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Genomic newborn screening: BabyScreen+ v0.1698 GAA Zornitza Stark Tag metabolic tag was added to gene: GAA.
Genomic newborn screening: BabyScreen+ v0.503 GAA Zornitza Stark Marked gene: GAA as ready
Genomic newborn screening: BabyScreen+ v0.503 GAA Zornitza Stark Gene: gaa has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.503 GAA Zornitza Stark Phenotypes for gene: GAA were changed from Glycogen storage disease II, MIM#232300 to Glycogen storage disease II, Pompe disease, MIM# 232300
Genomic newborn screening: BabyScreen+ v0.502 GAA Zornitza Stark Tag treatable tag was added to gene: GAA.
Genomic newborn screening: BabyScreen+ v0.502 GAA Alison Yeung changed review comment from: Well establishes gene-disease association

Onset: Classic infantile form causes cardiomyopathy and severe hypotonia in infancy (<1 year); Late-onset form causes severe weakness and respiratory insufficiency with onset after 12 months; Adult form presents with progressive myopathy

Severity: Infantile form fatal in first year of life if untreated

Treatment: Enzyme replacement therapy with alglucosidase alfa prior to 6 months of age prolongs survival, reduces cardiac size and allows acquisition of motor skills; to: Well establishes gene-disease association

Onset: Classic infantile form causes cardiomyopathy and severe hypotonia in infancy (<1 year); Late-onset form causes severe weakness and respiratory insufficiency with onset after 12 months; Adult form presents with progressive myopathy

Severity: Infantile form fatal in first year of life if untreated

Treatment: Enzyme replacement therapy with alglucosidase alfa prior to 6 months of age prolongs survival, reduces cardiac size and allows acquisition of motor skills

Non-molecular confirmatory test: enzyme activity analysis
Genomic newborn screening: BabyScreen+ v0.502 GAA Alison Yeung reviewed gene: GAA: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Glycogen storage disease II, Pompe disease, MIM# 232300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Genomic newborn screening: BabyScreen+ v0.0 GAA Zornitza Stark gene: GAA was added
gene: GAA was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: GAA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GAA were set to Glycogen storage disease II, MIM#232300