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Structural eye disease v0.76 | B3GLCT | Nicola Ragge reviewed gene: B3GLCT: Rating: GREEN; Mode of pathogenicity: ; Publications: 16909395; Phenotypes: Peters-plus syndrome, 261540; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Structural eye disease v0.38 | B3GLCT | Ivone Leong reviewed gene: B3GLCT: Rating: GREEN; Mode of pathogenicity: ; Publications: 16909395, 18798333, 19796186; Phenotypes: Peters-plus syndrome 261540; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Structural eye disease v0.15 | B3GLCT |
Ivone Leong Source NHS GMS was added to B3GLCT. Source Expert Review Green was added to B3GLCT. Mode of inheritance for gene B3GLCT was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Peters-plus syndrome 261540 for gene: B3GLCT Publications for gene B3GLCT were changed from to 19796186; 16909395; 18798333 Rating Changed from Red List (low evidence) to Green List (high evidence) |
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Structural eye disease v0.12 | B3GALT1 | Ivone Leong Added comment: Comment on list classification: Demoted to grey gene status as this gene is not relevant and should have been B3GLCT instead. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Structural eye disease v0.2 | B3GLCT |
Ellen McDonagh gene: B3GLCT was added gene: B3GLCT was added to Structural eye disease. Sources: Expert Review Red Mode of inheritance for gene: B3GLCT was set to Phenotypes for gene: B3GLCT were set to Eye Disorders |