The DIABLO gene has been associated with autosomal dominant nonsyndromic hearing loss using the ClinGen Clinical Validity Framework as of 9/21/21. This association was made using case-level data only. At least 3 missense variants have been reported in humans. DIABLO was first associated with this disease in humans as early as 2011 (Cheng et al. 2011; PMID: 21722859). Association is seen in at least 2 probands in publications (PMIDs: 21722859, 26969326). Variants in this gene segregated with disease in 17 additional family members. This gene-disease association is supported by in vitro functional assays. In summary, there is limited evidence to support this gene-disease association. Although more evidence is needed to support a causal role, no convincing evidence has emerged that contradicts the gene-disease association. This classification was approved by the ClinGen Hearing Loss Working Group on 12/19/2017. It was reevaluated on 9/21/2021 (SOP v8). As a result of this reevaluation, the classification did not change. Although new literature was published (PMID: 26969326), the scoring still corresponded to a limited gene-disease relationship.
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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