17q12 Knowledge Basedeletion syndrome · static snapshot
Adults Scientists Kids EN NL
All content was collected from public internet sources and processed with the help of AI/LLM software. This site is informative only — do not draw conclusions; verify with the original sources. Full disclaimer
Phenotype expansion kidney and urinary tract 1 supporting source confidence 97% novelty 90%

New observation reported: We described the first Brazilian case of MODY5 due to a heterozygous whole-gene deletion in HNF1B, who develop…

A source describes a new or expanded observation: “We described the first Brazilian case of MODY5 due to a heterozygous whole-gene deletion in HNF1B, who developed rapidly progressive renal failure and death.”

More phenotype expansion

How this was derived

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

Generated 2026-11-13, last changed today. Dedup key expansion:3dbf9e. 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)

Unexpected finding of a whole HNF1B gene deletion during the screening of rare MODY types in a series of Brazilian patients negative for GCK and HNF1A mutations. peer_reviewed · published 2016-06-01 · live page
We described the first Brazilian case of MODY5 due to a heterozygous whole-gene deletion in HNF1B, who developed rapidly progressive renal failure and death.

Supporting documents (1)

ArticleSourcePublishedSeenRelevance
Unexpected finding of a whole HNF1B gene deletion during the screen... pubmed 2016-06-01 yesterday 1.00