Deafness_Isolated
Gene: STRC

STRC (stereocilin)
EnsemblGeneIds (GRCh38): ENSG00000242866
EnsemblGeneIds (GRCh37): ENSG00000242866
OMIM: 606440, Gene2Phenotype
STRC is in 5 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

DEFINITIVE by ClinGen, multiple families and mouse model. Note CNVs containing STRC and neighbouring CATSPER2 result in male infertility and deafness.
Created: 3 Oct 2020, 2:18 a.m. | Last Modified: 3 Oct 2020, 2:18 a.m.

Panel Version: 0.558

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Deafness, autosomal recessive 16, MIM# 603720

Publications

Created: 3 Oct 2020, 2:18 a.m.
Last Modified: 3 Oct 2020, 2:18 a.m.
Panel version: Imported from Deafness_IsolatedAndComplex panel version 0.558

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Victorian Clinical Genetics Services
Melbourne Genomics Health Alliance Deafness Flagship
Melbourne Genomics Health Alliance Deafness Flagship
Victorian Clinical Genetics Services

Phenotypes

Deafness, autosomal recessive 16, MIM# 603720

Tags

SV/CNV

OMIM

606440

Clinvar variants

Variants in STRC

Penetrance

None

Publications

Panels with this gene