ClinGen Dosage Sensitivity Curation Page

See New Dosage Map New! The ClinGen Dosage Sensitivity curations and downloads that are available at this site are now also available at Click on the button to access Dosage Sensitivity in the context of ClinGen's other curated information, including Gene-Disease Validity and Clinical Actionability.


  • 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