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Groopman et al 2019 - Genes with diagnostic variants v0.4 | NPHP4 | Eleanor Williams reviewed gene: NPHP4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Groopman et al 2019 - Genes with diagnostic variants v0.3 | NPHP4 |
Eleanor Williams Source Expert Review Green was added to NPHP4. Rating Changed from Red List (low evidence) to Green List (high evidence) |
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Groopman et al 2019 - Genes with diagnostic variants v0.2 | NPHP4 |
Eleanor Williams gene: NPHP4 was added gene: NPHP4 was added to Groopman et al 2019 - Genes with diagnostic variants. Sources: Literature,Expert review green Mode of inheritance for gene: NPHP4 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NPHP4 were set to Nephropathy of unknown origin; MIM 606966; Nephronophthisis 4 |