Congenital myopathy
Gene: COL6A3EnsemblGeneIds (GRCh38): ENSG00000163359
EnsemblGeneIds (GRCh37): ENSG00000163359
OMIM: 120250, Gene2Phenotype
COL6A3 is in 11 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, 158810Ullrich 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, 158810Ullrich congenital muscular dystrophy, 254090
Publications
Helen Brittain (Genomics England Curator)
Many reported cases. Overlapping phenotype between Bethlem myopathy and Ullrich CMD therefore included.Created: 26 Jan 2017, 10:05 a.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Bethlem myopathy 1 158810; Dystonia 27 616411; Ullrich congenital muscular dystrophy 1
Publications
- PMID 15689448
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, OMIM:158810
- Ullrich congenital muscular dystrophy, OMIM:254090
- OMIM
- 120250
- Clinvar variants
- Variants in COL6A3
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- DDG2P
- Congenital myopathy
- Structural eye disease
- Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
- Arthrogryposis
- Intellectual disability
- Ehlers Danlos syndrome with a likely monogenic cause
- Fetal anomalies
- Congenital muscular dystrophy
- Bilateral congenital or childhood onset cataracts
- Childhood onset dystonia, chorea or related movement disorder
History Filter Activity
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: COL6A3 were changed from Bethlem myopathy, 158810; Ullrich congenital muscular dystrophy, 254090 to Bethlem myopathy, OMIM:158810; Ullrich congenital muscular dystrophy, OMIM:254090
Set Phenotypes
Louise Daugherty (Genomics England Curator)Phenotypes for gene: COL6A3 were changed from Bethlem myopathy, 158810Ullrich congenital muscular dystrophy, 254090 to Bethlem myopathy, 158810; Ullrich congenital muscular dystrophy, 254090
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to COL6A3.
Added New Source, Status Update
Louise Daugherty (Genomics England Curator)Source London South GLH was added to COL6A3. 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.
Set Mode of Inheritance
Helen Brittain (Genomics England Curator)Mode of inheritance for COL6A3 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 publications
Helen Brittain (Genomics England Curator)Publications for COL6A3 were set to 15689448
Added New Source
GEL ()COL6A3 was added to Congenital myopathypanel. Sources: UKGTN
Added New Source
GEL ()COL6A3 was added to Congenital myopathypanel. Sources: Radboud University Medical Center, Nijmegen
Added New Source
GEL ()COL6A3 was added to Congenital myopathypanel. Sources: Emory Genetics Laboratory