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| Structural eye disease v0.76 | FAM111A | Nicola Ragge reviewed gene: FAM111A: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Kenny-Caffey syndrome, type 2, Gracile bone dysplasia, 127000, 602361; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.49 | FAM111A | Ivone Leong edited their review of gene: FAM111A: Changed phenotypes: Kenny-Caffey syndrome, type 2, Gracile bone dysplasia, 127000, 602361 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.39 | FAM111A | Ivone Leong reviewed gene: FAM111A: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: LEUKODYSTROPHY, HYPOMYELINATING, 5 (includes congenital cataract), 610532; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.13 | FAM111A |
Ivone Leong gene: FAM111A was added gene: FAM111A was added to Structural eye disease. Sources: NHS GMS Mode of inheritance for gene: FAM111A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: FAM111A were set to Gracile bone dysplasia; 127000; 602361; Kenny-Caffey syndrome, type 2 |
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