The OTOG gene has been associated with autosomal recessive nonsyndromic hearing loss using the ClinGen Clinical Validity Framework as of 9/28/2017. This association was made using case-level data only. At least 3 variants (missense, nonsense, & frameshift) have been published in humans (23122587). Association is seen in at least 2 probands in 1 publication (23122587). Variants in this gene segregated with disease in 4 additional family members. Additionally, the Partners Laboratory for Molecular Medicine has six unpublished internal cases of probands with mild sensorineural hearing loss and homozygous or compound heterozygous loss of function variants. This gene-disease association is supported by mouse and zebrafish models and expression studies. In summary, OTOG is definitively associated with autosomal recessive nonsyndromic hearing loss. This classification was approved by the ClinGen Hearing Loss Working Group on 6/28/2018.
The GenCC data are available free of restriction under a CC0 1.0 Universal (CC0 1.0) Public Domain Dedication. The GenCC requests that you give attribution to GenCC and the contributing sources whenever possible and appropriate. The accepted Flagship manuscript is now available from Genetics in Medicine (https://www.gimjournal.org/article/S1098-3600(22)00746-8/fulltext).
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