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Severe Paediatric Disorders

Gene: COL11A2

Green List (high evidence)

COL11A2 (collagen type XI alpha 2 chain)
EnsemblGeneIds (GRCh38): ENSG00000204248
EnsemblGeneIds (GRCh37): ENSG00000204248
OMIM: 120290, Gene2Phenotype
COL11A2 is in 16 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: COL11A2; Recommended initial gene rating: Green List (high evidence); Phenotypes: Deafness, autosomal dominant 13, 601868 (3) | Deafness, autosomal recessive 53, 609706 (3) | Fibrochondrogenesis 2, 614524 (3) | Otospondylomegaepiphyseal dysplasia, autosomal dominant, 184840 (3) | Otospondylomegaepiphyseal dysplasia, autosomal recessive, 215150 (3); Mode of inheritance: Autosomal dominant | Autosomal recessive | Autosomal recessive, Autosomal dominant | Autosomal dominant | Autosomal recessive
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 2, 614524
  • Deafness, autosomal dominant 13, 601868
  • Otospondylomegaepiphyseal dysplasia, autosomal dominant, 184840
  • Deafness, autosomal recessive 53, 609706
  • Otospondylomegaepiphyseal dysplasia, autosomal recessive, 215150
OMIM
120290
Clinvar variants
Variants in COL11A2
Penetrance
None
Publications
Panels with this gene