ClinGen Dosage Sensitivity Curation Page


  • Curation Status: Complete

Location Information

  • 16q23.1-q23.2
  • GRCh37/hg19 chr16: 78,133,310-79,246,564
  • View: NCBI | Ensembl | UCSC
  • GRCh38/hg38 chr16: 78,099,413-79,212,667
  • View: NCBI | Ensembl | UCSC
Select assembly: (NC_000016.9) (NC_000016.10)
  • Haploinsufficiency score: Gene associated with autosomal recessive phenotype
  • Strength of Evidence (disclaimer): Gene associated with autosomal recessive phenotype

Haploinsufficiency phenotype comments:

Mutations and deletions (whole gene and exon-level) affecting both copies of WWOX are associated with autosomal recessive early infantile epileptic encephalopathy and autosomal recessive spinocerebellar ataxia 12. See Mignot et al., 2015 (PMID 25411445) for a discussion of genotype-phenotype associations in these recessive disorders.

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

Triplosensitivity phenotype comment:

Whole gene duplication of WWOX is not currently known to be associated with developmental phenotypes.