| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Structural eye disease v0.76 | FADD | Nicola Ragge reviewed gene: FADD: Rating: RED; Mode of pathogenicity: ; Publications: Gregory-Evans et al, 2007 PMID: 17656375 ; Phenotypes: Iris coloboma, retinal coloboma , None; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.49 | FADD | Ivone Leong edited their review of gene: FADD: Changed phenotypes: Iris coloboma, retinal coloboma , None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.39 | FADD | Ivone Leong reviewed gene: FADD: Rating: RED; Mode of pathogenicity: ; Publications: 17656375; Phenotypes: Kenny-Caffey syndrome, type 2, Gracile bone dysplasia, 127000, 602361; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.13 | FADD |
Ivone Leong gene: FADD was added gene: FADD was added to Structural eye disease. Sources: NHS GMS Mode of inheritance for gene: FADD was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: FADD were set to 17656375 Phenotypes for gene: FADD were set to None; Iris coloboma, retinal coloboma |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||