| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| BabyScreen+ newborn screening v1.114 | PHKA2 | Tommy Li Added phenotypes Glycogen storage disease, type IXa1 and a2, MIM# 306000 for gene: PHKA2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.1710 | PHKA2 |
Zornitza Stark Tag treatable tag was added to gene: PHKA2. Tag metabolic tag was added to gene: PHKA2. |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.772 | PHKA2 | Zornitza Stark Marked gene: PHKA2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.772 | PHKA2 | Zornitza Stark Gene: phka2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.772 | PHKA2 | Zornitza Stark Publications for gene: PHKA2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.771 | PHKA2 | Zornitza Stark Phenotypes for gene: PHKA2 were changed from Phosphorylase kinase deficiency to Glycogen storage disease, type IXa1 and a2, MIM# 306000 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.719 | PHKA2 | John Christodoulou reviewed gene: PHKA2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 30659246; Phenotypes: hepatomegaly, short stature, liver dysfunction, hypoglycaemia, hyperuricaemia, hyperlipidemia, fasting ketosis, mild motor delay; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.0 | PHKA2 |
Zornitza Stark gene: PHKA2 was added gene: PHKA2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: PHKA2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: PHKA2 were set to Phosphorylase kinase deficiency |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||