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Skeletal dysplasia

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

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high evidence)

In type 2 collagen gp of SD. Only 2 cases reported with variants in Fibrochondrogenesis 2 614524 - one AR, one AD. Amber for this phenotype. Green for other recessive phenotypes.; Review on behalf of Tracy Lester
Created: 6 Mar 2019, 11:44 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Fibrochondrogenesis 2 614524?; Otospondylomegaepiphyseal dysplasia 215150; Stickler syndrome, type III 184840

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: COL11A2; Initial rating suggestion: Green
Created: 6 Mar 2019, 11:36 a.m.

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, 8:13 a.m.

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 2 614524; Otospondylomegaepiphyseal dysplasia 215150; Stickler syndrome, type III 184840; Weissenbacher-Zweymuller syndrome 277610

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

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • UKGTN
Phenotypes
  • Stickler syndrome, type III 184840
  • Otospondylomegaepiphyseal dysplasia 215150
  • Fibrochondrogenesis 2 614524?
  • Fibrochondrogenesis 2 614524
  • Weissenbacher-Zweymuller syndrome 277610
OMIM
120290
Clinvar variants
Variants in COL11A2
Penetrance
Complete
Panels with this gene

History Filter Activity

6 May 2019, Gel status: 4

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Added phenotypes Stickler syndrome, type III 184840; Otospondylomegaepiphyseal dysplasia 215150; Fibrochondrogenesis 2 614524? for gene: COL11A2

6 Mar 2019, Gel status: 3

Added New Source, Status Update

Eleanor Williams (Genomics England Curator)

Source NHS GMS was added to COL11A2. Rating Changed from Green List (high evidence) to Green List (high evidence)

9 Aug 2016, Gel status: 4

panel promoted to version 1

Sarah Leigh (Genomics England Curator)

Promoted to version 1 9th August 2016

13 Jul 2016, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

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

13 Jul 2016, Gel status: 4

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for COL11A2 were set to Fibrochondrogenesis 2 614524; Otospondylomegaepiphyseal dysplasia 215150; Stickler syndrome, type III 184840; Weissenbacher-Zweymuller syndrome 277610

18 May 2016, Gel status: 4

Set Mode of Inheritance, Added New Source

Sarah Leigh (Genomics England Curator)

COL11A2 was added to Unexplained skeletal dysplasiapanel. Source: Expert Review Red Model of inheritance for gene COL11A2 was set to BIALLELIC, autosomal or pseudoautosomal

18 May 2016, Gel status: 4

Set Mode of Inheritance, Added New Source

Sarah Leigh (Genomics England Curator)

COL11A2 was added to Unexplained skeletal dysplasiapanel. Source: Illumina TruGenome Clinical Sequencing Services COL11A2 was added to Unexplained skeletal dysplasiapanel. Source: UKGTN COL11A2 was added to Unexplained skeletal dysplasiapanel. Source: Radboud University Medical Center, Nijmegen COL11A2 was added to Unexplained skeletal dysplasiapanel. Source: Emory Genetics Laboratory COL11A2 was added to Unexplained skeletal dysplasiapanel. Source: Expert Review Green Model of inheritance for gene COL11A2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

18 May 2016, Gel status: 0

Added New Source

Sarah Leigh (Genomics England Curator)

COL11A2 was added to Unexplained skeletal dysplasiapanel. Sources:

18 May 2016, Gel status: 0

Created

Sarah Leigh (Genomics England Curator)

COL11A2 was created by sleigh