Congenital muscular dystrophy
Gene: COL6A1
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
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Bethlem myopathy, 158810; Ullrich congenital muscular dystrophy, 254090
Publications
Variants in this GENE are reported as part of current diagnostic practice
Comment when marking as ready: >3 families or cases reported, and expert review green.Created: 11 Jan 2017, 12:13 p.m.
Comment on mode of inheritance: Some reports of homozygous variants in patients with Ullrich congenital muscular dystrophy 1.Created: 11 Jan 2017, 12:12 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Bethlem myopathy; Ullrich Congenital Muscular Dystrophy; Bethlem myopathy, 158810Ullrich congenital muscular dystrophy, 254090{Ossification of the posterior longitudinal spinal ligaments}, 602475 (2)
Source was removed from COL6A1.
Phenotypes for gene: COL6A1 were changed from Bethlem myopathy, 158810; Ullrich congenital muscular dystrophy, 254090 to Bethlem myopathy 1, OMIM:158810; Ullrich congenital muscular dystrophy 1, OMIM:254090
Publications for gene COL6A1 were changed from to 15955946; 23738969; 25535305
Source NHS GMS was added to COL6A1.
Source London South GLH was added to COL6A1. 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).
Phenotypes for COL6A1 were set to Bethlem myopathy, 158810;Ullrich congenital muscular dystrophy, 254090
Mode of inheritance for COL6A1 was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
COL6A1 was added to Congenital muscular dystrophypanel. Source:
Model of inheritance for gene COL6A1 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
COL6A1 was added to Congenital muscular dystrophypanel. Sources: UKGTN,Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen
Model of inheritance for gene COL6A1 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
COL6A1 was added to Congenital muscular dystrophypanel. Sources: UKGTN,Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen
COL6A1 was added to Congenital muscular dystrophypanel. Sources: UKGTN,Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen