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| Proteinuric renal disease v4.6 | NOS1AP | Achchuthan Shanmugasundram Classified gene: NOS1AP as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Proteinuric renal disease v4.6 | NOS1AP |
Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Zornitza Stark and reported in PMID:33523862, there are two unrelated individuals with homozygous NOS1AP variants (c.428G>A/ p.Cys143Tyr & c.345-3T-G) and presenting with nephrotic syndrome, type 22 (MIM# 619155). Introduction of patient variant (c.428G>A) has resulted in aberrant glomeruli formation in kidney organoids. In addition, homozygous exon 3-deleted mice recapitulated the human phenotype, exhibiting proteinuria, foot process effacement, and glomerulosclerosis. Hence, there is sufficient evidence available for the promotion of this gene to green rating in the next GMS review. |
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| Proteinuric renal disease v4.6 | NOS1AP | Achchuthan Shanmugasundram Gene: nos1ap has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Proteinuric renal disease v4.5 | NOS1AP | Achchuthan Shanmugasundram Phenotypes for gene: NOS1AP were changed from Nephrotic syndrome, type 22, MIM# 619155 to Nephrotic syndrome, type 22, OMIM:619155 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Proteinuric renal disease v4.4 | NOS1AP | Achchuthan Shanmugasundram Publications for gene: NOS1AP were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Proteinuric renal disease v4.3 | NOS1AP | Achchuthan Shanmugasundram Tag Q1_24_promote_green tag was added to gene: NOS1AP. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Proteinuric renal disease v4.3 | NOS1AP | Achchuthan Shanmugasundram reviewed gene: NOS1AP: Rating: GREEN; Mode of pathogenicity: None; Publications: 33523862; Phenotypes: Nephrotic syndrome, type 22, OMIM:619155; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Proteinuric renal disease v2.44 | NOS1AP |
Zornitza Stark gene: NOS1AP was added gene: NOS1AP was added to Proteinuric renal disease. 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 gene: NOS1AP was marked as current diagnostic 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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