ClinGen Dosage Sensitivity Curation Page

PITX2

  • Curation Status: Complete

Location Information

Select assembly: (NC_000004.11) (NC_000004.12)
Evidence for haploinsufficiency phenotype
PubMed ID Description
14985297 Lines (2004): Good review of PIX2 mutations in Axenfeld-Rieger malformations,including previously published and novel mutations (frameshifts, nonsense, splice site, and deletions)-many in multigenerational families.

Haploinsufficiency phenotype comments:

Axenfeld-Rieger syndrome, type 1

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