| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Structural eye disease v0.76 | EFEMP1 | Nicola Ragge reviewed gene: EFEMP1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Doyne honeycomb degeneration of retina, 126600; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.38 | EFEMP1 | Ivone Leong reviewed gene: EFEMP1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Doyne honeycomb degeneration of retina, 126600; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.15 | EFEMP1 |
Ivone Leong Source NHS GMS was added to EFEMP1. Mode of inheritance for gene EFEMP1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Added phenotypes Doyne honeycomb degeneration of retina, 126600 for gene: EFEMP1 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.2 | EFEMP1 |
Ellen McDonagh gene: EFEMP1 was added gene: EFEMP1 was added to Structural eye disease. Sources: Expert Review Red Mode of inheritance for gene: EFEMP1 was set to Phenotypes for gene: EFEMP1 were set to Eye Disorders |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||