Genes in panel
STRs in panel
Prev Next

Skeletal dysplasia

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

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

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.

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.

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

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 604841
  • Marshall syndrome 154780
  • Fibrochondrogenesis 1 228520
OMIM
120280
Clinvar variants
Variants in COL11A1
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 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

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 COL11A1 were set to Fibrochondrogenesis 1 228520; Marshall syndrome 154780; Stickler syndrome, type II 604841

18 May 2016, Gel status: 4

Added New Source

Sarah Leigh (Genomics England Curator)

COL11A1 was added to Unexplained skeletal dysplasiapanel. Source: Expert Review Red

18 May 2016, Gel status: 4

Set Mode of Inheritance, Added New Source

Sarah Leigh (Genomics England Curator)

COL11A1 was added to Unexplained skeletal dysplasiapanel. Source: Radboud University Medical Center, Nijmegen COL11A1 was added to Unexplained skeletal dysplasiapanel. Source: Emory Genetics Laboratory COL11A1 was added to Unexplained skeletal dysplasiapanel. Source: Eligibility statement prior genetic testing COL11A1 was added to Unexplained skeletal dysplasiapanel. Source: Expert Review Green Model of inheritance for gene COL11A1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

18 May 2016, Gel status: 0

Created

Sarah Leigh (Genomics England Curator)

COL11A1 was created by sleigh

18 May 2016, Gel status: 0

Added New Source

Sarah Leigh (Genomics England Curator)

COL11A1 was added to Unexplained skeletal dysplasiapanel. Sources: