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| Structural eye disease v0.76 | TCOF1 | Nicola Ragge reviewed gene: TCOF1: Rating: AMBER; Mode of pathogenicity: ; Publications: 8741923, 10888597; Phenotypes: Treacher Collins syndrome 1 (eyelid coloboma), 154500; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.49 | TCOF1 | Ivone Leong edited their review of gene: TCOF1: Changed phenotypes: Treacher Collins syndrome 1 (eyelid coloboma), 154500 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.39 | TCOF1 | Ivone Leong reviewed gene: TCOF1: Rating: AMBER; Mode of pathogenicity: ; Publications: 8741923, 10888597; Phenotypes: Cataract 36, 613887; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.13 | TCOF1 |
Ivone Leong gene: TCOF1 was added gene: TCOF1 was added to Structural eye disease. Sources: NHS GMS,Expert Review Amber Mode of inheritance for gene: TCOF1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: TCOF1 were set to 10888597; 8741923 Phenotypes for gene: TCOF1 were set to Treacher Collins syndrome 1 (eyelid coloboma), 154500 |
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