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 16 panels

4 reviews

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

Ellen McDonagh (Genomics England Curator)

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

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.

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

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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
OMIM
120290
Clinvar variants
Variants in COL11A2
Penetrance
Complete
Panels with this gene

History Filter Activity

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