Activity
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| Proteinuric renal disease v6.18 | NUP205 | Ida Ertmanska Mode of pathogenicity for gene: NUP205 was changed from Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Proteinuric renal disease v6.17 | NUP205 | Ida Ertmanska Mode of pathogenicity for gene: NUP205 was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Proteinuric renal disease v6.13 | NUP205 | Achchuthan Shanmugasundram Tag Q3_26_promote_green tag was added to gene: NUP205. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Proteinuric renal disease v6.13 | NUP205 | Achchuthan Shanmugasundram Classified gene: NUP205 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Proteinuric renal disease v6.13 | NUP205 | Achchuthan Shanmugasundram Added comment: Comment on list classification: There are three unrelated cases and functional evidence reported in support of the association of NUP205 with nephrotic syndrome. Hence, this gene can be promoted to green rating in the next GMS update. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Proteinuric renal disease v6.13 | NUP205 | Achchuthan Shanmugasundram Gene: nup205 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Proteinuric renal disease v6.12 | NUP205 | Achchuthan Shanmugasundram Phenotypes for gene: NUP205 were changed from ?Nephrotic syndrome, type 13 #616893 to ?Nephrotic syndrome, type 13 , OMIM:616893; nephrotic syndrome, type 13, MONDO:0014818 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Proteinuric renal disease v6.11 | NUP205 | Achchuthan Shanmugasundram Publications for gene: NUP205 were set to 26878725 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Proteinuric renal disease v6.10 | NUP205 | Achchuthan Shanmugasundram Mode of inheritance for gene: NUP205 was changed from to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Proteinuric renal disease v6.9 | NUP205 |
Achchuthan Shanmugasundram changed review comment from: PMID:26878725 (2016) reported a homozygous missense variant in the nucleoporin NUP205 gene (p.Phe1995Ser) in two siblings of Turkish descent with early-onset steroid-resistant nephrotic syndrome (SRNS) and focal segmental glomerulosclerosis (FSGS), identified via genetic mapping and whole exome sequencing. PMID:29127259 (2018) reported the same family from PMID:26878725 (2016), and an unrelated patient of Arabic descent with SRNS and FSGS and identified with homozygous p.Cys1032Tyr variant. PMID:36245711 (2022) reported a homozygous variant in NUP205 gene (p.Leu1110Pro) identified via trio exome sequencing in an Iranian paediatric patient with SRNS (age of onset - 12 months). PMID:33065118 (2021) reported supportive functional studies from Xenopus knockout which demonstrated abnormal left right patterning and dysfunctional pronephric development.; to: PMID:26878725 (2016) reported a homozygous missense variant in the nucleoporin NUP205 gene (p.Phe1995Ser) in two siblings of Turkish descent with early-onset steroid-resistant nephrotic syndrome (SRNS) and focal segmental glomerulosclerosis (FSGS), identified via genetic mapping and whole exome sequencing. PMID:29127259 (2018) reported the same family from PMID:26878725 (2016), and an unrelated patient of Arabic descent with SRNS and FSGS and identified with homozygous p.Cys1032Tyr variant. PMID:36245711 (2022) reported a homozygous variant in NUP205 gene (p.Leu1110Pro) identified via trio exome sequencing in an Iranian paediatric patient with SRNS (age of onset - 12 months). PMID:33065118 (2021) reported supportive functional studies from Xenopus knockout which demonstrated abnormal left right patterning and dysfunctional pronephric development. PMID:37565816 (2023) reported NUP205 as a key inner‑ring nucleoporin that physically associates with YAP/TAZ and is required for their nuclear import, TEAD‑mediated transcription, and podocyte survival under stress. Functionally, NUP205 knockdown reduces nuclear YAP/TAZ, down‑regulates canonical Hippo target genes, and increases podocyte death, providing strong mechanistic support that NUP205 dysfunction can drive glomerular disease. This gene has tentatively been associated with MIM #616893 in OMIM (?Nephrotic syndrome, type 13) - last accessed 27 July 2026. It is associated with nephrotic syndrome, type 13 (MONDO:0014818) with 'limited' rating by Glomerulopathy GCEP in ClinGen (https://search.clinicalgenome.org/CCID:009001). |
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| Proteinuric renal disease v6.9 | NUP205 | Achchuthan Shanmugasundram edited their review of gene: NUP205: Changed rating: GREEN; Changed publications to: 26878725, 29127259, 33065118, 36245711, 37565816; Changed phenotypes to: ?Nephrotic syndrome, type 13 , OMIM:616893, nephrotic syndrome, type 13, MONDO:0014818; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Proteinuric renal disease v6.9 | NUP205 | Achchuthan Shanmugasundram reviewed gene: NUP205: Rating: ; Mode of pathogenicity: None; Publications: 26878725, 29127259, 33065118, 36245711; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Proteinuric renal disease v1.164 | NUP205 | Eleanor Williams Phenotypes for gene: NUP205 were changed from to ?Nephrotic syndrome, type 13 #616893 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Proteinuric renal disease v1.163 | NUP205 | Eleanor Williams Publications for gene: NUP205 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Proteinuric renal disease v1.16 | NUP205 | Eleanor Williams reviewed gene: NUP205: Rating: AMBER; Mode of pathogenicity: ; Publications: PMID: 26878725; Phenotypes: ?Nephrotic syndrome, type 13 #616893; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Proteinuric renal disease v1.15 | NUP205 |
Eleanor Williams gene: NUP205 was added gene: NUP205 was added to Proteinuric renal disease. Sources: NHS GMS Mode of inheritance for gene: NUP205 was set to |
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