1. Panels
  2. Proteinuria
  3. NOS1AP
STRs in panel
Prev Next
Regions in panel
Prev Next

Proteinuria

Gene: NOS1AP

Green List (high evidence)
NOS1AP (nitric oxide synthase 1 adaptor protein)
EnsemblGeneIds (GRCh38): ENSG00000198929
EnsemblGeneIds (GRCh37): ENSG00000198929
OMIM: 605551, Gene2Phenotype
NOS1AP is in 2 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Nephrotic syndrome type 22 (NPHS22) is an autosomal recessive renal disease characterized by onset of progressive kidney dysfunction in infancy. Affected individuals usually present with edema associated with hypoproteinemia, proteinuria, and microscopic hematuria. Renal biopsy shows effacement of the podocyte foot processes, glomerulosclerosis, and thickening of the glomerular basement membrane. The disease is steroid-resistant and progressive, resulting in end-stage renal disease usually necessitating kidney transplant. Two unrelated families and animal model.

No PMID yet: https://advances.sciencemag.org/content/7/1/eabe1386
Sources: Literature
Created: 31 Jan 2021, 6:40 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Nephrotic syndrome, type 22, MIM# 619155

Created: 31 Jan 2021, 6:40 a.m.

Panel version: 0.151

Crystle Lee (Victorian Clinical Genetics Services)

Red List (low evidence)

No evidence of Mendelian gene disease association
Created: 30 Mar 2020, 12:14 a.m. | Last Modified: 30 Mar 2020, 12:14 a.m.
Panel Version: 0.1842
Created: 30 Mar 2020, 12:14 a.m.
Last Modified: 30 Mar 2020, 12:14 a.m.
Panel version: Imported from Mendeliome panel version 0.1842

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Nephrotic syndrome, type 22, MIM# 619155
OMIM
605551
Clinvar variants
Variants in NOS1AP
Penetrance
None
Panels with this gene

History Filter Activity

31 Jan 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: nos1ap has been classified as Green List (High Evidence).

31 Jan 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: nos1ap has been classified as Green List (High Evidence).

31 Jan 2021, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: NOS1AP was added gene: NOS1AP was added to Proteinuria. Sources: Literature Mode of inheritance for gene: NOS1AP was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NOS1AP were set to Nephrotic syndrome, type 22, MIM# 619155 Review for gene: NOS1AP was set to GREEN