Proteinuric renal disease

Gene: NUP205

Green List (high evidence)

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.

Created: 27 Jul 2026, 4:44 p.m. | Last Modified: 27 Jul 2026, 4:44 p.m.

Panel Version: 6.13

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)

Created: 27 Jul 2026, 4:33 p.m. | Last Modified: 27 Jul 2026, 4:41 p.m.

Panel Version: 6.9

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
?Nephrotic syndrome, type 13 , OMIM:616893; nephrotic syndrome, type 13, MONDO:0014818

Publications

• 26878725
• 29127259
• 33065118
• 36245711
• 37565816

I don't know

This gene was part of an initial gene list collated by Elizabeth Watson, North Bristol NHS Trust, February 2019 on behalf of the GMS Renal Specialist Test Group. Gene Symbol submitted: NUP205; Suggested initial gene rating: amber; Evidence for inclusion: PMID: 26878725; Other comments: Amber: One patient with NS and rare hom NUP205 variant plus functional work. No positive cases in >600 cases referred for SRNS.

Created: 4 Feb 2019, 10:41 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
?Nephrotic syndrome, type 13 #616893

Publications

• PMID: 26878725

Variants in this GENE are reported as part of current diagnostic practice