WHRN Chromosome 9
Whirlin
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What This Gene Does
This gene is thought to function in the organization and stabilization of sterocilia elongation and actin cystoskeletal assembly, based on studies of the related mouse gene. Mutations in this gene have been associated with autosomal recessive non-syndromic deafness and Usher Syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2016]
Gene Info
Gene Group
"PDZ domain containing|USH2 complex"
Locus Type
gene with protein product
Location
9q32
Ensembl
ENSG00000095397
Associated Conditions (18)
Usher syndrome type 2D
Autosomal recessive nonsyndromic hearing loss 31
WHRN-related disorder
Retinal dystrophy
Sarcoma
Ovarian serous cystadenocarcinoma
Ovarian cancer
Lymphoma
Nonpapillary renal cell carcinoma
Clear cell carcinoma of kidney
Thymoma
Retinitis pigmentosa-deafness syndrome
Hepatocellular carcinoma
Usher syndrome
Rare genetic deafness
Deafness
Hearing loss
autosomal recessive
Key Variants
RS111033459
Conflicting classifications of pathogenicity
Usher syndrome type 2D, Autosomal recessive nonsyndromic hearing loss 31, Usher syndrome type 2D
Health Risk
RS139193948
Conflicting classifications of pathogenicity
WHRN-related disorder, WHRN-related disorder
Health Risk
RS139337135
Conflicting classifications of pathogenicity
Autosomal recessive nonsyndromic hearing loss 31, Usher syndrome type 2D, WHRN-related disorder
Health Risk
RS141807746
Conflicting classifications of pathogenicity
Usher syndrome type 2D, Autosomal recessive nonsyndromic hearing loss 31, Usher syndrome type 2D
Health Risk
RS142568702
Conflicting classifications of pathogenicity
Autosomal recessive nonsyndromic hearing loss 31, Usher syndrome type 2D, WHRN-related disorder
Health Risk
RS142653982
Conflicting classifications of pathogenicity
Autosomal recessive nonsyndromic hearing loss 31, Retinal dystrophy, Autosomal recessive nonsyndromic hearing loss 31
Health Risk
RS142990800
Conflicting classifications of pathogenicity
WHRN-related disorder, WHRN-related disorder
Health Risk
RS143443833
Conflicting classifications of pathogenicity
Autosomal recessive nonsyndromic hearing loss 31, Usher syndrome type 2D, WHRN-related disorder
Health Risk
RS143728180
Conflicting classifications of pathogenicity
Autosomal recessive nonsyndromic hearing loss 31, Usher syndrome type 2D, Autosomal recessive nonsyndromic hearing loss 31
Health Risk
RS143763650
Conflicting classifications of pathogenicity
Usher syndrome type 2D, Autosomal recessive nonsyndromic hearing loss 31, WHRN-related disorder
Health Risk
RS1444564272
Conflicting classifications of pathogenicity
Health Risk
RS145985595
Conflicting classifications of pathogenicity
Usher syndrome type 2D, Autosomal recessive nonsyndromic hearing loss 31, Usher syndrome type 2D
Health Risk
All Variants (101)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS779760634 | Health Risk | Pathogenic/Likely pathogenic | Autosomal recessive nonsyndromic hearing loss 31, Usher syndrome type 2D, Autosomal recessive nonsyndromic hearing loss 31 |