Research workflows

Draft a source-backed HNF1B gene summary

GeneReviews passages and ClinGen curation become a concise report draft that separates HNF1B-related disease from the broader 17q12 deletion syndrome.

Ask your AI client

Use GeneFoundry to draft a short HNF1B gene summary for a research report. Check GeneReviews and ClinGen, cover the renal and diabetes associations, and distinguish intragenic HNF1B variants from the broader 17q12 deletion syndrome. Cite the supporting chapter and curation. Do not make a patient diagnosis or classify an individual variant.
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The result

HNF1B haploinsufficiency is associated with kidney, urogenital and endocrine abnormalities. Pathogenic variants within HNF1B cause renal cysts and diabetes syndrome, including kidney and urinary-tract malformations and MODY5. The recurrent 17q12 deletion includes HNF1B and additional genes; its broader phenotype should not be attributed to HNF1B alone.

Evidence supporting the report draft
TopicSource-backed findingSource
Gene–disease validityDefinitive association with renal cysts and diabetes syndrome; autosomal dominant inheritance. Curated 19 January 2021.ClinGen HNF1B curation
Renal and endocrine associationThe molecular-genetics section links HNF1B haploinsufficiency to kidney, urogenital and endocrine abnormalities.GeneReviews · NBK401562
Deletion-syndrome contextThe chapter describes variable renal, diabetes and neurodevelopmental manifestations of 17q12 deletion syndrome.GeneReviews abstract · PMID 27929632
Scope of the evidenceOther genes in the deleted interval likely contribute to neurodevelopmental features; deletion-syndrome observations cannot all be assigned to HNF1B.GeneReviews · NBK401562

GeneReviews®: University of Washington, Seattle; chapter NBK401562. Retrieved corpus metadata lists 6 February 2025; the live Bookshelf page lists a later revision, 14 August 2025. Consult the linked chapter for current wording.

The indexed summary section was empty. The recorded workflow recovered the live chapter abstract and used the available molecular-genetics and clinical passages.

Retrieved through Claude Code 2.1.261 · Claude Opus 5.

Original source records
How GeneFoundry got this

  1. Find chapters mentioning HNF1B

    Search the live GeneReviews index by gene symbol; three chapter PubMed IDs were returned.

    genereviews_search_genereviews

    {
  "gene_symbol": "HNF1B",
  "retmax": 20
}

  2. Locate relevant chapter passages

    Search the renal, diabetes and genetic context; matching passages identify the 17q12 deletion chapter NBK401562.

    genereviews_search_passages

    {
  "q": "HNF1B renal cysts diabetes 17q12 deletion",
  "gene": "HNF1B",
  "mode": "full",
  "limit": 8,
  "sections": [
    "summary",
    "clinical_features",
    "molecular_genetics"
  ]
}

  3. Check the single-gene curation

    Retrieve the HNF1B gene–disease validity record from ClinGen.

    clingen_get_gene_validity

    {
  "gene_symbol": "HNF1B",
  "response_mode": "compact"
}

  4. Check summary availability

    The chapter-section endpoint returned no summary passages and explicitly directed the caller to the chapter abstract.

    genereviews_get_chapter_section

    {
  "nbk_id": "NBK401562",
  "section": "summary"
}

  5. Read diabetes and clinical context

    Retrieve focused clinical passages from the identified chapter.

    genereviews_search_passages

    {
  "q": "maturity-onset diabetes of the young MODY onset insulin pancreatic hypoplasia",
  "nbk_id": "NBK401562",
  "sections": [
    "clinical_features"
  ],
  "mode": "full",
  "limit": 3
}

  6. Read the molecular-genetics section

    Retrieve the complete section to preserve the distinction between HNF1B haploinsufficiency and contributions from other deleted genes.

    genereviews_get_chapter_section

    {
  "nbk_id": "NBK401562",
  "section": "molecular_genetics"
}

  7. Recover the chapter abstract

    Retrieve the live PubMed abstract for the confirmed chapter PMID.

    genereviews_get_abstract

    {
  "pmid": "27929632"
}

This is a gene-level research summary. A definitive gene–disease relationship does not classify a particular variant or establish a diagnosis in a patient.

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