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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 |