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| Prepair 1000+ v1.419 | NPHP1 | Zornitza Stark Marked gene: NPHP1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v1.419 | NPHP1 | Zornitza Stark Gene: nphp1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v1.419 | NPHP1 | Zornitza Stark Phenotypes for gene: NPHP1 were changed from Joubert syndrome 4, 609583 (3) to Nephronophthisis 1, juvenile MIM#256100; Joubert syndrome 4 MIM#609583; Senior-Loken syndrome-1 MIM#266900 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v1.390 | NPHP1 | Lucy Spencer reviewed gene: NPHP1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Nephronophthisis 1, juvenile MIM#256100, Joubert syndrome 4 MIM#609583, Senior-Loken syndrome-1 MIM#266900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v1.3 | NPHP1 | Seb Lunke Added phenotypes Joubert syndrome 4, 609583 (3) for gene: NPHP1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.0 | NPHP1 |
Zornitza Stark gene: NPHP1 was added gene: NPHP1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: NPHP1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NPHP1 were set to Joubert syndrome 4, 609583 (3) |
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