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| Structural eye disease v0.76 | EFTUD2 | Nicola Ragge reviewed gene: EFTUD2: Rating: AMBER; Mode of pathogenicity: ; Publications: 26118977; Phenotypes: Mandibulofacial dysostosis, Guion-Almeida type, 610536; Mode of inheritance: mONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.49 | EFTUD2 | Ivone Leong edited their review of gene: EFTUD2: Changed phenotypes: Mandibulofacial dysostosis, Guion-Almeida type, 610536 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.39 | EFTUD2 | Ivone Leong reviewed gene: EFTUD2: Rating: AMBER; Mode of pathogenicity: ; Publications: 26118977; Phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5; Mode of inheritance: mONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.14 | EFTUD2 | Ivone Leong Mode of inheritance for gene: EFTUD2 was changed from mONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.13 | EFTUD2 |
Ivone Leong gene: EFTUD2 was added gene: EFTUD2 was added to Structural eye disease. Sources: NHS GMS,Expert Review Amber Mode of inheritance for gene: EFTUD2 was set to mONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: EFTUD2 were set to 26118977 Phenotypes for gene: EFTUD2 were set to Mandibulofacial dysostosis, Guion-Almeida type, 610536 |
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