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Glycogen Storage Diseases v0.49 PHKA2 Daniel Flanagan reviewed gene: PHKA2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 10330341; Phenotypes: Glycogen storage disease, type IXa1, Glycogen storage disease, type IXa2; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Glycogen Storage Diseases v0.0 PHKA2 Zornitza Stark gene: PHKA2 was added
gene: PHKA2 was added to Glycogen Storage Diseases_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: PHKA2 was set to Unknown