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| Joubert syndrome and other neurological ciliopathies v0.129 | NPHP1 | Zornitza Stark Marked gene: NPHP1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Joubert syndrome and other neurological ciliopathies v0.129 | NPHP1 | Zornitza Stark Gene: nphp1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Joubert syndrome and other neurological ciliopathies v0.129 | NPHP1 | Zornitza Stark Phenotypes for gene: NPHP1 were changed from to Joubert syndrome 4, MIM# 609583 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Joubert syndrome and other neurological ciliopathies v0.128 | NPHP1 | Zornitza Stark Publications for gene: NPHP1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Joubert syndrome and other neurological ciliopathies v0.127 | NPHP1 | Zornitza Stark Mode of inheritance for gene: NPHP1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Joubert syndrome and other neurological ciliopathies v0.126 | NPHP1 | Zornitza Stark reviewed gene: NPHP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 15138899, 32139166, 28347285; Phenotypes: Joubert syndrome 4, MIM# 609583; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Joubert syndrome and other neurological ciliopathies v0.0 | NPHP1 |
Zornitza Stark gene: NPHP1 was added gene: NPHP1 was added to Joubert syndrome and other cerebellar malformations_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: NPHP1 was set to Unknown |
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