Retinal disorders
Gene: COL11A1
The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.Created: 6 Feb 2023, 8:16 a.m. | Last Modified: 6 Feb 2023, 8:16 a.m.
Panel Version: 3.29
There is sufficient evidence linking COL11A1 with retinal disorders (retinal detachment and vitreoretinal degeneration/ type 2 vitreous phenotype) caused by autosomal dominant inheritance. This gene is associated with both Stickler syndrome and Marshall syndrome in OMIM and G2P. This gene is green on Stickler syndrome panel (https://panelapp.genomicsengland.co.uk/panels/3/gene/COL11A1/).
It has previously been decided (2019) in consultation with Gavin Arno (UCL Institute of Ophthalmology/Moorfields Eye Hospital) that this gene can stay red in this panel. Given this gene has recently been proposed for this panel by an expert, I am recommending that the Test Evaluation Working Group review and define the panel scope, and reach consensus as to whether this gene is appropriate for inclusion.Created: 8 Jan 2023, 6:47 p.m. | Last Modified: 8 Jan 2023, 6:47 p.m.
Panel Version: 3.13
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Marshall syndrome, OMIM:154780; Stickler syndrome, type II, OMIM:604841
Publications
Review submitted on behalf of Robert Henderson, Mr Chien Wong, Mr CK Patel. Publications: Ang, A., Ung, T., Puvanachandra, N., Wilson, L., Howard, F., Ryalls, M., Richards, A., Meredith, S., Laidlaw, M., Poulson, A., Scott, J., Snead, M. Vitreous phenotype: a key diagnostic sign in Stickler syndrome types 1 and 2 complicated by double heterozygosity. Am. J. Med. Genet. 143A: 604-607, 2007; Annunen, S., Korkko, J., Czarny, M., Warman, M. L., Brunner, H. G., Kaariainen, H., Mulliken, J. B., Tranebjaerg, L., Brooks, D. G., Cox, G. F., Cruysberg, J. R., Curtis, M. A., and 13 others. Splicing mutations of 54-bp exons in the COL11A1 gene cause Marshall syndrome, but other mutations cause overlapping Marshall/Stickler phenotypes. Am. J. Hum. Genet. 65: 974-983, 1999Created: 21 Dec 2022, 4:51 p.m. | Last Modified: 21 Dec 2022, 4:51 p.m.
Panel Version: 3.6
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Stickler syndrome, Marshall syndrome,, beaded vitreous, early onset hearing loss, retinal detachment
COL11A1 is a green gene on the Stickler syndrome panel (code 3, version 2.0). After discussion with Gavin Arno (UCL Institute of Ophthalmology/Moorfields Eye Hospital) it was decided that it is all right to leave COL11A1 off this panel (Retinal disorders)Created: 30 Aug 2019, 2:52 p.m. | Last Modified: 30 Aug 2019, 2:52 p.m.
Panel Version: 1.160
overlapping phenotype - SticklerCreated: 30 Aug 2019, 2:12 p.m. | Last Modified: 30 Aug 2019, 2:12 p.m.
Panel Version: 1.159
Gene: col11a1 has been classified as Green List (High Evidence).
Tag to_be_confirmed_NHSE was removed from gene: COL11A1. Tag Q1_23_promote_green was removed from gene: COL11A1. Tag Q1_23_expert_review was removed from gene: COL11A1.
Tag to_be_confirmed_NHSE tag was added to gene: COL11A1.
Tag Q1_23_promote_green tag was added to gene: COL11A1. Tag Q1_23_expert_review tag was added to gene: COL11A1.
Phenotypes for gene: COL11A1 were changed from Stickler syndrome, type II, OMIM:604841 to Stickler syndrome, type II, OMIM:604841; Marshall syndrome, OMIM:154780
Publications for gene: COL11A1 were set to
Mode of inheritance for gene: COL11A1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: COL11A1 were changed from Eye Disorders to Stickler syndrome, type II, OMIM:604841
Source NHS GMS was added to COL11A1.
COL11A1 was added to Posterior segment abnormalitiespanel. Sources: Expert Review Red
COL11A1 was created by ellenmcdonagh