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Usher Syndrome, as genome-wide studies have reported it: 78 positions from 1 study. Every figure comes from the studies themselves, gathered by code from the GWAS Catalog and updated as the records grow.
1 study in the GWAS Catalog report 78 positions for Usher Syndrome, which the catalogue files as "Usher syndrome". MyGeneLog follows the condition as positions arrive: code builds this page from the records, adds each new position when it is reported, and writes no sentence of its own beyond them.
A study. The 78 positions on this page from it: rs1022105558 (PCDH15), rs111033195 (MYO7A), rs111033280 (USH2A), rs111033486 (MYO7A), rs111033518 (USH2A), rs1167540054 (USH2A), rs1226851798 (USH1G), rs1266443165 (MYO7A), and 70 more.
The 78 positions sit in or beside 8 genes: PCDH15, MYO7A, USH2A, USH1G, ADGRV1, CDH23, CLRN1, CIB2. These are locations, as the catalogue records them; whether any of these genes is how a position acts is a question the records leave open.
Association records say which positions differ, on average, between people with Usher Syndrome and people without. They do not describe the condition, say how common it is, or tell anyone what to do, so this page does not either. For a single position, open its variant page: it gives that study's record in fixed sentences, with ClinVar's where there is one.
A genotype does not diagnose Usher Syndrome; a clinician does. No guideline uses the 78 variants on this page to predict it, screen for it or confirm it.
Everything here comes from population-level association records, put together by code. Those records compare groups of people; they do not examine anyone, and they give no guidance on care. For symptoms, testing or treatment, ask a clinician.
Databases, guidelines and references
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Usher Syndrome. MyGeneLog™. https://www.mygenelog.com/conditions/usher-syndrome
Usher Syndrome is the condition the GWAS Catalog files under "Usher syndrome". This page does not define it in its own words; it lists what genome-wide studies have reported: 78 positions from 1 study, with each study's sample and citation.
Genes play a part: 78 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 8 genes: PCDH15, MYO7A, USH2A, USH1G, ADGRV1, CDH23, CLRN1, CIB2. 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 is diagnosed by a clinician, and no guideline uses a genotype to predict it.
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