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| Groopman et al 2019 - Genes with diagnostic variants v0.4 | NPHS1 | Eleanor Williams reviewed gene: NPHS1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Groopman et al 2019 - Genes with diagnostic variants v0.3 | NPHS1 |
Eleanor Williams Source Expert Review Amber was added to NPHS1. Rating Changed from Red List (low evidence) to Amber List (moderate evidence) |
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| Groopman et al 2019 - Genes with diagnostic variants v0.2 | NPHS1 |
Eleanor Williams gene: NPHS1 was added gene: NPHS1 was added to Groopman et al 2019 - Genes with diagnostic variants. Sources: Literature,Exper review amber Mode of inheritance for gene: NPHS1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NPHS1 were set to MIM 256300; Nephrotic syndrome type 1; Glomerulopathy |
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