Congenital muscular dystrophy
Gene: CHKB
Initial gene list (Congenital Muscular Dystrophy Gene Panel 207-London South GLH.xlsx) collated by Rachael Mein, Viapath Guy's Hospital February 2019 on behalf of London South GLH for the GMS Neurology specialist test group.Created: 29 Apr 2019, 3:37 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Congenital Muscular Dystrophy, CKHB-related; Muscular dystrophy, congenital, megaconial type, 602541
Publications
Variants in this GENE are reported as part of current diagnostic practice
Comment when marking as ready: >3 cases reported, and expert review green.Created: 11 Jan 2017, 11:57 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Congenital Muscular Dystrophy, CKHB-related; Muscular dystrophy, congenital, megaconial type, 602541
Source was removed from CHKB.
Publications for gene: CHKB were set to 16371353, 21665002
Phenotypes for gene: CHKB were changed from Congenital Muscular Dystrophy, CKHB-related; Muscular dystrophy, congenital, megaconial type, 602541 to Muscular dystrophy, congenital, megaconial type, OMIM:602541
Publications for gene CHKB were changed from to 16371353, 21665002
Source NHS GMS was added to CHKB.
Source London South GLH was added to CHKB. Rating Changed from Green List (high evidence) to Green List (high evidence)
27.01.2017 Panel revised after expert review and internal review with further curation.
This gene has been classified as Green List (High Evidence).
CHKB was added to Congenital muscular dystrophypanel. Source:
Model of inheritance for gene CHKB was changed to BIALLELIC, autosomal or pseudoautosomal
CHKB was added to Congenital muscular dystrophypanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory
Model of inheritance for gene CHKB was changed to BIALLELIC, autosomal or pseudoautosomal
CHKB was added to Congenital muscular dystrophypanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory
CHKB was added to Congenital muscular dystrophypanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory