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Structural eye disease v0.76 | TBX22 | Nicola Ragge reviewed gene: TBX22: Rating: RED; Mode of pathogenicity: ; Publications: 22784330; Phenotypes: ?Abruzzo-Erickson syndrome, 302905; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Structural eye disease v0.49 | TBX22 | Ivone Leong edited their review of gene: TBX22: Changed phenotypes: ?Abruzzo-Erickson syndrome, 302905 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Structural eye disease v0.39 | TBX22 | Ivone Leong reviewed gene: TBX22: Rating: RED; Mode of pathogenicity: ; Publications: 22784330; Phenotypes: Treacher Collins syndrome 1 (eyelid coloboma), 154500; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Structural eye disease v0.13 | TBX22 |
Ivone Leong gene: TBX22 was added gene: TBX22 was added to Structural eye disease. Sources: NHS GMS Mode of inheritance for gene: TBX22 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: TBX22 were set to 22784330 Phenotypes for gene: TBX22 were set to ?Abruzzo-Erickson syndrome, 302905 |