Skeletal dysplasia
Gene: COL11A1

COL11A1 (collagen type XI alpha 1 chain)
EnsemblGeneIds (GRCh38): ENSG00000060718
EnsemblGeneIds (GRCh37): ENSG00000060718
OMIM: 120280, Gene2Phenotype
COL11A1 is in 16 panels

4 reviews

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high evidence)

In type 2 collagen gp of SD. 228520 is AR, other disorders are AD.; Review on behalf of Tracy Lester
Created: 6 Mar 2019, 11:44 a.m.

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Fibrochondrogenesis 1 228520; Marshall syndrome 154780; Stickler syndrome, type II 604841

Created: 6 Mar 2019, 11:44 a.m.

Panel version: 1.147

Eleanor Williams (Genomics England Curator)

I don't know

This gene was part of an initial gene list collated by Tracy Lester, Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, February 2019 on behalf of the GMS Musculoskeletal Specialist Group; Gene symbol submitted: COL11A1; Initial rating suggestion: Green
Created: 6 Mar 2019, 11:36 a.m.

Created: 6 Mar 2019, 11:36 a.m.

Panel version: 1.146

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

Listed as associated with Skeletal Dysplasia by Gene Advisor (June 2016), Steve Abbs
Created: 27 Jul 2016, 9:28 a.m.

Comment when marking as ready: Associated with phenotypes in G2P. Numerous variants reported in these phenotypes.
Created: 13 Jul 2016, 8:12 a.m.

Created: 27 Jul 2016, 9:28 a.m.

Panel version: 0.701

Ana Beleza (Bristol Regional Genetics Service)

Green List (high evidence)

Tier 1
Created: 17 Jun 2016, 8:02 a.m.

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Fibrochondrogenesis 1 228520; Marshall syndrome 154780; Stickler syndrome, type II 604841

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

Created: 17 Jun 2016, 8:02 a.m.

Panel version: 0.4

Details

Mode of Inheritance

BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Sources

NHS GMS
Expert Review Green
Emory Genetics Laboratory
Eligibility statement prior genetic testing
Radboud University Medical Center, Nijmegen

Phenotypes

Stickler syndrome, type II, OMIM:604841
Marshall syndrome, OMIM:154780
Fibrochondrogenesis 1, OMIM:228520

OMIM

120280

Clinvar variants

Variants in COL11A1

Penetrance

Complete

Panels with this gene

History Filter Activity

26 Oct 2021, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: COL11A1 were changed from Stickler syndrome, type II 604841; Marshall syndrome 154780; Fibrochondrogenesis 1 228520 to Stickler syndrome, type II, OMIM:604841; Marshall syndrome, OMIM:154780; Fibrochondrogenesis 1, OMIM:228520

6 May 2019, Gel status: 4

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Added phenotypes Stickler syndrome, type II 604841; Marshall syndrome 154780; Fibrochondrogenesis 1 228520 for gene: COL11A1

6 Mar 2019, Gel status: 3

Added New Source, Status Update

Eleanor Williams (Genomics England Curator)

Source NHS GMS was added to COL11A1. Rating Changed from Green List (high evidence) to Green List (high evidence)

9 Aug 2016, Gel status: 4