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| Structural eye disease v0.76 | SLC33A1 | Nicola Ragge reviewed gene: SLC33A1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Congenital cataracts, hearing loss, and neurodegeneration, 614482; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.49 | SLC33A1 | Ivone Leong edited their review of gene: SLC33A1: Changed phenotypes: Congenital cataracts, hearing loss, and neurodegeneration, 614482 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.39 | SLC33A1 | Ivone Leong reviewed gene: SLC33A1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Foveal hypoplasia 2, with or without optic nerve misrouting and/or anterior segment dysgenesis, 609218; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.13 | SLC33A1 |
Ivone Leong gene: SLC33A1 was added gene: SLC33A1 was added to Structural eye disease. Sources: NHS GMS Mode of inheritance for gene: SLC33A1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC33A1 were set to Congenital cataracts, hearing loss, and neurodegeneration, 614482 |
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