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Genomic newborn screening: BabyScreen+ v0.557 CACNA1A Zornitza Stark Marked gene: CACNA1A as ready
Genomic newborn screening: BabyScreen+ v0.557 CACNA1A Zornitza Stark Gene: cacna1a has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.557 CACNA1A Zornitza Stark Phenotypes for gene: CACNA1A were changed from Episodic ataxia, type 2 to Episodic ataxia, type 2, MIM# 108500
Genomic newborn screening: BabyScreen+ v0.556 CACNA1A Zornitza Stark Classified gene: CACNA1A as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.556 CACNA1A Zornitza Stark Gene: cacna1a has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.555 CACNA1A Zornitza Stark reviewed gene: CACNA1A: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Episodic ataxia, type 2, MIM# 108500; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.0 CACNA1A Zornitza Stark gene: CACNA1A was added
gene: CACNA1A was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: CACNA1A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: CACNA1A were set to Episodic ataxia, type 2