Support, organisations and where to read more
Family organisations, rare-disease portals and the primary clinical references, all of which this crawler tracks.
Family and patient organisations
- 17q12.org - a family-run site dedicated to this deletion; good for "what is it like day to day".
- RareChromo / Unique - UK charity with a free family guide PDF on 17q12 microdeletions (this
project ingests it).
- NORD (National Organization for Rare Disorders) - US, with a plain-language entry.
- Simons Searchlight / Simons VIP - family research community for rare CNVs; families can take part
in studies and get plain-language feedback.
- MAGP (UK clinical genetics professional body) - useful for finding the right genetics service.
Clinical references
- GeneReviews: 17q12 Recurrent Deletion Syndrome (NBK401562) - the standard clinical summary.
- Orphanet entity 96233 - European rare-disease portal entry.
- MedlinePlus Genetics - HNF1B gene page and RCAD/MODY5 material.
- Wikipedia: 17q12 microdeletion syndrome - short, and it changes; this site shows you when it changed.
A note on reading research. Papers will use different names for the same condition and will often describe only the population they saw (a kidney clinic, or a developmental clinic). When a paper's numbers look alarming or reassuring, check who they studied.
Freshest finding: The 17q12 Patient Registry is an online registry for people with chromosome 17q12 deletion or duplication syndrome.
Tracked sources
The Sources page lists every source the crawler knows about, when it last ran, how many documents it contributed and whether it is currently reachable. Sources that return errors repeatedly are marked dead rather than silently dropped.
Suggested reading order for a new family
- A family organisation page (17q12.org or the Unique guide) for the human picture.
- GeneReviews for the clinical picture and surveillance schedule.
- This site's New insights page for anything recent, with links to the exact sentences.
- Your own genetics team, with the lab report in hand.
How to check a claim on this site
Every insight shows: the quote it came from, the document it came from, how many independent documents support it, and a confidence score. If a claim has corroboration 1 and low confidence, it is a lead to check - not a conclusion.
Latest evidence in the collected corpus
For Patients – 17q12 Patient Registry
The 17q12 Patient Registry is an online registry for people with chromosome 17q12 deletion or duplication syndrome.
“The 17q12 Patient Registry collects data on the following topics: Socio-demographics Medical history and diagnostics Treatment and disease progression Management of care Quality of life Is the data secure?”corroboration 1 · confidence 86% · updated 2026-11-13 · source
Patient Organizations - National Organization for Rare Disorders
ODB Disclaimer: Please note that NORD provides this information for the benefit of the rare disease community.
“ODB Disclaimer: Please note that NORD provides this information for the benefit of the rare disease community.”corroboration 1 · confidence 80% · updated 2026-11-13 · source
Patient Organizations - National Organization for Rare Disorders
ODB Disclaimer: Please note that NORD provides this information for the benefit of the rare disease community.
“ODB Disclaimer: Please note that NORD provides this information for the benefit of the rare disease community.”corroboration 1 · confidence 80% · updated 2026-11-13 · source
17q12 Foundation - National Organization for Rare Disorders
For Patients & Caregivers For Organizations For Clinicians & Researchers Sign Up for NORD News Make 2026 Count: Gift research, care, and advocacy for families everywhere Your gift today fuels progress in the lab, in clinics, on Capitol Hill and for rare families who can't wait another year for answers.
“For Patients & Caregivers For Organizations For Clinicians & Researchers Sign Up for NORD News Make 2026 Count: Gift research, care, and advocacy for families everywhere Your gift today fuels progress in the lab, in clinics, on Capitol Hill and for rare…”corroboration 1 · confidence 80% · updated 2026-11-13 · source
New observation reported: In this report, we describe a 12-year-old Japanese female with early-onset diabetes mellitus, pancreatic hypop…
A source describes a new or expanded observation: “In this report, we describe a 12-year-old Japanese female with early-onset diabetes mellitus, pancreatic hypoplasia, and multiple renal cysts, harboring a novel de novo HNF1B missense variant (p.Met160Thr) located within the POU-specific domain.”
“In this report, we describe a 12-year-old Japanese female with early-onset diabetes mellitus, pancreatic hypoplasia, and multiple renal cysts, harboring a novel de novo HNF1B missense variant (p.Met160Thr) located within the POU-specific domain.”corroboration 1 · confidence 97% · updated 2026-11-14 · source
New observation reported: We report a novel in-frame deletion of HNF1B in a family with renal cysts and MODY, furthering our understandi…
A source describes a new or expanded observation: “We report a novel in-frame deletion of HNF1B in a family with renal cysts and MODY, furthering our understanding of HNF1B -related phenotypes.”
“We report a novel in-frame deletion of HNF1B in a family with renal cysts and MODY, furthering our understanding of HNF1B -related phenotypes.”corroboration 1 · confidence 97% · updated 2026-11-14 · source
New observation reported: Here, we report a novel in-frame deletion of HNF1B in a family with renal cysts and MODY, furthering our under…
A source describes a new or expanded observation: “Here, we report a novel in-frame deletion of HNF1B in a family with renal cysts and MODY, furthering our understanding of HNF1B -related phenotypes.”
“Here, we report a novel in-frame deletion of HNF1B in a family with renal cysts and MODY, furthering our understanding of HNF1B -related phenotypes.”corroboration 1 · confidence 97% · updated 2026-11-14 · source
New observation reported: In conclusion, here we report a novel model of non-small cell lung cancer driven by a mutation in Kras and del…
A source describes a new or expanded observation: “In conclusion, here we report a novel model of non-small cell lung cancer driven by a mutation in Kras and deletion of Mst1/2 kinases.”
“In conclusion, here we report a novel model of non-small cell lung cancer driven by a mutation in Kras and deletion of Mst1/2 kinases.”corroboration 1 · confidence 97% · updated 2026-11-14 · source
This entry is version 15. The analytical engine only appends the clearly-labelled “Latest evidence” section; the text above is curated and is not rewritten by the machine. Confidence 75% · last updated 2026-11-14 16:44