Proteinuric renal disease
Gene: NUP205
NUP205 (nucleoporin 205)
EnsemblGeneIds (GRCh38): ENSG00000155561
EnsemblGeneIds (GRCh37): ENSG00000155561
OMIM: 614352, Gene2Phenotype
NUP205 is in 1 panel
EnsemblGeneIds (GRCh38): ENSG00000155561
EnsemblGeneIds (GRCh37): ENSG00000155561
OMIM: 614352, Gene2Phenotype
NUP205 is in 1 panel
1 review
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: 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
Details
- Sources
-
- NHS GMS
- Phenotypes
-
- ?Nephrotic syndrome, type 13 #616893
- OMIM
- 614352
- Clinvar variants
- Variants in NUP205
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
23 Jun 2019, Gel status: 1
Set Phenotypes
Eleanor Williams (Genomics England Curator)Phenotypes for gene: NUP205 were changed from to ?Nephrotic syndrome, type 13 #616893
23 Jun 2019, Gel status: 1
Set publications
Eleanor Williams (Genomics England Curator)Publications for gene: NUP205 were set to
4 Feb 2019, Gel status: 1
Created, Added New Source, Set mode of inheritance
Eleanor Williams (Genomics England Curator)gene: NUP205 was added gene: NUP205 was added to Proteinuric renal disease. Sources: NHS GMS Mode of inheritance for gene: NUP205 was set to