STRC
  • 30
    Haplo
    Score
  • -5
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
STRC (HGNC:16035) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
stereocilin
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
DFNB16
Alias symbols
No aliases found
%HI
40.85(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0(Read more about gnomAD pLI score)
LOEUF
0.71(Read more about gnomAD LOEUF score)
Cytoband
15q15.3
Genomic Coordinates
GRCh37/hg19: chr15:43891761-43910998 NCBI Ensembl UCSC
GRCh38/hg38: chr15:43599563-43618800 NCBI Ensembl UCSC
MANE Select Transcript
NM_153700.2 ENST00000450892.7 (Read more about MANE Select)
Function
Essential to the formation of horizontal top connectors between outer hair cell stereocilia. {ECO:0000250}. (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-32026
ClinGen Curation ID:
CCID:007949
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
Gene Associated with Autosomal Recessive Phenotype (30)
Read full report...
Triplosensitivity:
Not Yet Evaluated
Read full report...
Last Evaluated:
08/22/2016

Haploinsufficiency (HI) Score Details

HI Score:
30
HI Evidence Strength:
Gene Associated with Autosomal Recessive Phenotype (Disclaimer)
HI Disease:
  • autosomal recessive nonsyndromic hearing loss 16 Monarch
HI Evidence Comments:
Variation in STRC has been reported in individuals with autosomal recessive nonsyndromic hearing loss (ARNSHL). It is important to note that STRC is located close to the CATSPER gene which has been found to be crucial to sperm viability and therefore large deletions including STRC have been shown to cause hearing loss as well as male infertility (See genereviews Hildebrand 2017 PMID: 20301780). In summary, the evidence to support the association between STRC and ARNSHL has been expert reviewed by the ClinGen Hearing Loss Working Group and classified as DEFINITIVE.

Triplosensitivity (TS) Score Details

TS Evidence Strength:
Not Yet Evaluated (Disclaimer)

Genomic View

Select assembly: (NC_000015.9) (NC_000015.10)