Clefting
Gene: COL11A2The 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
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
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.
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
Mode of inheritance for gene COL11A2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
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
Panel reviews were assessed, and panel was revised according to reviews and further curation 31st May 2017
COL11A2 was added to Cleftingpanel. Sources: Radboud University Medical Center, Nijmegen
Phenotypes for COL11A2 were set to Stickler syndrome, type III; STICKLER SYNDROME, NONOCULAR TYPE; OSMED; STL3; Non-ocular Stickler syndrome
Mode of inheritance for COL11A2 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
This gene has been classified as Green List (High Evidence).
Phenotypes for COL11A2 were set to Stickler syndrome, type III; STICKLER SYNDROME, NONOCULAR TYPE; OSMED; STL3
Phenotypes for COL11A2 were set to Stickler syndrome, type III; STICKLER SYNDROME, NONOCULAR TYPE; STL3
COL11A2 was added to Cleftingpanel. Sources: Eligibility statement prior genetic testing
Phenotypes for gene COL11A2 were set to Orofacial Clefting with skeletal features; Stickler Syndrome
COL11A2 was created by oniblock
COL11A2 was added to Cleftingpanel. Sources: UKGTN