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Structural eye disease v0.91 | POMGNT2 | Nicola Ragge reviewed gene: POMGNT2: Rating: AMBER; Mode of pathogenicity: ; Publications: 22958903; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Structural eye disease v0.89 | POMGNT2 |
Ivone Leong Source NHS GMS was added to POMGNT2. Publications for gene POMGNT2 were changed from to 22958903 |
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Structural eye disease v0.88 | POMGNT2 |
Ivone Leong Source Expert Review Amber was added to POMGNT2. Rating Changed from Red List (low evidence) to Amber List (moderate evidence) |
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Structural eye disease v0.60 | POMGNT2 | Mariya Moosajee reviewed gene: POMGNT2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Muscular Dystrophy-Dystroglycanopathy, Type A, 8, MDDGA8; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Structural eye disease v0.59 | POMGNT2 |
Ivone Leong gene: POMGNT2 was added gene: POMGNT2 was added to Structural eye disease. Sources: London North GLH Mode of inheritance for gene: POMGNT2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: POMGNT2 were set to Muscular Dystrophy-Dystroglycanopathy, Type A, 8, MDDGA8, 614830 |