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)
Triplosensitivity:
Not Yet Evaluated
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)