| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Likely inborn error of metabolism - targeted testing not possible v1.47 | GYS2 |
Ivone Leong Source NHS GMS was added to GYS2. Source London North GLH was added to GYS2. |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v0.4 | GYS2 |
Ellen McDonagh gene: GYS2 was added gene: GYS2 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: GYS2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GYS2 were set to 27604308 Phenotypes for gene: GYS2 were set to Glycogen Storage Disease; Glycogen Storage Disease Type 0, Liver; Glycogen Storage Disorders- Liver; Glycogen storage disease type 0a, liver (Glycogen storage disorders); Glycogen storage disease, type 0, 240600; fasting intolerance without enlarged liver |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||