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Mendeliome v0.13636 | RPE65 | Zornitza Stark Marked gene: RPE65 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.13636 | RPE65 | Zornitza Stark Gene: rpe65 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.13636 | RPE65 | Zornitza Stark Phenotypes for gene: RPE65 were changed from to Leber congenital amaurosis 2 MIM#204100; Retinitis pigmentosa 20 MIM#613794; Retinitis pigmentosa 87 with choroidal involvement MIM#618697 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.13635 | RPE65 | Zornitza Stark Publications for gene: RPE65 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.13634 | RPE65 | Zornitza Stark Mode of inheritance for gene: RPE65 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.13616 | RPE65 | Belinda Chong reviewed gene: RPE65: Rating: GREEN; Mode of pathogenicity: None; Publications: 14962443, 12960219, 11786058, 21654732, 27307694, 9501220, 16754667, 15557452; Phenotypes: Leber congenital amaurosis 2 MIM#204100, Retinitis pigmentosa 20 MIM#613794, Retinitis pigmentosa 87 with choroidal involvement MIM#618697; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.0 | RPE65 |
Zornitza Stark gene: RPE65 was added gene: RPE65 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: RPE65 was set to Unknown |