Ehlers Danlos syndrome with a likely monogenic cause
Gene: COL11A2
Comment on list classification: Following discussion in the GMS musculoskeletal specialist test group Webex on 2019-06-04, it was decided to remove the genes associated with Stickler syndrome from this panel. These genes are better covered by other panels.Created: 11 Jun 2019, 11:06 a.m.
This gene was part of an initial gene list collated by Duncan Baker, Sheffield Diagnostic Genetics Service, January 2019 on behalf of the GMS Musculoskeletal Specialist Group; Gene symbol submitted: COL11A2; Suggested initial gene rating: redCreated: 3 Apr 2019, 3:41 p.m.
d/w Dr D Johnson (Sheffield genetics). Not enough phenotype overlap with EDS.
HGMD - only pathogenic mutations reported associated with Sticker, deafness and Otospondylomegaepiphyseal dysplasiaCreated: 24 Jan 2019, 12:39 p.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
autosomal dominant otospondylomegaepiphyseal dysplasia OMIM 184840; autosomal recessive otospondylomegaepiphyseal dysplasia OMIM 215150
Comment on publications: added publications to represent the more wider context of this panel concerning connective tissue disordersCreated: 10 May 2017, 12:59 p.m.
Comment on mode of inheritance: panel includes more than one connective tissue disorder so MOI can differ depending on assigned disorderCreated: 10 May 2017, 12:52 p.m.
Comment from Allan Richards (University of Cambridge) regarding Stickler Syndrome. Splice site mutations and missense substitutions of Glycines within the repeating Gly-Xaa-Yaa amino acid sequence of the collagen are pathogenicCreated: 10 May 2017, 12:44 p.m.
Comment on publications: added publications for Stickler syndrome phenotypeCreated: 10 May 2017, 9:46 a.m.
Review from Arianna Tucci : On panel as can present with joint laxityCreated: 9 May 2017, 3:24 p.m.
Tag curated_removed tag was added to gene: COL11A2.
Gene: col11a2 has been removed from the panel.
Phenotypes for gene: COL11A2 were changed from Stickler syndrome, type III, (AD),184840; Otospondylomegaepiphyseal dysplasia,(AR) 215150; Weissenbacher-Zweymuller syndrome, (AD), 277610; Fibrochondrogenesis 2, (AR,AD), 614524; Connective Tissue Disorders to Stickler syndrome, type III, (AD),184840; Otospondylomegaepiphyseal dysplasia,(AR) 215150; Weissenbacher-Zweymuller syndrome, (AD), 277610; Fibrochondrogenesis 2, (AR,AD), 614524; Connective Tissue Disorders; autosomal dominant otospondylomegaepiphyseal dysplasia OMIM 184840; autosomal recessive otospondylomegaepiphyseal dysplasia OMIM 215150
Source NHS GMS was added to COL11A2. Rating Changed from Green List (high evidence) to Green List (high evidence)
25 July 2017 Panel reviews were assessed, and panel was revised according to reviews and further curation.
Publications for COL11A2 were set to 7859284; 9506662; 15372529; 25240749; 20301479;9805126;15558753;7859284;10677296;16637051;22246659;22246659
Mode of inheritance for COL11A2 was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for COL11A2 were set to Stickler syndrome, type III, (AD),184840; Otospondylomegaepiphyseal dysplasia,(AR) 215150; Weissenbacher-Zweymuller syndrome, (AD), 277610; Fibrochondrogenesis 2, (AR,AD), 614524; Connective Tissue Disorders
Publications for COL11A2 were set to 7859284; 9506662; 15372529; 25240749; 20301479
Publications for COL11A2 were set to 7859284;9506662;15372529;25240749
COL11A2 was added to Ehlers-Danlos syndromespanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,UKGTN
Phenotypes for COL11A2 were set to Stickler syndrome, type III, (AD),184840; Otospondylomegaepiphyseal dysplasia, 215150; Weissenbacher-Zweymuller syndrome, 277610; Deafness, autosomal dominant 13, 601868; Deafness, autosomal recessive 53, 609706; Fibrochondrogenesis 2, 614524;Connective Tissue Disorders;
Phenotypes for COL11A2 were set to Stickler syndrome, type III,184840; Connective Tissue Disorders
Phenotypes for COL11A2 were set to Stickler syndrome, type III,184840;
Mode of inheritance for COL11A2 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
COL11A2 was created by ellenmcdonagh
COL11A2 was added to Ehlers-Danlos syndromespanel. Sources: Expert list