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Genomic newborn screening: BabyScreen+ v0.116 APTX Zornitza Stark Marked gene: APTX as ready
Genomic newborn screening: BabyScreen+ v0.116 APTX Zornitza Stark Gene: aptx has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.116 APTX Zornitza Stark Phenotypes for gene: APTX were changed from Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia to Ataxia, early-onset, with oculomotor apraxia and hypoalbuminaemia MIM#208920
Genomic newborn screening: BabyScreen+ v0.115 APTX Zornitza Stark Publications for gene: APTX were set to
Genomic newborn screening: BabyScreen+ v0.114 APTX Zornitza Stark Classified gene: APTX as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.114 APTX Zornitza Stark Gene: aptx has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.113 APTX Zornitza Stark reviewed gene: APTX: Rating: RED; Mode of pathogenicity: None; Publications: 30986824, 26256098, 11586299; Phenotypes: Ataxia, early-onset, with oculomotor apraxia and hypoalbuminaemia MIM#208920; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.0 APTX Zornitza Stark gene: APTX was added
gene: APTX was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: APTX was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: APTX were set to Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia