1. Panels
  2. Stickler syndrome
  3. COL11A2
STRs in panel
Prev Next
Regions in panel
Prev Next

Stickler syndrome

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

5 reviews

Arina Puzriakova (Genomics England Curator)

The recent MOI update on this panel was done following an audit of genes with different MOIs on component panels of the same superpanel. These were reviewed by the curation team accounting for respective panel scope and final MOIs were validated by the Genomics England clinical team.
Created: 3 Aug 2022, 3:35 p.m. | Last Modified: 3 Aug 2022, 3:35 p.m.
Panel Version: 2.27
The mode of inheritance of this gene has been updated following NHS Genomic Medicine Service approval.
Created: 9 Mar 2022, 12:20 p.m. | Last Modified: 9 Mar 2022, 12:20 p.m.
Panel Version: 2.26
Created: 9 Mar 2022, 12:20 p.m.
Last Modified: 9 Mar 2022, 12:20 p.m.
Panel version: 2.27

Ivone Leong (Genomics England Curator)

Comment on phenotypes: Previous phenotypes:
Stickler Syndrome, Dominant;Stickler syndrome, type III, 184840;Otospondylomegaepiphyseal dysplasia, 215150;Weissenbacher-Zweymuller syndrome, 277610;Deafness, autosomal dominant 13, 601868;Deafness, autosomal recessive 53, 609706;Fibrochondrogenesis 2, 614524
Created: 3 Mar 2021, 4:22 p.m. | Last Modified: 3 Mar 2021, 4:22 p.m.
Panel Version: 2.7
Created: 3 Mar 2021, 4:22 p.m.
Last Modified: 3 Mar 2021, 4:22 p.m.
Panel version: 2.7

Ellen McDonagh (Genomics England Curator)

Comment on mode of inheritance: Checked imprinting gene list.
Created: 1 Feb 2016, 10:05 a.m.
Created: 1 Feb 2016, 10:05 a.m.

Panel version: 1.11

Caroline Wright (Genomics England Curator)

Comment when marking as ready: OMIM identifies several patients with LOF mutations
Created: 17 Dec 2015, 11:31 a.m.
Created: 17 Dec 2015, 11:31 a.m.

Panel version: 0.2

allan richards (University of Cambridge)

Green List (high evidence)

Splice site mutations and missense substitutions of Glycines within the repeating Gly-Xaa-Yaa amino acid sequence of the collagen are pathogenic
Created: 16 Oct 2015, 10:26 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Mode of pathogenicity
Other

Created: 16 Oct 2015, 10:26 a.m.

Panel version: 0

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Otospondylomegaepiphyseal dysplasia, autosomal dominant, OMIM:184840
  • Otospondylomegaepiphyseal dysplasia, autosomal recessive, OMIM:215150
OMIM
120290
Clinvar variants
Variants in COL11A2
Penetrance
Complete
Panels with this gene

History Filter Activity

9 Mar 2022, Gel status: 3

Set mode of inheritance

Arina Puzriakova (Genomics England Curator)

Mode of inheritance for gene COL11A2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

9 Feb 2022, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: COL11A2 were changed from Otospondylomegaepiphyseal dysplasia, autosomal dominant, OMIM:184840 to Otospondylomegaepiphyseal dysplasia, autosomal dominant, OMIM:184840; Otospondylomegaepiphyseal dysplasia, autosomal recessive, OMIM:215150

3 Mar 2021, Gel status: 3

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: COL11A2 were changed from Stickler Syndrome, Dominant; Stickler syndrome, type III, 184840; Otospondylomegaepiphyseal dysplasia, 215150; Weissenbacher-Zweymuller syndrome, 277610; Deafness, autosomal dominant 13, 601868; Deafness, autosomal recessive 53, 609706; Fibrochondrogenesis 2, 614524 to Otospondylomegaepiphyseal dysplasia, autosomal dominant, OMIM:184840

1 Feb 2016, Gel status: 4

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for COL11A2 were set to Stickler Syndrome, Dominant; Stickler syndrome, type III, 184840; Otospondylomegaepiphyseal dysplasia, 215150; Weissenbacher-Zweymuller syndrome, 277610; Deafness, autosomal dominant 13, 601868; Deafness, autosomal recessive 53, 609706; Fibrochondrogenesis 2, 614524

1 Feb 2016, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for COL11A2 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

17 Dec 2015, Gel status: 4

Gene classified by Genomics England curator

Caroline Wright (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

6 May 2015, Gel status: 4

Added New Source

Eik Haraldsdottir (Genomics England)

COL11A2 was added to Stickler syndromepanel. Sources: Emory Genetics Laboratory

6 May 2015, Gel status: 3

Added New Source

Eik Haraldsdottir (Genomics England)

COL11A2 was added to Stickler syndromepanel. Sources: Radboud University Medical Center, Nijmegen

6 May 2015, Gel status: 2

Added New Source

Eik Haraldsdottir (Genomics England)

COL11A2 was added to Stickler syndromepanel. Sources: UKGTN

6 May 2015, Gel status: 1

Added New Source

Eik Haraldsdottir (Genomics England)

COL11A2 was added to Stickler syndromepanel. Sources: Illumina TruGenome Clinical Sequencing Services