ClinGen Dosage Sensitivity Curation Page

EYA1

  • Curation Status: Complete

Location Information

Select assembly: (NC_000008.10) (NC_000008.11)

Haploinsufficiency phenotype comments:

Large number of nonsense, frameshift, missense mutations reported. Intragenic deletions also reported. Please see GeneReviews for a detailed discussion.

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