Congenital muscular dystrophy and 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
-
- London South GLH
- Radboud University Medical Center, Nijmegen
- Expert Review Green
- Emory Genetics Laboratory
- UKGTN
- NHS GMS
- 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
-
- Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
- Intellectual disability
- Bilateral congenital or childhood onset cataracts
- Congenital myopathy
- Fetal anomalies
- DDG2P
- Structural eye disease
- Arthrogryposis
- Ehlers Danlos syndrome with a likely monogenic cause
- Congenital muscular dystrophy
- Childhood onset dystonia, chorea or related movement disorder
History Filter Activity
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set penetrance
Arina Puzriakova (Genomics England Curator)gene: COL6A3 was added gene: COL6A3 was added to Congenital muscular dystrophy and congenital myopathy. Sources: NHS GMS,UKGTN,Emory Genetics Laboratory,Expert Review Green,Radboud University Medical Center, Nijmegen,London South GLH Mode of inheritance for gene: COL6A3 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: COL6A3 were set to 15689448 Phenotypes for gene: COL6A3 were set to Bethlem myopathy, OMIM:158810; Ullrich congenital muscular dystrophy, OMIM:254090 Penetrance for gene: COL6A3 were set to Complete