The BDP1 gene has been associated with autosomal recessive nonsyndromic hearing loss using the ClinGen Clinical Validity Framework as of 11/15/2016. This association was made using case-level data only. At least 1 variant occurring at the stop codon has been reported in humans. BDP1 was first associated with this disease in humans as early as 2013 (Girotto et al.). Association is seen in at least 1 probands in 1 publications (24312468). Variants in this gene segregated with disease in 3 additional family members. This gene-disease association is supported by an expression study. 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 originally evaluated by the ClinGen Hearing Loss Gene Curation Expert Panel on 9/11/2017. It was reevaluated on 3/26/2021. As a result of this reevaluation, the classification did not change.
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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