: chkb has been classified as Red List (Low Evidence).
gene: CHKB was added gene: CHKB was added to Rhabdomyolysis RMH. Sources: Expert list Mode of inheritance for gene: CHKB was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CHKB were set to 26782016 Phenotypes for gene: CHKB were set to Muscular dystrophy, congenital, megaconial type MIM#602541 Review for gene: CHKB was set to RED