Retinal disorders
Gene: COL9A1
The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.Created: 6 Feb 2023, 8:10 a.m. | Last Modified: 6 Feb 2023, 8:10 a.m.
Panel Version: 3.27
PMID:16909383 and PMID:21421862 provides evidence of association of COL9A1 with Stickler syndrome, type IV (IMIM #614134) from three unrelated families. Patients from PMID:16909383 were reported with myopia with vitreoretinopathy and patients from PMID:21421862 had myopia, cataracts, distinct vitreous changes, progressive chorioretinal degeneration, and exudative and rhegmatogenous retinal detachments. Although these clinical manifestations are associated with retinal disorders, these manifestations overlap with Stickler syndrome. This gene is green on Stickler syndrome panel (https://panelapp.genomicsengland.co.uk/panels/3/gene/COL9A1/). 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, noon | Last Modified: 8 Jan 2023, noon
Panel Version: 3.8
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Stickler syndrome, type IV, OMIM:614134
Publications
Review submitted on behalf of Robert Henderson, Mr Chien Wong, Mr CK Patel. Publications: Van Camp, G., Snoeckx, R. L., Hilgert, N., van den Ende, J., Fukuoka, H., Wagatsuma, M., Suzuki, H., Smets, R. M. E., Vanhoenacker, F., Declau, F., Van De Heyning, P., Usami, S. A new autosomal recessive form of Stickler syndrome is caused by a mutation in the COL9A1 gene. Am. J. Hum. Genet. 79: 449-457, 2006.; Nikopoulos, K., Schrauwen, I., Simon, M., Collin, R. W. J., Veckeneer, M., Keymolen, K., Van Camp, G., Cremers, F. P. M., van den Born, L. I. Autosomal recessive Stickler syndrome in two families is caused by mutations in the COL9A1 gene. Invest. Ophthal. Vis. Sci. 52: 4774-4779, 2011Created: 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, sensorineural hearing loss
COL9A1 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 COL9A1 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
Tag to_be_confirmed_NHSE was removed from gene: COL9A1. Tag Q1_23_promote_green was removed from gene: COL9A1. Tag Q1_23_expert_review was removed from gene: COL9A1.
Gene: col9a1 has been classified as Green List (High Evidence).
Tag to_be_confirmed_NHSE tag was added to gene: COL9A1.
Tag Q1_23_promote_green tag was added to gene: COL9A1. Tag Q1_23_expert_review tag was added to gene: COL9A1.
Publications for gene: COL9A1 were set to
Phenotypes for gene: COL9A1 were changed from Eye Disorders to Stickler syndrome, type IV, OMIM:614134
Mode of inheritance for gene: COL9A1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Source NHS GMS was added to COL9A1.
COL9A1 was created by ellenmcdonagh
COL9A1 was added to Posterior segment abnormalitiespanel. Sources: Expert Review Red