Activity
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3 actions
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| Glycogen storage disease v0.3 | PHKG2 | Emma Ashton reviewed gene: PHKG2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Glycogen storage disease v0.3 | PHKG2 | Carol Hardy reviewed gene: PHKG2: Rating: GREEN; Mode of pathogenicity: ; Publications: 21634085; Phenotypes: Glycogen storage disease IXc 613027; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Glycogen storage disease v0.2 | PHKG2 |
Ivone Leong gene: PHKG2 was added gene: PHKG2 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: PHKG2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PHKG2 were set to 21634085 Phenotypes for gene: PHKG2 were set to Glycogen storage disease IXc 613027 |
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