| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Structural eye disease v0.76 | GALK1 | Nicola Ragge reviewed gene: GALK1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Galactokinase deficiency with cataracts, 230200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.49 | GALK1 | Ivone Leong edited their review of gene: GALK1: Changed phenotypes: Galactokinase deficiency with cataracts, 230200 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.39 | GALK1 | Ivone Leong reviewed gene: GALK1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Galactosemia, 230400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.13 | GALK1 |
Ivone Leong gene: GALK1 was added gene: GALK1 was added to Structural eye disease. Sources: NHS GMS Mode of inheritance for gene: GALK1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GALK1 were set to Galactokinase deficiency with cataracts, 230200 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||