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Proteinuria v0.160 DAAM2 Zornitza Stark Phenotypes for gene: DAAM2 were changed from steroid-resistant nephrotic syndrome (SRNS) to Nephrotic syndrome, type 24, MIM# 619263; steroid-resistant nephrotic syndrome (SRNS)
Proteinuria v0.159 DAAM2 Zornitza Stark reviewed gene: DAAM2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Nephrotic syndrome, type 24, MIM# 619263; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Proteinuria v0.149 DAAM2 Zornitza Stark Marked gene: DAAM2 as ready
Proteinuria v0.149 DAAM2 Zornitza Stark Gene: daam2 has been classified as Green List (High Evidence).
Proteinuria v0.149 DAAM2 Zornitza Stark Marked gene: DAAM2 as ready
Proteinuria v0.149 DAAM2 Zornitza Stark Gene: daam2 has been classified as Green List (High Evidence).
Proteinuria v0.149 DAAM2 Zornitza Stark Classified gene: DAAM2 as Green List (high evidence)
Proteinuria v0.149 DAAM2 Zornitza Stark Gene: daam2 has been classified as Green List (High Evidence).
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