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| Proteinuria v0.194 | P3H2 | Zornitza Stark Marked gene: P3H2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Proteinuria v0.194 | P3H2 | Zornitza Stark Gene: p3h2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Proteinuria v0.194 | P3H2 | Zornitza Stark Classified gene: P3H2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Proteinuria v0.194 | P3H2 | Zornitza Stark Gene: p3h2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Proteinuria v0.193 | P3H2 |
Daniel Flanagan gene: P3H2 was added gene: P3H2 was added to Proteinuria. Sources: Expert list Mode of inheritance for gene: P3H2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: P3H2 were set to 35499085 Phenotypes for gene: P3H2 were set to Myopia, high, with cataract and vitreoretinal degeneration (MIM# 614292); Proteinuria, P3H2-related MONDO:0003634 Review for gene: P3H2 was set to GREEN Added comment: Candidate gene for albuminuria. Three families reported with homozygous P3H2 variants who have ocular abnormalities and albuminuria. Segregation with microalbuminuria and microhematuria in four affected siblings. Knockout mice initially have a TBMN phenotype that slowly progresses to a FSGS phenotype. Sources: Expert list |
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