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Severe Paediatric Disorders

Gene: COL11A1

Green List (high evidence)

COL11A1 (collagen type XI alpha 1 chain)
EnsemblGeneIds (GRCh38): ENSG00000060718
EnsemblGeneIds (GRCh37): ENSG00000060718
OMIM: 120280, Gene2Phenotype
COL11A1 is in 19 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: COL11A1; Recommended initial gene rating: Green List (high evidence); Phenotypes: ?Deafness, autosomal dominant 37, 618533 (3) | Fibrochondrogenesis 1, 228520 (3) | Marshall syndrome, 154780 (3) | Stickler syndrome, type II, 604841 (3); Mode of inheritance: ND | Autosomal recessive | Autosomal dominant | Autosomal dominant
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
  • Fibrochondrogenesis 1, 228520
  • ?Deafness, autosomal dominant 37, 618533
  • Stickler syndrome, type II, 604841
  • Marshall syndrome, 154780
OMIM
120280
Clinvar variants
Variants in COL11A1
Penetrance
None
Publications
Panels with this gene