17q12, explained for kidsdeletion syndrome · static snapshot
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Something new reported Kidneys and diabetes 1 supporting source confidence 97% novelty 90%

Someone reported something new: Maturity-onset diabetes of the young type 5 (MODY5), causally associated with loss-of-function of the HNF1B ge…

A source describes a new or expanded observation: “Maturity-onset diabetes of the young type 5 (MODY5), causally associated with loss-of-function of the HNF1B gene, is a rare form of monogenic diabetes that has been underdiagnosed in part because microdeletions of chromosome 17q12 encompassing the HNF1B gene cannot be detected by sequencing-based ap”

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How this was derived

Flagged by novelty language (“for the first time”, “expands the phenotype”, …) in pmc.

Generated 2026-11-13, last changed yesterday. Dedup key expansion:5a474e. The engine re-checks this insight on every analysis run; if more sources agree, its corroboration and confidence go up and it reappears as “new”.

Evidence (1 quote)

Case-based learning: a case of maturity-onset diabetes of the young 5 (MODY5) due to 17q12 microdeletion with a diminished plasma glucagon level peer_reviewed · published 2025-01-01 · live page
Maturity-onset diabetes of the young type 5 (MODY5), causally associated with loss-of-function of the HNF1B gene, is a rare form of monogenic diabetes that has been underdiagnosed in part because microdeletions of chromosome 17q12 encompassing the HNF1B gene cannot be detected by sequencing-based approaches, which accounts for about 50% of MODY5 cases.

Supporting documents (1)

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Case-based learning: a case of maturity-onset diabetes of the young... pmc 2025-01-01 yesterday 1.00