Stickler syndrome

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 18 panels

3 reviews

Ivone Leong (Genomics England Curator)

Comment on phenotypes: Previous phenotypes:
Stickler syndrome, type II, 604841;Retinitis pigmentosa 45, 613767;Achromatopsia-3, 262300{Autism susceptibility 15}, 612100;Marshall syndrome, 154780;{Lumbar disc herniation, susceptibility to}, 603932;Fibrochondrogenesis, 228520
Created: 3 Mar 2021, 4:18 p.m. | Last Modified: 3 Mar 2021, 4:18 p.m.
Panel Version: 2.4

Caroline Wright (Genomics England Curator)

Comment when marking as ready: DDG2P: monoallelic, dominant negative
Created: 17 Dec 2015, 12:59 p.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, 10:29 a.m.
There are rare biallelic recessive forms of Stickler syndrome type II and Marshall syndrome
Created: 16 Oct 2015, 8:23 a.m.

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Stickler type II; Marshall Syndrome; Fibrochondrogenesis

Publications

Mode of pathogenicity
Other

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Eligibility statement prior genetic testing
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Stickler syndrome, type II, OMIM:604841
  • Marshall syndrome, OMIM:154780
OMIM
120280
Clinvar variants
Variants in COL11A1
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

3 Mar 2021, Gel status: 3

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: COL11A1 were changed from Stickler syndrome, type II, OMIM:604841 to Stickler syndrome, type II, OMIM:604841; Marshall syndrome, OMIM:154780

3 Mar 2021, Gel status: 3

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: COL11A1 were changed from Stickler syndrome, type II, 604841 to Stickler syndrome, type II, OMIM:604841

3 Mar 2021, Gel status: 3

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: COL11A1 were changed from Stickler syndrome, type II, 604841; Retinitis pigmentosa 45, 613767; Achromatopsia-3, 262300{Autism susceptibility 15}, 612100; Marshall syndrome, 154780; {Lumbar disc herniation, susceptibility to}, 603932; Fibrochondrogenesis, 228520 to Stickler syndrome, type II, 604841

1 Feb 2016, Gel status: 4

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for COL11A1 were set to Stickler syndrome, type II, 604841; Retinitis pigmentosa 45, 613767; Achromatopsia-3, 262300{Autism susceptibility 15}, 612100; Marshall syndrome, 154780; {Lumbar disc herniation, susceptibility to}, 603932; Fibrochondrogenesis, 228520

1 Feb 2016, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for COL11A1 was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

17 Dec 2015, Gel status: 4

Set publications

Caroline Wright (Genomics England Curator)

Publications for COL11A1 were set to 10573014; 23922384;20513134;8872475

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).

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).

17 Dec 2015, Gel status: 2

Set publications

Caroline Wright (Genomics England Curator)

Publications for COL11A1 were set to 10573014

12 Aug 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

COL11A1 was added to Stickler syndromepanel. Sources: Eligibility statement prior genetic testing

6 May 2015, Gel status: 2

Added New Source

Eik Haraldsdottir (Genomics England)

COL11A1 was added to Stickler syndromepanel. Sources: Emory Genetics Laboratory

6 May 2015, Gel status: 1

Added New Source

Eik Haraldsdottir (Genomics England)

COL11A1 was added to Stickler syndromepanel. Sources: Radboud University Medical Center, Nijmegen