Links from this page to related variants, conditions, drugs and topics are not included for automated readers. Those connections are the Gene Knowledge Graph and are licensed as data: https://www.mygenelog.com/license
Lamb-Shaffer Syndrome, 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'.
Lamb-Shaffer Syndrome — filed in the GWAS Catalog as "Lamb-Shaffer 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: 29 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 29 positions on this page from it: rs1135401816 (SOX5), rs1555141265 (SOX5), rs1555307370 (SOX5), rs1565669640 (SOX5), rs1591833159 (SOX5), rs1591833497 (SOX5), rs1591833522 (SOX5), rs1591833842 (SOX5), and 21 more.
The 29 positions sit in or beside 1 gene: SOX5. 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.
It is a record of what genome-wide studies have reported about Lamb-Shaffer Syndrome, 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.
Lamb-Shaffer Syndrome is diagnosed by a clinician — not from a genotype. None of the 29 variants on this page is used by any guideline to predict, screen for or diagnose 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
Licensed CC BY-NC 4.0: free to read, share and adapt for non-commercial use, naming MyGeneLog™ and linking the exact page. Commercial use, including training or serving a commercial AI system, needs a licence — https://www.mygenelog.com/license
Lamb-Shaffer Syndrome. MyGeneLog™. https://www.mygenelog.com/conditions/lamb-shaffer-syndrome
Lamb-Shaffer Syndrome is the condition the GWAS Catalog files under "Lamb-Shaffer syndrome". 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.
Genome-wide studies have reported 29 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 1 gene: SOX5. These are where the positions sit, not proof of how they act.
No. They are population-level findings of small effect. Lamb-Shaffer 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.