Congenital myopathy
Gene: COL6A1EnsemblGeneIds (GRCh38): ENSG00000142156
EnsemblGeneIds (GRCh37): ENSG00000142156
OMIM: 120220, Gene2Phenotype
COL6A1 is in 8 panels
4 reviews
Louise Daugherty (Genomics England Curator)
Gene rating and review submitted by Rachael Mein, Viapath Guy's Hospital February 2019 on on behalf of London South GLH for the GMS Neurology specialist test group.Created: 30 Apr 2019, 10:09 a.m.
Rachael Mein (Viapath at Guy's Hospital)
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
Anna Sarkozy (Great Ormond Street Hospital)
the col6 genes are in the Congenital muscular dystrophy panelCreated: 6 Mar 2017, 12:14 p.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Bethlem myopathy, 158810; Ullrich congenital muscular dystrophy, 254090
Publications
Helen Brittain (Genomics England Curator)
Comment when marking as ready: Mode of inheritance addedCreated: 22 Feb 2017, 12:20 p.m.
Comment when marking as ready: Clear evidence. Overlap with Ullrich CMDCreated: 2 Feb 2017, 11:22 a.m.
Also causes Ulrich Congenital Muscular Dystrophy. Note that missense mutations / splice mutations that cause in-frame deletions are commonest, although rarely truncating mutations have been reported. Also, the commonest MOI is monoallelic, however biallelic cases are reported.Created: 24 Jan 2017, 2:07 p.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Bethlem myopathy 1
Publications
Details
- Mode of Inheritance
- BOTH monoallelic and biallelic, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- London South GLH
- Expert Review Green
- UKGTN
- Radboud University Medical Center, Nijmegen
- Emory Genetics Laboratory
- Phenotypes
-
- Bethlem myopathy 1, OMIM:158810
- Ullrich congenital muscular dystrophy 1, OMIM:254090
- OMIM
- 120220
- Clinvar variants
- Variants in COL6A1
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
Set Phenotypes
Arina Puzriakova (Genomics England Curator)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
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to COL6A1.
Added New Source, Status Update
Louise Daugherty (Genomics England Curator)Source London South GLH was added to COL6A1. Rating Changed from Green List (high evidence) to Green List (high evidence)
panel promoted to version 1
Helen Brittain (Genomics England Curator)Promoted 22/02/2017 after curation discussion and further review with members of the Genomics England curation team. Participants who are offered this panel will automatically be offered the following three panels: 1) Congenital muscular dystrophy 2) Congenital myasthenia and 3) Paediatric motor neuronopathy as this will cover a large range of differentials for a weak infant, for where the strict inclusion criteria are not applicable in view of the availability of muscle biopsy testing in peripheral paediatric units.
Gene classified by Genomics England curator
Helen Brittain (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Mode of Inheritance
Helen Brittain (Genomics England Curator)Mode of inheritance for COL6A1 was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Gene classified by Genomics England curator
Helen Brittain (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Phenotypes
Helen Brittain (Genomics England Curator)Phenotypes for COL6A1 were set to Bethlem myopathy, 158810; Ullrich congenital muscular dystrophy, 254090
Set publications
Helen Brittain (Genomics England Curator)Publications for COL6A1 were set to 25535305; 15955946; 23738969
Added New Source
GEL ()COL6A1 was added to Congenital myopathypanel. Sources: UKGTN
Added New Source
GEL ()COL6A1 was added to Congenital myopathypanel. Sources: Radboud University Medical Center, Nijmegen
Added New Source
GEL ()COL6A1 was added to Congenital myopathypanel. Sources: Emory Genetics Laboratory