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  3. NUP133
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Proteinuria

Gene: NUP133

Green List (high evidence)
NUP133 (nucleoporin 133)
EnsemblGeneIds (GRCh38): ENSG00000069248
EnsemblGeneIds (GRCh37): ENSG00000069248
OMIM: 607613, Gene2Phenotype
NUP133 is in 2 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Two unrelated families with functional data.
Sources: Literature
Created: 20 Dec 2019, 4:27 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Nephrotic syndrome, type 18, MIM#618177

Publications

Created: 20 Dec 2019, 4:27 a.m.

Panel version: 0.51

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Nephrotic syndrome, type 18, MIM#618177
OMIM
607613
Clinvar variants
Variants in NUP133
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 Dec 2019, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: nup133 has been classified as Green List (High Evidence).

20 Dec 2019, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: nup133 has been classified as Green List (High Evidence).

20 Dec 2019, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: NUP133 was added gene: NUP133 was added to Proteinuria_VCGS_KidGen. Sources: Literature Mode of inheritance for gene: NUP133 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NUP133 were set to 30179222 Phenotypes for gene: NUP133 were set to Nephrotic syndrome, type 18, MIM#618177 Review for gene: NUP133 was set to GREEN