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Glycogen Storage Diseases v0.75 PHKA1 Zornitza Stark Marked gene: PHKA1 as ready
Glycogen Storage Diseases v0.75 PHKA1 Zornitza Stark Gene: phka1 has been classified as Green List (High Evidence).
Glycogen Storage Diseases v0.75 PHKA1 Zornitza Stark Phenotypes for gene: PHKA1 were changed from to Muscle glycogenosis, MIM# 300559
Glycogen Storage Diseases v0.74 PHKA1 Zornitza Stark Publications for gene: PHKA1 were set to
Glycogen Storage Diseases v0.73 PHKA1 Zornitza Stark Mode of inheritance for gene: PHKA1 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Glycogen Storage Diseases v0.72 PHKA1 Zornitza Stark reviewed gene: PHKA1: Rating: GREEN; Mode of pathogenicity: None; Publications: 7874115, 12825073, 9731190; Phenotypes: Muscle glycogenosis, MIM# 300559; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Glycogen Storage Diseases v0.0 PHKA1 Zornitza Stark gene: PHKA1 was added
gene: PHKA1 was added to Glycogen Storage Diseases_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: PHKA1 was set to Unknown