Proteinuric renal disease
Gene: NUP93
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: NUP93; Suggested initial gene rating: green; Evidence for inclusion: PMID: 26878725; Other comments: Multiple reports of hom/compound het rare AR variants and nephrotic syndrome. No positive cases detected in >600 SRNS referralsCreated: 4 Feb 2019, 10:41 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Nephrotic syndrome, type 12 #616892
Publications
Variants in this GENE are reported as part of current diagnostic practice
Comment on list classification: Good evidenceCreated: 27 May 2016, 12:41 p.m.
Comment on list classification: Gene added by reviewer.Created: 13 May 2016, 2:16 p.m.
Phenotypes for gene: NUP93 were changed from Early-Childhood-Onset Steroid-Resistant Nephrotic Syndrome to Early-Childhood-Onset Steroid-Resistant Nephrotic Syndrome; Nephrotic syndrome, type 12 #616892
Publications for gene: NUP93 were set to Am J Hum Genet. 2015 Oct 1; 97(4):555-66
Source NHS GMS was added to NUP93. Rating Changed from Green List (high evidence) to Green List (high evidence)
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
This gene has been classified as Red List (Low Evidence).
NUP93 was added to Proteinuric renal diseasepanel. Sources: Literature