Clefting
Gene: COL11A1The 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 list classification: Promoted from red to green due to expert review green, and more than 3 families reported for Stickler syndrome.Created: 16 Dec 2016, 3 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Stckler syndrome
Variants in this GENE are reported as part of current diagnostic practice
Mode of inheritance for gene COL11A1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: COL11A1 were changed from Orofacial Clefting with skeletal features; Stickler Syndrome; Cleft palate to Marshall Syndrome, OMIM:154780; Stickler syndrome, type II, OMIM:604841
Victorian Clinical Genetics Services was added to COL11A1. Panel: Clefting Phenotypes for gene COL11A1 were set to Orofacial Clefting with skeletal features, Stickler Syndrome, Cleft palate
Panel reviews were assessed, and panel was revised according to reviews and further curation 31st May 2017
This gene has been classified as Green List (High Evidence).
Mode of inheritance for COL11A1 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
This gene has been classified as Green List (High Evidence).
Phenotypes for COL11A1 were set to Orofacial Clefting with skeletal features; Stickler Syndrome
COL11A1 was added to Cleftingpanel. Sources: Eligibility statement prior genetic testing
Phenotypes for gene COL11A1 were set to Orofacial Clefting with skeletal features; Stickler Syndrome
COL11A1 was created by oniblock
COL11A1 was added to Cleftingpanel. Sources: UKGTN