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| Structural eye disease v0.76 | SLC16A12 | Nicola Ragge reviewed gene: SLC16A12: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Cataract, juvenile, with microcornea and glucosuria, 612018; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.49 | SLC16A12 | Ivone Leong edited their review of gene: SLC16A12: Changed phenotypes: Cataract, juvenile, with microcornea and glucosuria, 612018 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.39 | SLC16A12 | Ivone Leong reviewed gene: SLC16A12: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: STOMATIN-DEFICIENT CRYOHYDROCYTOSIS WITH NEUROLOGIC DEFECTS, 608885; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.13 | SLC16A12 |
Ivone Leong gene: SLC16A12 was added gene: SLC16A12 was added to Structural eye disease. Sources: NHS GMS,Expert Review Amber Mode of inheritance for gene: SLC16A12 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: SLC16A12 were set to Cataract, juvenile, with microcornea and glucosuria, 612018 |
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