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Gorlin Syndrome, as genome-wide studies have reported it: 200 positions from 1 study. Every figure comes from the studies themselves, gathered by code from the GWAS Catalog and updated as the records grow.
Gorlin Syndrome — filed in the GWAS Catalog as "Gorlin syndrome" — is a condition this catalogue follows as its positions arrive. This page is assembled by MyGeneLog's own code from the catalogue's records and the studies' own listings: 200 positions from 1 study, and no sentence written by hand. It is rebuilt as new positions are reported, so what it says is what the records say today.
A study. It contributes 200 positions: rs1057518400 (PTCH1), rs1057520590 (PTCH1), rs1060501105 (SUFU), rs1060502271 (PTCH1), rs1060502274 (PTCH1), rs1060502277 (PTCH1), rs1060502278 (PTCH1), rs1060502281 (PTCH1), and 192 more.
The catalogue maps the 200 positions to 2 genes: PTCH1, SUFU. 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.
Association records say which positions differ, on average, between people with Gorlin 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 Gorlin Syndrome; a clinician does. No guideline uses the 200 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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Gorlin Syndrome. MyGeneLog™. https://www.mygenelog.com/conditions/gorlin-syndrome
Gorlin Syndrome is the condition the GWAS Catalog files under "Gorlin syndrome". This page does not define it in its own words; it lists what genome-wide studies have reported: 200 positions from 1 study, with each study's sample and citation.
Genome-wide studies have reported 200 associated positions. Each common variant has a small effect, and an association in a population is not a cause in any one person.
The catalogue maps the positions to 2 genes: PTCH1, SUFU. These are where the positions sit, not proof of how they act.
No. They are population-level findings of small effect. Gorlin Syndrome is diagnosed by a clinician, and no guideline uses a genotype to predict it.
Free to reuse, non-commercially. This page's text is original writing from freely-available research, licensed CC BY-NC 4.0 — share and adapt it with attribution to MyGeneLog™; commercial use is licensed. It's general research-derived information, not medical advice or a diagnosis — see Terms of Use.