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| Glycogen storage disease v0.3 | PHKA1 | Emma Ashton reviewed gene: PHKA1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Glycogen storage disease v0.3 | PHKA1 | Carol Hardy reviewed gene: PHKA1: Rating: GREEN; Mode of pathogenicity: ; Publications: 21634085; Phenotypes: Muscle glycogenosis 300559; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Glycogen storage disease v0.2 | PHKA1 |
Ivone Leong gene: PHKA1 was added gene: PHKA1 was added to Glycogen storage disease. Sources: Expert Review Green,London North GLH,Wessex and West Midlands GLH,NHS GMS Mode of inheritance for gene: PHKA1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: PHKA1 were set to 21634085 Phenotypes for gene: PHKA1 were set to Muscle glycogenosis 300559 |
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