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Structural eye disease v1.32 | SEMA3E | Ivone Leong Publications for gene: SEMA3E were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Structural eye disease v1.29 | SEMA3E | Nicola Ragge edited their review of gene: SEMA3E: Added comment: Lalani et al. published case with CHARGE syndrome including iris coloboma with a de novo missense mutation in SEMA3E as well as balanced translocation - not convincing. Liu et al. published a zebrafish knockout with small eyes. ; Changed publications: 15235037, 31464029 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Structural eye disease v0.76 | SEMA3E | Nicola Ragge reviewed gene: SEMA3E: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: CHARGE, 214800; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Structural eye disease v0.49 | SEMA3E | Ivone Leong edited their review of gene: SEMA3E: Changed phenotypes: CHARGE, 214800 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Structural eye disease v0.39 | SEMA3E | Ivone Leong reviewed gene: SEMA3E: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Frank-ter Haar syndrome, 249420; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Structural eye disease v0.13 | SEMA3E |
Ivone Leong gene: SEMA3E was added gene: SEMA3E was added to Structural eye disease. Sources: NHS GMS Mode of inheritance for gene: SEMA3E was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: SEMA3E were set to CHARGE, 214800 |