| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Albinism or congenital nystagmus v0.14 | PAX6 |
Ivone Leong Added phenotypes Optic nerve hypoplasia 165550 AD; Aniridia 106210 AD; ?Morning glory disc anomaly 120430 AD; Cataract with late-onset corneal dystrophy 106210 AD; Keratitis 148190 AD; Anterior segment dysgenesis 5, multiple subtypes 604229; ?Coloboma of optic nerve 120430 AD; Foveal hypoplasia 1 136520 AD; ?Coloboma, ocular 120200 AD for gene: PAX6 Rating Changed from Green List (high evidence) to Green List (high evidence) |
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| Albinism or congenital nystagmus v0.13 | PAX6 | Jay Self reviewed gene: PAX6: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Albinism or congenital nystagmus v0.10 | PAX6 | Ivone Leong Classified gene: PAX6 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Albinism or congenital nystagmus v0.10 | PAX6 | Ivone Leong Gene: pax6 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Albinism or congenital nystagmus v0.5 | PAX6 | Ivone Leong reviewed gene: PAX6: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ?Coloboma of optic nerve 120430 AD, ?Coloboma, ocular 120200 AD, ?Morning glory disc anomaly 120430 AD, Aniridia 106210 AD, Anterior segment dysgenesis 5, multiple subtypes 604229, Cataract with late-onset corneal dystrophy 106210 AD, Foveal hypoplasia 1 136520 AD, Keratitis 148190 AD, Optic nerve hypoplasia 165550 AD; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Albinism or congenital nystagmus v0.4 | PAX6 |
Ivone Leong gene: PAX6 was added gene: PAX6 was added to Albinism or congenital nystagmus. Sources: Expert list Mode of inheritance for gene: PAX6 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: PAX6 were set to Optic nerve hypoplasia 165550 AD; Aniridia 106210 AD; ?Morning glory disc anomaly 120430 AD; Cataract with late-onset corneal dystrophy 106210 AD; Keratitis 148190 AD; Anterior segment dysgenesis 5, multiple subtypes 604229; ?Coloboma of optic nerve 120430 AD; Foveal hypoplasia 1 136520 AD; ?Coloboma, ocular 120200 AD |
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