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Usher Syndrome Type 2, as genome-wide studies have reported it: 29 positions from 1 study. Built from the GWAS Catalog's records and rebuilt when a new position is reported; the figures are the studies'.
Genome-wide studies have so far placed 29 positions on Usher Syndrome Type 2, from 1 study; the GWAS Catalog files the condition as "Usher syndrome type 2". MyGeneLog's code assembles this page from those records and rebuilds it when a new position is reported — nothing here was written by hand, and nothing here goes beyond what the records say.
A study. From it, 29 positions on this page: rs1064797136 (USH2A), rs1064797138 (USH2A), rs1364987785 (USH2A), rs1438734382 (USH2A), rs1571762632 (USH2A), rs1571941511 (USH2A), rs1571945476 (USH2A), rs1580905929 (ADGRV1), and 21 more.
The catalogue maps the 29 positions to 5 genes: USH2A, ADGRV1, CDH23, USH1C, MYO7A. That mapping says where a position sits, in a gene or beside one — not what it does. For what each study measured, follow its citation above.
It is a record of what genome-wide studies have reported about Usher Syndrome Type 2, kept current by code. It is not a description of the condition, an estimate of how common it is, or guidance of any kind — a page that took those from association records would be inventing them. Each variant page linked here carries that study's own record for the position in fixed sentences, and ClinVar's record where one exists.
A genotype does not diagnose Usher Syndrome Type 2; a clinician does. No guideline uses the 29 variants on this page to predict it, screen for it or confirm it.
This page was assembled by code from association records. It holds no clinical guidance, because its sources hold none: a genome-wide study reports which positions differ between people with a condition and people without, at the population level, and that is all this page repeats. A question about a symptom, a test or a treatment belongs with a clinician.
Databases, guidelines and references
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Usher Syndrome Type 2. MyGeneLog™. https://www.mygenelog.com/conditions/usher-syndrome-type-2
Usher Syndrome Type 2 is the condition the GWAS Catalog files under "Usher syndrome type 2". This page does not define it in its own words; it lists what genome-wide studies have reported: 29 positions from 1 study, with each study's sample and citation.
Genes play a part: 29 positions have been linked to it. But each is a common variant of small effect, and a link found across a population does not cause the condition in any one person.
The positions lie in or near 5 genes: USH2A, ADGRV1, CDH23, USH1C, MYO7A. A mapped gene is the catalogue's location for a position, not a mechanism.
No. They are population-level findings of small effect. Usher Syndrome Type 2 is diagnosed by a clinician, and no guideline uses a genotype to predict it.
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