| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| BabyScreen+ newborn screening v0.1612 | PYGL | John Christodoulou edited their review of gene: PYGL: Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.1612 | PYGL | John Christodoulou edited their review of gene: PYGL: Changed publications: PMID: 30659246, PMID: 35725468, PMID: 20301760; Changed phenotypes: hepatomegaly, hypoglycaemia, cardiomyopathy, short stature | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.1610 | PYGL |
John Christodoulou commented on gene: PYGL: Generally a mild disorder - presenting in early childhood with hepatomegaly due to glycogen storage some at risk of hypoglycaemia; some may develop muscle cramps or cardiomyopathy risk of hepatic adenomas - ultrasound surveillance recommended from 5 yrs treatment cornstarch and high protein diet - growth improves and hypoglycaemia is no longer problem |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.1610 | PYGL | John Christodoulou reviewed gene: PYGL: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: hepatomegaly, hypoglycaemia, cardiomyo; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.1491 | PYGL | Zornitza Stark Marked gene: PYGL as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.1491 | PYGL | Zornitza Stark Gene: pygl has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.1491 | PYGL | Zornitza Stark Phenotypes for gene: PYGL were changed from Glycogen storage disease VI to Glycogen storage disease VI, MIM# 232700 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.1490 | PYGL |
Zornitza Stark Tag treatable tag was added to gene: PYGL. Tag metabolic tag was added to gene: PYGL. |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.1490 | PYGL | Zornitza Stark reviewed gene: PYGL: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Glycogen storage disease VI, MIM# 232700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.0 | PYGL |
Zornitza Stark gene: PYGL was added gene: PYGL was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: PYGL was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PYGL were set to Glycogen storage disease VI |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||