ClinGen Dosage Sensitivity Curation Page

EXT2

  • Curation Status: Complete

Location Information

Select assembly: (NC_000011.9) (NC_000011.10)
Evidence for haploinsufficiency phenotype
PubMed ID Description
21703028 Jennes et al, (2011): This paper includes four unrelated pateints with hereditary multiple osteochondromas who had exonic deletions within EXT2. For other reports of loss of function mutations, see GeneReviews.

Haploinsufficiency phenotype comments:

Many types of heterozygous loss of function mutations (nonsense, frameshift, splice site, and deletions) have been reported in individuals with Hereditary Multiple Osteochondromas (aka Hereditary Multiple Exostoses). See GeneReviews.

  • Triplosensitivity score: 0
  • Strength of Evidence (disclaimer): No evidence available