• 30
    Haplo
    Score
  • 0
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
GRXCR1 (HGNC:31673) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
glutaredoxin and cysteine rich domain containing 1
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
DFNB25
Alias symbols
PPP1R88
%HI
33.66(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0(Read more about gnomAD pLI score)
LOEUF
1.7(Read more about gnomAD LOEUF score)
Cytoband
4p13
Genomic Coordinates
GRCh37/hg19: chr4:42894730-43032675 NCBI Ensembl UCSC
GRCh38/hg38: chr4:42892713-43030658 NCBI Ensembl UCSC
MANE Select Transcript
NM_001080476.3 ENST00000399770.3 (Read more about MANE Select)
Function
May play a role in actin filament architecture in developing stereocilia of sensory cells. {ECO:0000250}. (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-32188
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
Gene Associated with Autosomal Recessive Phenotype (30)
Triplosensitivity:
No Evidence for Triplosensitivity (0)
Last Evaluated:
03/06/2018

Haploinsufficiency (HI) Score Details

HI Score:
30
HI Evidence Strength:
Gene Associated with Autosomal Recessive Phenotype (Disclaimer)
HI Disease:
  • Deafness, autosomal recessive 25 Monarch
HI Evidence 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 (TS) Score Details

TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)

Genomic View

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