ClinGen Dosage Sensitivity Curation Page


  • Curation Status: Complete

Location Information

Select assembly: (NC_000002.11) (NC_000002.12)
Evidence for haploinsufficiency phenotype
PubMed ID Description
19346217 First report of this mutation: Lacbawan (2009): Identified a nonsense mutation (E129X) in SIX3 in a family with holoprosencephaly. Second report: Domene et al. (Hum. Molec. Genet. 17: 3919-3928, 2008): Identified this same mutation in a patient with HPE.
20157829 Hehr (2010): Identified a de novo nonsense mutation (E129X) in SIX3 in a fetus with HPE.
16323008 Bendavid (2006): Identified 2 microdeletions of SIX3 in 94 fetuses with HPE.
  • Triplosensitivity score: 0
  • Strength of Evidence (disclaimer): No evidence for dosage pathogenicity