SEC61B was first reported in relation to autosomal dominant polycystic liver disease (ADPLD) in 2017 (Besse et al., 2017, PMID: 28375157). Two unique variants (frameshift, start-loss) reported in two probands in one publication are included in this curation (PMID: 28375157). One patient had numerous small liver cysts and 1 kidney cyst and the other had numerous small liver cysts and no kidney cysts. Additional clinical features were not provided. These heterozygous mutations in SEC61B lead to complete loss of function of the affected allele (PMID: 28375157). This gene-disease relationship is also supported by the related roles of ADPLD proteins and in vitro functional assays (PMID:28973524,28375157). In summary, there remains “Limited” evidence supporting the relationship between SEC61B and ADPLD. While more evidence is required to establish this relationship definitively, no convincing contradictory evidence has emerged. This gene-disease pair was originally evaluated by the Kidney Cystic and Ciliopathy GCEP on 06/10/2020 (SOP Version 7). It was re-evaluated on 08/23/2023 and the classification did not change (SOP Version 9).
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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