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| Likely inborn error of metabolism - targeted testing not possible v1.47 | PHKA2 |
Ivone Leong Source NHS GMS was added to PHKA2. Source London North GLH was added to PHKA2. |
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| Likely inborn error of metabolism - targeted testing not possible v0.4 | PHKA2 |
Ellen McDonagh gene: PHKA2 was added gene: PHKA2 was added to Inborn errors of metabolism. Sources: Expert Review Green 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 27604308 Phenotypes for gene: PHKA2 were set to Glycogen Storage Disease; Glycogen Storage Disorders- Liver; Glycogen storage disease, type IXa2, 306000; Glycogen storage disease, type IXa1, 306000; hepatomegaly and mild hypoglycaemia; Glycogen storage disease type IX Hepatic phosphorylase kinase deficiency (Glycogen storage disorders) |
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