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| Structural eye disease v0.76 | SLC4A4 | Nicola Ragge reviewed gene: SLC4A4: Rating: GREEN; Mode of pathogenicity: ; Publications: 10545938, 11274232; Phenotypes: Renal tubular acidosis, proximal, with ocular abnormalities, 604278; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.49 | SLC4A4 | Ivone Leong edited their review of gene: SLC4A4: Changed phenotypes: Renal tubular acidosis, proximal, with ocular abnormalities, 604278 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.39 | SLC4A4 | Ivone Leong reviewed gene: SLC4A4: Rating: GREEN; Mode of pathogenicity: ; Publications: 10545938, 11274232; Phenotypes: ARHINIA, CHOANAL ATRESIA, AND MICROPHTHALMIA, 603457; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.13 | SLC4A4 |
Ivone Leong gene: SLC4A4 was added gene: SLC4A4 was added to Structural eye disease. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: SLC4A4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC4A4 were set to 10545938; 11274232 Phenotypes for gene: SLC4A4 were set to Renal tubular acidosis, proximal, with ocular abnormalities, 604278 |
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