Ehlers Danlos syndrome with a likely monogenic cause
Gene: COL11A1
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: COL11A1; Suggested initial gene rating: redCreated: 3 Apr 2019, 3:41 p.m.
d/w Dr D Johnson (Sheffield Clinical genetics). Not enough overlap with EDS.Created: 24 Jan 2019, 12:34 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Marshal syndrome; Stickler syndrome, type II 604841
Review from Arianna Tucci : On panel as can present with joint laxityCreated: 9 May 2017, 3:24 p.m.
Comment on mode of inheritance: There are rare biallelic recessive forms of Stickler syndrome type II and Marshall syndromeCreated: 9 May 2017, 3:04 p.m.
Tag curated_removed tag was added to gene: COL11A1.
Gene: col11a1 has been removed from the panel.
Source NHS GMS was added to COL11A1. 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 COL11A1 were set to 10573014; 23922384; 20513134; 8872475;20301479
COL11A1 was added to Ehlers-Danlos syndromespanel. Sources: UKGTN
Phenotypes for COL11A1 were set to Stickler syndrome, type II, 604841; Connective Tissue Disorders; Marshall syndrome, 154780; Fibrochondrogenesis, 228520
Phenotypes for COL11A1 were set to Stickler syndrome, type II, (AD), 604841; Connective Tissue Disorders; Marshall syndrome, (AD), 154780; Fibrochondrogenesis, (AR), 228520
This gene has been classified as Green List (High Evidence).
Publications for COL11A1 were set to 10573014; 23922384; 20513134; 8872475
Publications for COL11A1 were set to 10573014; 23922384; 20513134; 8872475;
Phenotypes for COL11A1 were set to Stickler syndrome, type II, (AD), 604841; Connective Tissue Disorders; Marshall syndrome, (AD), 154780; Fibrochondrogenesis (AR), 228520
COL11A1 was added to Ehlers-Danlos syndromespanel. Sources: Radboud University Medical Center, Nijmegen
Mode of inheritance for COL11A1 was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mode of inheritance for COL11A1 was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for COL11A1 were set to Stickler syndrome, type II (AD), 604841; Connective Tissue Disorders; Marshall syndrome, (AD), 154780; Fibrochondrogenesis (AR), 228520
Phenotypes for COL11A1 were set to Stickler syndrome, type II, 604841; Connective Tissue Disorders
Mode of inheritance for COL11A1 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for COL11A1 were set to Stickler syndrome, type II; Connective Tissue Disorders
COL11A1 was created by ellenmcdonagh
COL11A1 was added to Ehlers-Danlos syndromespanel. Sources: Expert list,Emory Genetics Laboratory