Clefting
Gene: COL11A2

COL11A2 (collagen type XI alpha 2 chain)
EnsemblGeneIds (GRCh38): ENSG00000204248
EnsemblGeneIds (GRCh37): ENSG00000204248
OMIM: 120290, Gene2Phenotype
COL11A2 is in 15 panels

4 reviews

Arina Puzriakova (Genomics England Curator)

The recent MOI update on this panel was done following an audit of genes with different MOIs on component panels of the same superpanel. These were reviewed by the curation team accounting for respective panel scope and final MOIs were validated by the Genomics England clinical team.
Created: 3 Aug 2022, 3:21 p.m. | Last Modified: 3 Aug 2022, 3:21 p.m.

Panel Version: 2.69

Created: 3 Aug 2022, 3:21 p.m.
Last Modified: 3 Aug 2022, 3:21 p.m.
Panel version: 2.69

Eleanor Williams (Genomics England Curator)

The mode of inheritance of this gene has been updated following NHS Genomic Medicine Service approval.
Created: 5 Mar 2022, 5:14 p.m. | Last Modified: 5 Mar 2022, 5:14 p.m.

Panel Version: 2.65

Created: 5 Mar 2022, 5:14 p.m.
Last Modified: 5 Mar 2022, 5:14 p.m.
Panel version: 2.65

Louise Daugherty (Genomics England Curator)

Comment on phenotypes: updated disorder names.
Created: 24 Jan 2017, 2:46 p.m.

Comment on list classification: Promoted gene status from Red to Green due to expert review and evidence found in more than three individuals.
Created: 19 Dec 2016, 4:53 p.m.

Created: 19 Dec 2016, 4:49 p.m.

Panel version: 0.57

Usha Kini (Oxford Centre for Genomic Medicine)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Non-ocular Stickler syndrome or OSMED

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

Created: 8 Dec 2016, 10:24 a.m.

Panel version: 0.33

Details

Mode of Inheritance

BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Sources

Victorian Clinical Genetics Services
Radboud University Medical Center, Nijmegen
Expert Review Green
Eligibility statement prior genetic testing
UKGTN

Phenotypes

Stickler syndrome, type III
STICKLER SYNDROME, NONOCULAR TYPE
OSMED
STL3
Non-ocular Stickler syndrome
Cleft palate

OMIM

120290

Clinvar variants

Variants in COL11A2

Penetrance

Complete

Panels with this gene

History Filter Activity

5 Mar 2022, Gel status: 3

Set mode of inheritance

Eleanor Williams (Genomics England Curator)

Mode of inheritance for gene COL11A2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

13 Aug 2018, Gel status: 4

Added New Source, Set penetrance

Ellen McDonagh (Genomics England Curator)

Victorian Clinical Genetics Services was added to COL11A2. Panel: Clefting Phenotypes for gene COL11A2 were set to Stickler syndrome, type III, STICKLER SYNDROME, NONOCULAR TYPE, OSMED, STL3, Non-ocular Stickler syndrome, Cleft palate

31 May 2017, Gel status: 4