Muscular dystrophy and myopathy_Paediatric
Gene: CHKB
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
At least 15 patients reported with congenital muscular dystrophy
Sources: Expert ReviewCreated: 24 Feb 2020, 2:26 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Muscular dystrophy, congenital, megaconial type MIM#602541
Publications
Gene: chkb has been classified as Green List (High Evidence).
Phenotypes for gene: CHKB were changed from to Muscular dystrophy, congenital, megaconial type, MIM# 602541
Publications for gene: CHKB were set to
Mode of inheritance for gene: CHKB was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
gene: CHKB was added gene: CHKB was added to Muscular dystrophy_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: CHKB was set to Unknown