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 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.
GRXCR1
- Curation Status: Complete
- id: ISCA-32188
- Date last evaluated: 2018-03-06
- Issue Type: ClinGen Gene Curation
- Gene type: protein-coding
- ClinGen: Search for information about GRXCR1 at clinicalgenome.org
- Entrez Gene: https://www.ncbi.nlm.nih.gov/gene/389207
- OMIM: https://omim.org/entry/613285
- Gene Reviews: https://www.ncbi.nlm.nih.gov/books/NBK1434/?term=GRXCR1
- ClinGen Haploinsufficiency Score: Gene associated with autosomal recessive phenotype
- ClinGen Triplosensitivity Score: 0
- Haploinsufficiency score: Gene associated with autosomal recessive phenotype
- Strength of Evidence (disclaimer): Gene associated with autosomal recessive phenotype
- Haploinsufficiency Phenotype: DEAFNESS, AUTOSOMAL RECESSIVE 25; DFNB25
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