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| Proteinuric renal disease v1.67 | NUP85 | Eleanor Williams Publications for gene: NUP85 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Proteinuric renal disease v1.66 | NUP85 | Eleanor Williams Phenotypes for gene: NUP85 were changed from to Nephrotic syndrome, type 17 #618176 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Proteinuric renal disease v1.65 | NUP85 | Eleanor Williams Mode of inheritance for gene: NUP85 was changed from to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Proteinuric renal disease v1.64 | NUP85 | Eleanor Williams Classified gene: NUP85 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Proteinuric renal disease v1.64 | NUP85 | Eleanor Williams Added comment: Comment on list classification: 3 families with SRNS and variants in NUP85. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Proteinuric renal disease v1.64 | NUP85 | Eleanor Williams Gene: nup85 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Proteinuric renal disease v1.63 | NUP85 |
Eleanor Williams commented on gene: NUP85: In OMIM this gene is associated with Nephrotic syndrome, type 17 (618176). PMID: 30179222 - Braun et al 2018 - 4 individuals from 3 unrelated families with SRNS (families A5195, A3259, and NCR3227/3310) were found to have variants in NUP85 by high-throughput exon sequencing. Two mutations were homozygous missense mutations (c.1430C>T, p.Ala477Val, and c.1933C>T, p.Arg645Trp). One family (NCR3227/3310) carried 2 compound heterozygous alleles (c.405+1G>A and c.1741G>C, p.Ala581Pro), which segregated from the maternal and the paternal side, respectively. All families had SRNS and microscopic hematuria. Family NCR3227/3310 additionally displayed intellectual disability, but showed no structural brain defects. Functional data - morpholino knockdown of nup85 in Xenopus disrupted glomerulogenesis. Re-expression of WT mRNA, but not of mRNA reflecting mutations from SRNS patients, mitigated this phenotype. We furthermore found that CRISPR/Cas9 knockout of NUP85 in podocytes activated Cdc42, an important effector of SRNS pathogenesis. |
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| Proteinuric renal disease v1.16 | NUP85 | Eleanor Williams reviewed gene: NUP85: Rating: GREEN; Mode of pathogenicity: ; Publications: PMID: 30179222; Phenotypes: Nephrotic syndrome, type 17 #618176; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Proteinuric renal disease v1.15 | NUP85 |
Eleanor Williams gene: NUP85 was added gene: NUP85 was added to Proteinuric renal disease. Sources: NHS GMS Mode of inheritance for gene: NUP85 was set to |
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