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Congenital Disorders of Glycosylation v0.303 POMGNT2 Zornitza Stark Marked gene: POMGNT2 as ready
Congenital Disorders of Glycosylation v0.303 POMGNT2 Zornitza Stark Gene: pomgnt2 has been classified as Green List (High Evidence).
Congenital Disorders of Glycosylation v0.303 POMGNT2 Zornitza Stark Phenotypes for gene: POMGNT2 were changed from to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 8 614830; Muscular dystrophy-dystroglycanopathy (limb-girdle) type C, 8 618135
Congenital Disorders of Glycosylation v0.302 POMGNT2 Zornitza Stark Mode of inheritance for gene: POMGNT2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.301 POMGNT2 Zornitza Stark reviewed gene: POMGNT2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 8 614830, Muscular dystrophy-dystroglycanopathy (limb-girdle) type C, 8 618135; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.0 POMGNT2 Zornitza Stark gene: POMGNT2 was added
gene: POMGNT2 was added to Congenital Disorders of Glycosylation_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: POMGNT2 was set to Unknown