ClinGen Dosage Sensitivity Curation Page


  • Curation Status: Complete

Location Information

Select assembly: (NC_000003.11) (NC_000003.12)
Evidence for haploinsufficiency phenotype
PubMed ID Description
17522144 Mutation analysis on a cohort of 120 patients with congenital eye anomalies identified 12 cases with heterozygous SOX2 mutations; 5 whole gene deletions, 1 partial deletion, and 6 intragenic mutations are reported.
16543359 Heterozygous, loss-of-function SOX2 mutations are identified in three unrelated individuals with Anophthalmia-Esophageal-Genital (AEG) syndrome (MIM# 600992). One case of a 2.7 Mb deletion encompassing SOX2 and associated with a cryptic translocation t(3;7)(p28;p21.3) is described. The other two have a SOX2 nonsense or missense mutation.
12612584 A deletion containing SOX2 was identified at the 3q breakpoint in a child with t(3;11)(q26.3;p11.2) associated with bilateral anophthalmia
  • Triplosensitivity score: 0
  • Strength of Evidence (disclaimer): No evidence for dosage pathogenicity