ClinGen Dosage Sensitivity Curation Page

HNF1B

  • Curation Status: Complete

Location Information

Select assembly: (NC_000017.10) (NC_000017.11)
Evidence for haploinsufficiency phenotype
PubMed ID Description
10720943 Bingham et al. (2000) sequenced HNF1B in 6 patients with MODY and found a de novo 5 bp deletion in exon 4 in one proband.
15068978 Bellann?-Chantelot et al. (2004) report 8 new mutations in HNF1B in patients with MODY5. Two nonsense mutations (one was de novo) and one de novo splice site mutation was identified. Mutations were not detected in 212 normal control chromosomes.
9398836 Horikawa et al. (1997) sequenced HNF1B in 57 probands with maturity onset diabetes of the young (MODY). They found a nonsense mutation (R177X) in a proband and the affected sister and mother. The mutation was not found in 53 unrelated normal controls.

Haploinsufficiency phenotype comments:

RCAD

  • Triplosensitivity score: 0
  • Strength of Evidence (disclaimer): No evidence for dosage pathogenicity

Triplosensitivity phenotype comment:

Located within the 17q12 duplication syndrome (614526). Note: Mefford et al. (2007) PMID:17924346 idenfied a complex duplication in a patient with intellectual disability and seizures. A 27 kb duplication involves LHX1 and a second 259 kb duplication includes HNF1B. Both duplications are present in the unaffected mother.