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Prepair 1000+

Gene: NUP93

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

1 review

Andrew Coventry (Victorian Clinical Genetics Services)

Green List (high evidence)

Autosomal recessive renal disorder caused by defects in the renal glomerular filter. Affected individuals have onset of progressive renal failure in the first years of life. Renal biopsy typically shows focal segmental glomerulosclerosis
7 children reported from 6 unrelated families in PMID: 26878725 - onset between 1 and 6 years old. End stage renal failure between 1 and 11 years of age. Functional studies included. Animal model present. Further reports since PMID:26878725 available in literature detailing affected individuals, at least 4 additional individuals from 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: 2 Dec 2024, 4:24 a.m. | Last Modified: 2 Dec 2024, 4:24 a.m.
Panel Version: 1.633

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Nephrotic syndrome, type 12 MIM#616892

Publications

Created: 2 Dec 2024, 4:24 a.m.
Last Modified: 2 Dec 2024, 4:24 a.m.
Panel version: 1.633

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Nephrotic syndrome, type 12 MIM#616892
OMIM
614351
Clinvar variants
Variants in NUP93
Penetrance
None
Publications
Panels with this gene

History Filter Activity

12 Dec 2024, 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).

12 Dec 2024, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: NUP93 were changed from Nephrotic syndrome, type 12, 616892 (3), Autosomal recessive to Nephrotic syndrome, type 12 MIM#616892

12 Dec 2024, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: NUP93 were set to

1 Jun 2022, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: NUP93 was added gene: NUP93 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: NUP93 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NUP93 were set to Nephrotic syndrome, type 12, 616892 (3), Autosomal recessive