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  3. NUP93
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Proteinuria

Gene: NUP93

Green List (high evidence)
NUP93 (nucleoporin 93)
EnsemblGeneIds (GRCh38): ENSG00000102900
EnsemblGeneIds (GRCh37): ENSG00000102900
OMIM: 614351, Gene2Phenotype
NUP93 is in 4 panels

2 reviews

Krithika Murali (Victorian Clinical Genetics Services)

Green List (high evidence)

Biallelic variants associated with steroid resistant nephrotic syndrome in multiple unrelated families.

PMID 30741391 Zanni et al 2019 - report 2 siblings from a non-consanguineous Italian family with compound het variants and congenital ataxia, nystagmus, dysarthria and cerebellar atrophy with normal renal function and work-up. No other reports of this phenotype.
Created: 28 Mar 2022, 6:39 a.m. | Last Modified: 28 Mar 2022, 6:39 a.m.
Panel Version: 0.12183

Phenotypes
Nephrotic syndrome, type 12 - MIM#616892

Publications

Created: 28 Mar 2022, 6:39 a.m.
Last Modified: 28 Mar 2022, 6:39 a.m.
Panel version: Imported from Mendeliome panel version 0.12183

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

7 individuals from six unrelated families reported with bi-allelic variants in this gene.
Sources: Expert list
Created: 20 Dec 2019, 3:05 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Nephrotic syndrome, type 12, MIM#616892

Publications

Created: 20 Dec 2019, 3:05 a.m.

Panel version: 0.39

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Nephrotic syndrome, type 12, MIM#616892
OMIM
614351
Clinvar variants
Variants in NUP93
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: nup93 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: nup93 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: NUP93 was added gene: NUP93 was added to Proteinuria_VCGS_KidGen. Sources: Expert list Mode of inheritance for gene: NUP93 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NUP93 were set to 26878725 Phenotypes for gene: NUP93 were set to Nephrotic syndrome, type 12, MIM#616892 Review for gene: NUP93 was set to GREEN