GRXCR1 |
- 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)