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| Structural eye disease v0.76 | KAT6B | Nicola Ragge reviewed gene: KAT6B: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: SBBYSS syndrome (blepharophimosis), 603736; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.49 | KAT6B | Ivone Leong edited their review of gene: KAT6B: Changed phenotypes: SBBYSS syndrome (blepharophimosis), 603736 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.39 | KAT6B | Ivone Leong reviewed gene: KAT6B: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Cornea plana congenita, recessive, 217300; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.13 | KAT6B |
Ivone Leong gene: KAT6B was added gene: KAT6B was added to Structural eye disease. Sources: NHS GMS Mode of inheritance for gene: KAT6B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: KAT6B were set to SBBYSS syndrome (blepharophimosis), 603736 |
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