Proteinuric renal disease
Gene: NUP93EnsemblGeneIds (GRCh38): ENSG00000102900
EnsemblGeneIds (GRCh37): ENSG00000102900
OMIM: 614351, Gene2Phenotype
NUP93 is in 2 panels
3 reviews
Eleanor Williams (Genomics England Curator)
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
- PMID: 26878725
Variants in this GENE are reported as part of current diagnostic practice
Ellen Thomas (Genomics England Curator)
Comment on list classification: Good evidenceCreated: 27 May 2016, 12:41 p.m.
Ellen McDonagh (Genomics England Curator)
Comment on list classification: Gene added by reviewer.Created: 13 May 2016, 2:16 p.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- Expert Review Green
- Phenotypes
-
- Early-Childhood-Onset Steroid-Resistant Nephrotic Syndrome
- Nephrotic syndrome, type 12 #616892
- OMIM
- 614351
- Clinvar variants
- Variants in NUP93
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
Set Phenotypes
Eleanor Williams (Genomics England Curator)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
Set publications
Eleanor Williams (Genomics England Curator)Publications for gene: NUP93 were set to Am J Hum Genet. 2015 Oct 1; 97(4):555-66
Added New Source, Status Update
Eleanor Williams (Genomics England Curator)Source NHS GMS was added to NUP93. Rating Changed from Green List (high evidence) to Green List (high evidence)
Gene classified by Genomics England curator
Ellen Thomas (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Ellen Thomas (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
Added New Source
Maggie Williams (North Bristol NHS Trust)NUP93 was added to Proteinuric renal diseasepanel. Sources: Literature