| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Structural eye disease v0.76 | PEX7 | Nicola Ragge reviewed gene: PEX7: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Rhizomelic chondrodysplasia punctata, type 1, Peroxisome biogenesis disorder 9B, 215100, 614879; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.48 | PEX7 | Ivone Leong edited their review of gene: PEX7: Changed phenotypes: Rhizomelic chondrodysplasia punctata, type 1, 215100, Peroxisome biogenesis disorder 9B, 614879 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.38 | PEX7 | Ivone Leong reviewed gene: PEX7: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Refsum disease, 266500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.15 | PEX7 |
Ivone Leong Source NHS GMS was added to PEX7. Mode of inheritance for gene PEX7 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Peroxisome biogenesis disorder 9B, 614879; Rhizomelic chondrodysplasia punctata, type 1, 215100 for gene: PEX7 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.2 | PEX7 |
Ellen McDonagh gene: PEX7 was added gene: PEX7 was added to Structural eye disease. Sources: Expert Review Red Mode of inheritance for gene: PEX7 was set to Phenotypes for gene: PEX7 were set to Eye Disorders |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||