OSBPL2 was reported with autosomal dominant nonsyndromic hearing loss in 2015 (Xing et al., PMID: 25077649). At least 4 unique variants (missense, frameshift) have been reported in humans. Evidence supporting this gene-disease relationship includes case-level data and experimental data. Variants in this gene have been reported in at least 4 probands in 3 publications (PMID: 25077649, 25759012, 30894143). Variants in this gene segregated with disease in 31 additional family members. This gene-disease association is supported by animal models and expression studies. In summary, there is moderate evidence to support this gene-disease association. While more evidence is needed to establish this association definitively, no convincing contradictory evidence has emerged. This classification was approved by the ClinGen Hearing Loss Working Group on 2/6/2020.
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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