SNRNP200 gene was first reported in relation to SNRNP200-related dominant retinopathy, in a patient described with retinitis pigmentosa (adRP) in 2009 (PMID:19878916). Retinitis pigmentosa is characterized by nyctalopia (HP:0000662), reduced visual acuity (HP:0007663), rod-cone dystrophy (HP:0000510), attenuation of retinal blood vessels (HP:0007843), pigmentary retinopathy (HP:0000580), macular degeneration (HP:0000608), optic disc pallor (HP:0000543), abnormal (diminished) electroretinogram (HP:0000512), and bone spicule pigmentation of the retina (HP:0007737). To capture the overlapping spectrum of clinical presentations, this gene is curated under the disease entity "inherited retinal dystrophy". Though total score to reach a definitive classification was achieved by the addition of 27 variants (PMID: 23029027, 26720483, 21618346, 33553197, 33090715, 33598457, 19710410, 33576794, 30543658, 31486839, 26355662, 24516651, 24319334, 25356976, 32037395, 27208204) in this curation, however there is more evidence available in the literature. There are 17 SNRNP200 pathogenic and likely pathogenic variants listed on ClinVar (03/02/2022). SNRNP200 RNA was found to be highly expressed in cornea, iris, lens, vitreous body, sclera, retina, and optic nerve of the human cadaver eyes (PMID 33553197) while whole mount in situ hybridization in zebra fish revealed a generalized expression of SNRNP200 at two-cell stage, 50%-epiboly, 8-somite stage, 1pdf, and 2pdf. Furthermore, retinal cryosections showed high expression at the ciliary marginal zone at 3dpf and 5dpf (PMID 33553197). Overexpression of mutant SNRNP200 in knockout zebrafish caused generalized body and retinal defects through dominant negative effect, although in humans with SNRNP200 mutations, no systemic defects have been observed so far (PMID 33553197). In summary, SNRNP200 is definitively associated with SNRNP200-related dominant retinopathy. This has been repeatedly demonstrated in both research and clinical diagnostic settings and has been upheld over time.
The GenCC data are available free of restriction under a CC0 1.0 Universal (CC0 1.0) Public Domain Dedication. The GenCC requests that you give attribution to GenCC and the contributing sources whenever possible and appropriate. The accepted Flagship manuscript is now available from Genetics in Medicine (https://www.gimjournal.org/article/S1098-3600(22)00746-8/fulltext).
The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. The GenCC does not independently verify the submitted information. Though the information is obtained from sources believed to be reliable, no warranty, expressed or implied, is made regarding accuracy, adequacy, completeness, reliability or usefulness of any information. This disclaimer applies to both isolated and aggregate uses of the information. The information is provided on an "as is" basis, collected through periodic submission and therefore may not represent the most up-to-date information from the submitters. If you have questions about the medical relevance of information contained on this website, please see a healthcare professional; if you have questions about specific gene-disease claims, please contact the relevant sources; and if you have questions about the representation of the data on this website, please contact gencc@thegencc.org.