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| Glycogen storage disease v0.3 | PHKA2 | Emma Ashton reviewed gene: PHKA2: 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 | PHKA2 | Carol Hardy reviewed gene: PHKA2: Rating: GREEN; Mode of pathogenicity: ; Publications: 21634085; Phenotypes: Glycogen storage disease, type IXa1 306000, Glycogen storage disease, type IXa2 306000 ; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Glycogen storage disease v0.2 | PHKA2 |
Ivone Leong gene: PHKA2 was added gene: PHKA2 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: PHKA2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: PHKA2 were set to 21634085 Phenotypes for gene: PHKA2 were set to Glycogen storage disease, type IXa2 306000; Glycogen storage disease, type IXa1 306000 |
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