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