Activity

Filter

Cancel
Date Panel Item Activity
5 actions
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
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)
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