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Research panel - 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 15 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
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

History Filter Activity

21 Feb 2020, Gel status: 3

Set mode of inheritance

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene COL11A2 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

20 Feb 2020, Gel status: 3

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene COL11A2 were updated from to 30847515

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Fibrochondrogenesis 2, 614524; Deafness, autosomal dominant 13, 601868; Otospondylomegaepiphyseal dysplasia, autosomal dominant, 184840; Deafness, autosomal recessive 53, 609706; Otospondylomegaepiphyseal dysplasia, autosomal recessive, 215150 for gene: COL11A2

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Fibrochondrogenesis 2, 614524; Deafness, autosomal dominant 13, 601868; Otospondylomegaepiphyseal dysplasia, autosomal dominant, 184840; Deafness, autosomal recessive 53, 609706; Otospondylomegaepiphyseal dysplasia, autosomal recessive, 215150 for gene: COL11A2

19 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Fibrochondrogenesis 2, 614524; Deafness, autosomal dominant 13, 601868; Otospondylomegaepiphyseal dysplasia, autosomal dominant, 184840; Deafness, autosomal recessive 53, 609706; Otospondylomegaepiphyseal dysplasia, autosomal recessive, 215150 for gene: COL11A2

19 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Otospondylomegaepiphyseal dysplasia, autosomal recessive, 215150; Deafness, autosomal recessive 53, 609706; Fibrochondrogenesis 2, 614524; Otospondylomegaepiphyseal dysplasia, autosomal dominant, 184840; Deafness, autosomal dominant 13, 601868 for gene: COL11A2

14 Feb 2020, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source Next Generation Children Project was added to COL11A2.

14 Feb 2020, Gel status: 3

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

Source Expert Review Green was added to COL11A2. Rating Changed from Red List (low evidence) to Green List (high evidence)

14 Feb 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

gene: COL11A2 was added gene: COL11A2 was added to Severe Paediatric Disorders. Sources: Expert list Mode of inheritance for gene: COL11A2 was set to