The DCDC2 gene was associated with autosomal recessive nonsyndromic hearing loss in 2015 by Grati et al. (25601850). At least 1 missense variant has been reported in a proband. The variant segregated in 7 additional family members. This gene-disease association is supported by case-level, segregation and experimental evidence. Expert review concluded a limited 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 8/31/2020.
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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