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  2. Renal and urinary tract disorders
  3. NUP107
STRs in panel
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Renal and urinary tract disorders

Gene: NUP107

Green List (high evidence)
NUP107 (nucleoporin 107)
EnsemblGeneIds (GRCh38): ENSG00000111581
EnsemblGeneIds (GRCh37): ENSG00000111581
OMIM: 607617, Gene2Phenotype
NUP107 is in 7 panels

1 review

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

Comment when marking as ready: Associated with phenotype in OMIM and G2P. At least four variants reported
Created: 5 Aug 2016, 8:30 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Nephrotic syndrome, type 11 616730

Publications

Created: 5 Aug 2016, 8:29 a.m.

Panel version: Imported from End-stage renal disease - childhood onset panel version 0.235

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Nephrotic syndrome, type 11 616730
OMIM
607617
Clinvar variants
Variants in NUP107
Penetrance
None
Publications
Panels with this gene

History Filter Activity

30 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Eleanor Williams (Genomics England Curator)

Sarah Leigh: Comment when marking as ready:

30 Jan 2019, Gel status: 4

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Phenotypes for gene: NUP107 were changed from Nephrotic syndrome, type 11 to Nephrotic syndrome, type 11 616730

20 Dec 2018, Gel status: 4

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

gene: NUP107 was added gene: NUP107 was added to Renal and urinary tract disorders. Sources: Expert Review Green Mode of inheritance for gene: NUP107 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NUP107 were set to 26411495 Phenotypes for gene: NUP107 were set to Nephrotic syndrome, type 11