NUP160 was first reported in relation to autosomal recessive nephrotic syndrome 19 in 2018 (Braun et al., PMID: 30179222). Nephrotic syndrome 19 is characterized as a disease of renal glomerular filter, featuring proteinuria, edema, and hypoalbuminemia. It does not respond to drug treatment and inevitably progresses to end-stage renal disease, thus requiring dialysis or renal transplantation for survival. Renal histology shows focal segmental glomerulosclerosis. 5 variants (missense, in-frame indel, nonsense,) that have been reported in 3 probands in 3 publications (PMIDs: 30179222, 30910934,38650033) are included in this curation. The mechanism of pathogenicity is unclear. This gene-disease relationship is also supported by a fly rescue model and knockout mouse models (PMIDs: 30910934, 38224683). This gene-disease pair was originally evaluated by the Glomerulopathy GCEP on Feburary 12, 2023. It was re-evaluated on July 23, 2024. As a result of this reevaluation, the classification increased from Limited to Moderate with the addition of a new individual case and mouse model (PMIDs: 38650033, 38224683).
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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