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Congenital nystagmus v0.74 | NMNAT1 | Zornitza Stark Marked gene: NMNAT1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Congenital nystagmus v0.74 | NMNAT1 | Zornitza Stark Gene: nmnat1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Congenital nystagmus v0.74 | NMNAT1 | Zornitza Stark Phenotypes for gene: NMNAT1 were changed from to Leber congenital amaurosis 9 MIM#608553; Spondyloepiphyseal dysplasia, sensorineural hearing loss, intellectual developmental disorder, and Leber congenital amaurosis MIM#619260 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Congenital nystagmus v0.73 | NMNAT1 | Zornitza Stark Publications for gene: NMNAT1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Congenital nystagmus v0.72 | NMNAT1 | Zornitza Stark Mode of inheritance for gene: NMNAT1 was changed from to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Congenital nystagmus v0.71 | NMNAT1 | Zornitza Stark reviewed gene: NMNAT1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Congenital nystagmus v0.31 | NMNAT1 | Ain Roesley reviewed gene: NMNAT1: Rating: AMBER; Mode of pathogenicity: None; Publications: 30004997, 33668384, 33308271, 33308271, 32150116, 22842230, 22842231, 22842227, 29184169; Phenotypes: Leber congenital amaurosis 9 MIM#608553, Spondyloepiphyseal dysplasia, sensorineural hearing loss, intellectual developmental disorder, and Leber congenital amaurosis MIM#619260; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Congenital nystagmus v0.4 | NMNAT1 |
Zornitza Stark gene: NMNAT1 was added gene: NMNAT1 was added to Congenital nystagmus. Sources: Expert Review Green,Expert list Mode of inheritance for gene: NMNAT1 was set to |