ClinGen Dosage Sensitivity Curation Page

GRXCR1

  • Curation Status: Complete

Location Information

Select assembly: (NC_000004.11) (NC_000004.12)

Haploinsufficiency phenotype comments:

Variation in GRXCR1 has been reported in individuals with autosomal recessive nonsyndromic hearing loss (ARNSHL), typically presenting with prelingual or congenital sensorineural deafness with some cases of vestibular dysfunction. Furthermore, the overall evidence that GRXCR1, when altered, causes ARNSHL was assessed by the ClinGen Hearing Loss Working Group and classified as DEFINITIVE after primary curation.

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