Panel | Mode of inheritance | Details |
---|---|---|
2 panels | ||
Green in Glycogen storage diseaseR-numbers: R274 Signed-off version 2.0 | X-LINKED: hemizygous mutation in males, biallelic mutations in females | Phenotypes Glycogen storage disease, type IXa2 306000, Glycogen storage disease, type IXa1 306000 |
Green in Likely inborn error of metabolismComponent of the following Super Panels:
R-numbers: R98 Signed-off version 6.0 | X-LINKED: hemizygous mutation in males, biallelic mutations in females | Phenotypes 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) |