OTOF Chromosome 2

Otoferlin
483 variants 483 Health Risk

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What This Gene Does
Mutations in this gene are a cause of neurosensory nonsyndromic recessive deafness, DFNB9. The short form of the encoded protein has 3 C2 domains, a single carboxy-terminal transmembrane domain found also in the C. elegans spermatogenesis factor FER-1 and human dysferlin, while the long form has 6 C2 domains. The homology suggests that this protein may be involved in vesicle membrane fusion. Several transcript variants encoding multiple isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
Ferlin family
Locus Type
gene with protein product
Location
2p23.3
Ensembl
ENSG00000115155
Associated Conditions (28)
Auditory neuropathy spectrum disorder
Autosomal recessive nonsyndromic hearing loss 9
Nonsyndromic genetic hearing loss
OTOF-related disorder
Inborn genetic diseases
Hearing impairment
Auditory neuropathy
Hearing loss
autosomal recessive
Melanoma
Childhood onset hearing loss
Bilateral sensorineural hearing impairment
Thyroid cancer
nonmedullary
1
Rare genetic deafness
Ovarian serous cystadenocarcinoma
Malignant tumor of esophagus
Uterine corpus endometrial carcinoma
Thymoma
+8 more conditions
Key Variants
RS1064795233
Conflicting classifications of pathogenicity
Auditory neuropathy spectrum disorder, Auditory neuropathy spectrum disorder
Health Risk
RS111033329
Conflicting classifications of pathogenicity
Autosomal recessive nonsyndromic hearing loss 9, Autosomal recessive nonsyndromic hearing loss 9
Health Risk
RS111033330
Conflicting classifications of pathogenicity
Nonsyndromic genetic hearing loss, Autosomal recessive nonsyndromic hearing loss 9, Nonsyndromic genetic hearing loss
Health Risk
RS111033351
Conflicting classifications of pathogenicity
Autosomal recessive nonsyndromic hearing loss 9, Autosomal recessive nonsyndromic hearing loss 9
Health Risk
RS111033352
Conflicting classifications of pathogenicity
Autosomal recessive nonsyndromic hearing loss 9, Autosomal recessive nonsyndromic hearing loss 9
Health Risk
RS111033366
Conflicting classifications of pathogenicity
Health Risk
RS111033393
Conflicting classifications of pathogenicity
Autosomal recessive nonsyndromic hearing loss 9, OTOF-related disorder, Autosomal recessive nonsyndromic hearing loss 9
Health Risk
RS111033396
Conflicting classifications of pathogenicity
Autosomal recessive nonsyndromic hearing loss 9, OTOF-related disorder, Autosomal recessive nonsyndromic hearing loss 9
Health Risk
RS111033424
Conflicting classifications of pathogenicity
Autosomal recessive nonsyndromic hearing loss 9, Autosomal recessive nonsyndromic hearing loss 9
Health Risk
RS112312933
Conflicting classifications of pathogenicity
Autosomal recessive nonsyndromic hearing loss 9, Autosomal recessive nonsyndromic hearing loss 9
Health Risk
RS117985483
Conflicting classifications of pathogenicity
Autosomal recessive nonsyndromic hearing loss 9, Autosomal recessive nonsyndromic hearing loss 9
Health Risk
RS11893228
Conflicting classifications of pathogenicity
Autosomal recessive nonsyndromic hearing loss 9, Autosomal recessive nonsyndromic hearing loss 9
Health Risk
All Variants (483)
RSID Category Clinical Significance Conditions
RS555829802 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS556182666 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 9, Autosomal recessive nonsyndromic hearing loss 9
RS55639868 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 9, Autosomal recessive nonsyndromic hearing loss 9
RS556493936 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS560125081 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 9, Autosomal recessive nonsyndromic hearing loss 9
RS56054534 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 9, Ovarian serous cystadenocarcinoma, Autosomal recessive nonsyndromic hearing loss 9
RS56332208 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 9, Malignant tumor of esophagus, Autosomal recessive nonsyndromic hearing loss 9
RS566846495 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 9, Autosomal recessive nonsyndromic hearing loss 9
RS567005448 Health Risk Conflicting classifications of pathogenicity —
RS572579351 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 9, Autosomal recessive nonsyndromic hearing loss 9
RS574277214 Health Risk Conflicting classifications of pathogenicity —
RS576401026 Health Risk Conflicting classifications of pathogenicity —
RS61742191 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 9, Autosomal recessive nonsyndromic hearing loss 9
RS61744000 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 9, Uterine corpus endometrial carcinoma, Thymoma
RS61744348 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 9, Autosomal recessive nonsyndromic hearing loss 9
RS61747283 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 9, Autosomal recessive nonsyndromic hearing loss 9
RS62640381 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 9, Autosomal recessive nonsyndromic hearing loss 9
RS62641623 Health Risk Conflicting classifications of pathogenicity Childhood onset hearing loss, Childhood onset hearing loss
RS727503356 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 9, Autosomal recessive nonsyndromic hearing loss 9
RS727503359 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 9, Inborn genetic diseases, Autosomal recessive nonsyndromic hearing loss 9
RS727504985 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS727505096 Health Risk Conflicting classifications of pathogenicity —
RS727505189 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS73920281 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 9, Autosomal recessive nonsyndromic hearing loss 9
RS73920284 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 9, Autosomal recessive nonsyndromic hearing loss 9
RS745399096 Health Risk Conflicting classifications of pathogenicity —
RS745785393 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 9, OTOF-related disorder, Autosomal recessive nonsyndromic hearing loss 9
RS746943889 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 9, Autosomal recessive nonsyndromic hearing loss 9
RS747844017 Health Risk Conflicting classifications of pathogenicity —
RS749384668 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 9, Autosomal recessive nonsyndromic hearing loss 9
RS750669994 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 9, Autosomal recessive nonsyndromic hearing loss 9
RS751557477 Health Risk Conflicting classifications of pathogenicity —
RS752266635 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS752804141 Health Risk Conflicting classifications of pathogenicity —
RS752881057 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS753580324 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 9, Autosomal recessive nonsyndromic hearing loss 9
RS754508360 Health Risk Conflicting classifications of pathogenicity —
RS755835793 Health Risk Conflicting classifications of pathogenicity —
RS757360892 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 9, Inborn genetic diseases, Autosomal recessive nonsyndromic hearing loss 9
RS757909285 Health Risk Conflicting classifications of pathogenicity —
RS758305199 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS759273810 Health Risk Conflicting classifications of pathogenicity —
RS760178516 Health Risk Conflicting classifications of pathogenicity —
RS760896684 Health Risk Conflicting classifications of pathogenicity —
RS761399081 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 9, Autosomal recessive nonsyndromic hearing loss 9
RS762665959 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS764458682 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 9, Inborn genetic diseases, Autosomal recessive nonsyndromic hearing loss 9
RS764474318 Health Risk Conflicting classifications of pathogenicity —
RS765669745 Health Risk Conflicting classifications of pathogenicity —
RS768889857 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 9, Autosomal recessive nonsyndromic hearing loss 9
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