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Joubert Syndrome, as genome-wide studies have reported it: 388 positions from 1 study. Every figure comes from the studies themselves, gathered by code from the GWAS Catalog and updated as the records grow.
Joubert Syndrome — filed in the GWAS Catalog as "Joubert 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: 388 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. The 388 positions on this page from it: rs1006433886 (RPGRIP1L), rs1014876003 (TMEM67), rs1027674181 (CC2D2A), rs1036618109 (MKS1), rs1037406858 (RPGRIP1L), rs1038920023 (TMEM67), rs1057520162 (RPGRIP1L), rs1114167302 (MKS1), and 380 more.
The 388 positions lie in or near 20 genes: RPGRIP1L, TMEM67, CC2D2A, MKS1, AHI1, CEP290, INPP5E, TCTN2, TMEM216, TCTN1, OFD1, TMEM218, B9D1, TOGARAM1, CPLANE1, KIAA0753, B9D2, RCOR1, IFT38, KATNIP. A gene named here is the catalogue's mapped location for a position, not a mechanism; the studies are cited above so that a reader can go to them.
Association records say which positions differ, on average, between people with Joubert 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.
Joubert Syndrome is diagnosed by a clinician — not from a genotype. None of the 388 variants on this page is used by any guideline to predict, screen for or diagnose it.
Its sources are association records, and association records carry no clinical guidance, so neither does this page. What a genome-wide study reports is a difference between groups of people, not a finding about any one person. Symptoms, tests and treatment are questions for a clinician.
Databases, guidelines and references
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Joubert Syndrome. MyGeneLog™. https://www.mygenelog.com/conditions/joubert-syndrome
In the GWAS Catalog, Joubert Syndrome is filed as "Joubert syndrome". Rather than define it, this page lists the genome-wide findings: 388 positions from 1 study, each with its study's sample and citation.
Genome-wide studies have reported 388 associated positions. Each common variant has a small effect, and an association in a population is not a cause in any one person.
The positions lie in or near 20 genes: RPGRIP1L, TMEM67, CC2D2A, MKS1, AHI1, CEP290, INPP5E, TCTN2, TMEM216, TCTN1, OFD1, TMEM218, B9D1, TOGARAM1, CPLANE1, KIAA0753, B9D2, RCOR1, IFT38, KATNIP. A mapped gene is the catalogue's location for a position, not a mechanism.
No. They are population-level findings of small effect. Joubert Syndrome is diagnosed by a clinician, and no guideline uses a genotype to predict it.
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