DNAJB11 was first reported in relation to an autosomal recessive ciliopathy in 2021. To date, two cases from two publications have reported biallelic inheritance of DNAJB11 variants in two individuals presenting with an earlier onset, much more severe phenotype than individuals with a monoallelic variant (PMIDs 34177435 and 33129895). This gene-disease association is supported by an expression study. In summary, there is limited evidence to support this gene-disease relationship between DNAJB11 and autosomal recessive ciliopathy. Although more evidence is needed to support a causal role, no convincing evidence has emerged that contradicts the gene-disease relationship. This classification was approved by the ClinGen Kidney Cystic and Ciliopathy Disorders GCEP on the meeting date 4/27/2022 (SOP Version 8).
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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