Retinal disorders

Gene: COL9A2

Green List (high evidence)

The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.

Created: 6 Feb 2023, 8:12 a.m. | Last Modified: 6 Feb 2023, 8:12 a.m.

Panel Version: 3.27

Patients from four unrelated families were identified with autosomal recessive variants in COL9A2 gene and were associated with Stickler syndrome. Affected family members from PMID:21671392 had high myopia, vitreoretinal degeneration and retinal detachment, while both brothers from PMID:33356723 demonstrated reduced visual acuity, vitreous changes and myopia with the proband being operated for retinal detachment and cataract in one eye. Two patients from a family reported in PMID:31090205 had retinal disorders.

The retinal phenotypes overlap with Stickler syndrome and the gene is green on Stickler syndrome panel ((https://panelapp.genomicsengland.co.uk/panels/3/gene/COL9A2/)

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, 12:27 p.m. | Last Modified: 8 Jan 2023, 12:27 p.m.

Panel Version: 3.9

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Stickler syndrome, type V, OMIM:614284

Publications

• 21671392
• 31090205
• 33356723

Review submitted on behalf of Robert Henderson, Mr Chien Wong, Mr CK Patel. Publications: Baker, S., Booth, C., Fillman, C., Shapiro, M., Blair, M. P., Hyland, J. C., Ala-Kokko, L.A loss of function mutation in theCOL9A2gene cause autosomal recessive Stickler syndrome.Am. J. Med. Genet. 155A: 1668-1672, 2011.; Kjellstrm U, Martell S, Brobeck C, Andrasson S. Autosomal recessive Stickler syndrome associated with homozygous mutations in the COL9A2 gene. Ophthalmic Genet. 2021 Apr;42(2):161-169. doi: 10.1080/13816810.2020.1861309.

Created: 21 Dec 2022, 4:51 p.m. | Last Modified: 21 Dec 2022, 4:51 p.m.

Panel Version: 3.6

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Stickler Syndrome, high myopia, retinal detachment,

Red List (low evidence)

COL9A2 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 COL9A2 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

Green List (high evidence)

overlapping phenotype - Stickler

Created: 30 Aug 2019, 2:12 p.m. | Last Modified: 30 Aug 2019, 2:12 p.m.

Panel Version: 1.159