Research panel - Severe Paediatric Disorders
Gene: COL6A3

COL6A3 (collagen type VI alpha 3 chain)
EnsemblGeneIds (GRCh38): ENSG00000163359
EnsemblGeneIds (GRCh37): ENSG00000163359
OMIM: 120250, Gene2Phenotype
COL6A3 is in 11 panels

1 review

Louise Daugherty (Genomics England Curator)

I don't know

Initial gene list (NGC_genelist-20190823_GREEN_dis_moi_forCuration_20200211.xlsx) collated by Dr Courtney French (University of Cambridge University Hospital NHS Foundation), Dr Karyn Megy (Clinical Feedback Lead, NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation), Dr Alba Sanchis-Juan (NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation) and Lucy Raymond (Professor of Medical Genetics and Neurodevelopment, University of Cambridge University Hospital NHS Foundation). Submitted to the PanelApp resource January 2020 on behalf of the Next Generation Children Project, Addenbrookes' Hospital, Cambridge. Gene Symbol submitted: COL6A3; Recommended initial gene rating: Green List (high evidence); Phenotypes: Bethlem myopathy 1, 158810 (3) | Dystonia 27, 616411 (3) | Ullrich congenital muscular dystrophy 1, 254090 (3); Mode of inheritance: Autosomal recessive, Autosomal dominant | Autosomal recessive | Autosomal recessive, Autosomal dominant
Created: 20 Feb 2020, 5:17 p.m. | Last Modified: 20 Feb 2020, 5:17 p.m.

Panel Version: 0.12

Created: 20 Feb 2020, 5:17 p.m.
Last Modified: 20 Feb 2020, 5:17 p.m.
Panel version: 0.12

Details

Mode of Inheritance

BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Sources

Next Generation Children Project
Expert Review Green
Expert list

Phenotypes

Bethlem myopathy 1, 158810
Ullrich congenital muscular dystrophy 1, 254090
Dystonia 27, 616411

OMIM

120250

Clinvar variants

Variants in COL6A3

Penetrance

None

Publications

30847515

Panels with this gene