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Structural eye disease v0.76 | ITPA | Nicola Ragge reviewed gene: ITPA: Rating: RED; Mode of pathogenicity: ; Publications: 26224535; Phenotypes: Warburg Micro syndrome and Martsolf syndrome with variable cardiac manifestation, None; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Structural eye disease v0.49 | ITPA | Ivone Leong edited their review of gene: ITPA: Changed phenotypes: Warburg Micro syndrome and Martsolf syndrome with variable cardiac manifestation, None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Structural eye disease v0.39 | ITPA | Ivone Leong reviewed gene: ITPA: Rating: RED; Mode of pathogenicity: ; Publications: 26224535; Phenotypes: Gillespie syndrome, 206700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Structural eye disease v0.13 | ITPA |
Ivone Leong gene: ITPA was added gene: ITPA was added to Structural eye disease. Sources: NHS GMS Mode of inheritance for gene: ITPA was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ITPA were set to 26224535 Phenotypes for gene: ITPA were set to Warburg Micro syndrome and Martsolf syndrome with variable cardiac manifestation; None |