| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Proteinuria v0.152 | NOS1AP | Zornitza Stark Marked gene: NOS1AP as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Proteinuria v0.152 | NOS1AP | Zornitza Stark Gene: nos1ap has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Proteinuria v0.152 | NOS1AP | Zornitza Stark Classified gene: NOS1AP as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Proteinuria v0.152 | NOS1AP | Zornitza Stark Gene: nos1ap has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Proteinuria v0.151 | NOS1AP |
Zornitza Stark 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 Added comment: 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 |
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