| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Structural eye disease v0.76 | PEX13 | Nicola Ragge reviewed gene: PEX13: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Peroxisome biogenesis disorder 11B, 614885; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.49 | PEX13 | Ivone Leong edited their review of gene: PEX13: Changed phenotypes: Peroxisome biogenesis disorder 11B, 614885 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.39 | PEX13 | Ivone Leong reviewed gene: PEX13: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Peroxisome biogenesis disorder 13A (Zellweger), 614887; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.13 | PEX13 |
Ivone Leong gene: PEX13 was added gene: PEX13 was added to Structural eye disease. Sources: NHS GMS Mode of inheritance for gene: PEX13 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PEX13 were set to Peroxisome biogenesis disorder 11B, 614885 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||