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| 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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| Proteinuria v0.148 | DAAM2 |
Ain Roesley gene: DAAM2 was added gene: DAAM2 was added to Proteinuria. Sources: Literature Mode of inheritance for gene: DAAM2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DAAM2 were set to 33232676 Phenotypes for gene: DAAM2 were set to steroid-resistant nephrotic syndrome (SRNS) Penetrance for gene: DAAM2 were set to unknown Review for gene: DAAM2 was set to GREEN Added comment: - steroid-resistant nephrotic syndrome (SRNS) with focal segmental glomerulosclerosis on histologic analysis of kidney biopsies and foot process effacement shown by electron microscopy (authors have suggested the term nephrotic syndrome type 22 (NPHS22)) - 4 unrelated families, 3 of which were consanguineous - 4 unique missense and 1 stop - in vitro studies done for the missense variants Sources: Literature |
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| Proteinuria v0.148 | NPHS2 | Zornitza Stark Marked gene: NPHS2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Proteinuria v0.148 | NPHS2 | Zornitza Stark Gene: nphs2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Proteinuria v0.148 | NPHS2 | Zornitza Stark Phenotypes for gene: NPHS2 were changed from to Nephrotic syndrome, type 2 (MIM#600995), AR | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Proteinuria v0.147 | NPHS2 | Zornitza Stark Publications for gene: NPHS2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Proteinuria v0.146 | NPHS2 | Zornitza Stark Mode of inheritance for gene: NPHS2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Proteinuria v0.145 | NPHS2 | Zornitza Stark reviewed gene: NPHS2: Rating: GREEN; Mode of pathogenicity: None; Publications: 32467597, 30260545, 24509478; Phenotypes: Nephrotic syndrome, type 2 (MIM#600995), AR; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Proteinuria v0.0 | NPHS2 |
Zornitza Stark gene: NPHS2 was added gene: NPHS2 was added to Nephrotic Syndrome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: NPHS2 was set to Unknown |
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