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| Structural eye disease v0.91 | POMGNT1 | Nicola Ragge reviewed gene: POMGNT1: Rating: GREEN; Mode of pathogenicity: ; Publications: 19679478, 19452620, 28765568, 11709191, 0961548; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.89 | POMGNT1 |
Ivone Leong Source Expert Review Green was added to POMGNT1. Source NHS GMS was added to POMGNT1. Publications for gene POMGNT1 were changed from to 0961548; 19452620; 28765568; 11709191; 19679478 Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Structural eye disease v0.88 | POMGNT1 |
Ivone Leong Source Expert Review Amber was added to POMGNT1. Rating Changed from Red List (low evidence) to Amber List (moderate evidence) |
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| Structural eye disease v0.60 | POMGNT1 | Mariya Moosajee reviewed gene: POMGNT1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Muscular Dystrophy-Dystroglycanopathy, Type A, 3, MDDGA3; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.59 | POMGNT1 |
Ivone Leong gene: POMGNT1 was added gene: POMGNT1 was added to Structural eye disease. Sources: London North GLH Mode of inheritance for gene: POMGNT1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: POMGNT1 were set to Muscular Dystrophy-Dystroglycanopathy, Type A, 3, MDDGA3, 253280 |
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