ClinGen Dosage Sensitivity Curation Page

SOX8

  • Curation Status: Complete

Location Information

Select assembly: (NC_000016.9) (NC_000016.10)
  • Haploinsufficiency score: 0
  • Strength of Evidence (disclaimer): No evidence for dosage pathogenicity

Haploinsufficiency phenotype comments:

Terminal deletions in chromosome 16pter, extending to and including the SOX8 gene, have been associated with alpha-thalassemia mental retardation syndrome (ATR-16), a contiguous gene deletion syndrome. It has been generally proposed that SOX8 is a good candidate gene contributing to the mental retardation phenotype seen in ATR-16 patients (PMIDs 10662550, 18076105 and 10631133). Notably, the report by Bezarra et al (18492098) is not consistent with this. Gibson et al. (2008) reported an 8-year-old girl with ATR-16 syndrome associated with a do novo submicroscopic terminal deletion at chromosome 16p encompassing at least 1 Mb and including the SOX8 gene. Gibson et al. (2008) noted that isolated monosomy for chromosome 16p is rarely described, as most patients with this disorder have complex translocations or karyotypic abnormalities (PMID: 18492098)

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

Triplosensitivity phenotype comment:

No Identified Literature.