| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Structural eye disease v1.47 | B3GALT1 | Arina Puzriakova Tag curated_removed tag was added to gene: B3GALT1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.76 | GALT | Nicola Ragge reviewed gene: GALT: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Galactosemia, 230400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.49 | GALT | Ivone Leong edited their review of gene: GALT: Changed phenotypes: Galactosemia, 230400 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.39 | GALT | Ivone Leong reviewed gene: GALT: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Cataract 13 with adult i phenotype, 116700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.13 | GALT |
Ivone Leong gene: GALT was added gene: GALT was added to Structural eye disease. Sources: NHS GMS Mode of inheritance for gene: GALT was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GALT were set to Galactosemia, 230400 |
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| Structural eye disease v0.12 | B3GALT1 | Ivone Leong Classified gene: B3GALT1 as No list | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.12 | B3GALT1 | Ivone Leong Gene: b3galt1 has been removed from the panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.2 | B3GALT1 |
Ellen McDonagh gene: B3GALT1 was added gene: B3GALT1 was added to Structural eye disease. Sources: Expert Review Green Mode of inheritance for gene: B3GALT1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: B3GALT1 were set to 16909395 Phenotypes for gene: B3GALT1 were set to Peters-plus syndrome, 261540 |
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