Congenital muscular dystrophy
Gene: COL6A3EnsemblGeneIds (GRCh38): ENSG00000163359
EnsemblGeneIds (GRCh37): ENSG00000163359
OMIM: 120250, Gene2Phenotype
COL6A3 is in 11 panels
4 reviews
Louise Daugherty (Genomics England Curator)
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.
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
Ellen McDonagh (Genomics England Curator)
Comment when marking as ready: Expert review green and >3 cases/family reports.Created: 11 Jan 2017, 12:19 p.m.
Emma Clement (Great Ormond Street Hospital)
Phenotypes
Bethlem myopathy, 158810Ullrich congenital muscular dystrophy, 254090
Details
- Mode of Inheritance
- BOTH monoallelic and biallelic, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- London South GLH
- Expert Review Green
- Radboud University Medical Center, Nijmegen
- Emory Genetics Laboratory
- UKGTN
- 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
- Fetal anomalies
- Congenital myopathy
- Structural eye disease
- Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
- Arthrogryposis
- Ehlers Danlos syndrome with a likely monogenic cause
- Congenital muscular dystrophy
- Bilateral congenital or childhood onset cataracts
- Intellectual disability
- 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 publications
Louise Daugherty (Genomics England Curator)Publications for gene COL6A3 were changed from to 15689448
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
Ellen McDonagh (Genomics England Curator)27.01.2017 Panel revised after expert review and internal review with further curation.
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for COL6A3 were set to Bethlem myopathy, 158810;Ullrich congenital muscular dystrophy, 254090
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Mode of inheritance for COL6A3 was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added New Source
Ellen McDonagh (Genomics England Curator)COL6A3 was added to Congenital muscular dystrophypanel. Source:
Added New Source
Ellen McDonagh (Genomics England Curator)COL6A3 was added to Congenital muscular dystrophypanel. Sources: UKGTN,Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen
Added New Source
Ellen McDonagh (Genomics England Curator)COL6A3 was added to Congenital muscular dystrophypanel. Sources: UKGTN,Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen
Added New Source
Ellen McDonagh (Genomics England Curator)COL6A3 was added to Congenital muscular dystrophypanel. Sources: UKGTN,Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen