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Congenital Disorders of Glycosylation v0.36 PMM2 Zornitza Stark Marked gene: PMM2 as ready
Congenital Disorders of Glycosylation v0.36 PMM2 Zornitza Stark Gene: pmm2 has been classified as Green List (High Evidence).
Congenital Disorders of Glycosylation v0.36 PMM2 Zornitza Stark Phenotypes for gene: PMM2 were changed from to Congenital disorder of glycosylation, type Ia 212065
Congenital Disorders of Glycosylation v0.35 PMM2 Zornitza Stark Publications for gene: PMM2 were set to
Congenital Disorders of Glycosylation v0.34 PMM2 Zornitza Stark Mode of inheritance for gene: PMM2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.33 PMM2 Melanie Marty reviewed gene: PMM2: Rating: GREEN; Mode of pathogenicity: None; Publications: 21541725; Phenotypes: Congenital disorder of glycosylation, type Ia 212065; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Congenital Disorders of Glycosylation v0.0 PMM2 Zornitza Stark gene: PMM2 was added
gene: PMM2 was added to Congenital Disorders of Glycosylation_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: PMM2 was set to Unknown