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Severe Paediatric Disorders v0.12 | POMGNT2 | Louise Daugherty reviewed gene: POMGNT2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.11 | POMGNT2 | Louise Daugherty Publications for gene POMGNT2 were updated from to 30847515 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.11 | POMGNT2 | Louise Daugherty Mode of inheritance for gene POMGNT2 was changed from to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.10 | POMGNT2 | Louise Daugherty Added phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 8, 614830; Muscular dystrophy-dystroglycanopathy (limb-girdle) type C, 8, 618135 for gene: POMGNT2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.9 | POMGNT2 | Louise Daugherty Added phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 8, 614830; Muscular dystrophy-dystroglycanopathy (limb-girdle) type C, 8, 618135 for gene: POMGNT2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.9 | POMGNT2 | Louise Daugherty Added phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 8, 614830; Muscular dystrophy-dystroglycanopathy (limb-girdle) type C, 8, 618135 for gene: POMGNT2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.8 | POMGNT2 | Louise Daugherty Added phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 8, 614830; Muscular dystrophy-dystroglycanopathy (limb-girdle) type C, 8, 618135 for gene: POMGNT2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.7 | POMGNT2 | Louise Daugherty Source Next Generation Children Project was added to POMGNT2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.5 | POMGNT2 |
Louise Daugherty Source Expert Review Green was added to POMGNT2. Rating Changed from Red List (low evidence) to Green List (high evidence) |
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Severe Paediatric Disorders v0.4 | POMGNT2 |
Louise Daugherty gene: POMGNT2 was added gene: POMGNT2 was added to Severe Paediatric Disorders. Sources: Expert list Mode of inheritance for gene: POMGNT2 was set to |