Stickler syndrome
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, 3:35 p.m. | Last Modified: 3 Aug 2022, 3:35 p.m.
Panel Version: 2.27
The mode of inheritance of this gene has been updated following NHS Genomic Medicine Service approval.Created: 9 Mar 2022, 12:20 p.m. | Last Modified: 9 Mar 2022, 12:20 p.m.
Panel Version: 2.26
Comment on phenotypes: Previous phenotypes:
Stickler Syndrome, Dominant;Stickler syndrome, type III, 184840;Otospondylomegaepiphyseal dysplasia, 215150;Weissenbacher-Zweymuller syndrome, 277610;Deafness, autosomal dominant 13, 601868;Deafness, autosomal recessive 53, 609706;Fibrochondrogenesis 2, 614524Created: 3 Mar 2021, 4:22 p.m. | Last Modified: 3 Mar 2021, 4:22 p.m.
Panel Version: 2.7
Comment on mode of inheritance: Checked imprinting gene list.Created: 1 Feb 2016, 10:05 a.m.
Comment when marking as ready: OMIM identifies several patients with LOF mutationsCreated: 17 Dec 2015, 11:31 a.m.
Splice site mutations and missense substitutions of Glycines within the repeating Gly-Xaa-Yaa amino acid sequence of the collagen are pathogenicCreated: 16 Oct 2015, 10:26 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mode of pathogenicity
Other
Mode of inheritance for gene COL11A2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: COL11A2 were changed from Otospondylomegaepiphyseal dysplasia, autosomal dominant, OMIM:184840 to Otospondylomegaepiphyseal dysplasia, autosomal dominant, OMIM:184840; Otospondylomegaepiphyseal dysplasia, autosomal recessive, OMIM:215150
Phenotypes for gene: COL11A2 were changed from Stickler Syndrome, Dominant; Stickler syndrome, type III, 184840; Otospondylomegaepiphyseal dysplasia, 215150; Weissenbacher-Zweymuller syndrome, 277610; Deafness, autosomal dominant 13, 601868; Deafness, autosomal recessive 53, 609706; Fibrochondrogenesis 2, 614524 to Otospondylomegaepiphyseal dysplasia, autosomal dominant, OMIM:184840
Phenotypes for COL11A2 were set to Stickler Syndrome, Dominant; Stickler syndrome, type III, 184840; Otospondylomegaepiphyseal dysplasia, 215150; Weissenbacher-Zweymuller syndrome, 277610; Deafness, autosomal dominant 13, 601868; Deafness, autosomal recessive 53, 609706; Fibrochondrogenesis 2, 614524
Mode of inheritance for COL11A2 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
This gene has been classified as Green List (High Evidence).
COL11A2 was added to Stickler syndromepanel. Sources: Emory Genetics Laboratory
COL11A2 was added to Stickler syndromepanel. Sources: Radboud University Medical Center, Nijmegen
COL11A2 was added to Stickler syndromepanel. Sources: UKGTN
COL11A2 was added to Stickler syndromepanel. Sources: Illumina TruGenome Clinical Sequencing Services