ClinGen Dosage Sensitivity Curation Page
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
Select assembly:
(NC_000004.11)
(NC_000004.12)
- 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