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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