ClinGen Dosage Sensitivity Curation Page

SOX6

  • Curation Status: Complete

Location Information

Select assembly: (NC_000011.9) (NC_000011.10)
  • Haploinsufficiency score: 0
  • Strength of Evidence (disclaimer): No evidence for dosage pathogenicity

Haploinsufficiency phenotype comments:

There is one report of a baby with craniosynostosis who had a de novo balanced translocation with a breakpoint within SOX6 (Tagariello, et al., 2006, PMID: 16258006). A second paper - authors report a disruption of the SOX6 gene from a balanced translocation (karyotype of 46,XY, t(9;11)(q33.1;p15.1) found in the course of a genetic workup for craniosynostosis (PMID: 21511965)

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