GANAB was reported in relation to autosomal dominant polycystic kidney disease with or without polycystic liver disease in 2016 (Porath et al., PMID: 27259053). At least 11 unique variants (missense, frameshift, nonsense, indel) have been reported in humans. Evidence supporting this gene-disease relationship includes case-level data and experimental data. Variants in this gene have been reported in at least 11 probands in 3 publications (PMIDs: 27259053, 28375175, 29243290). This gene-disease association is supported by protein interaction studies and biochemical functional assays. In summary GANAB is definitively associated with autosomal dominant polycystic kidney disease with or without polycystic liver disease. This classification was approved by the ClinGen Cystic and Ciliopathy Disorders GCEP on 9/9/2020. (SOP Version 7).
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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