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Genomic newborn screening: BabyScreen+ v0.1488 SPTA1 Seb Lunke Marked gene: SPTA1 as ready
Genomic newborn screening: BabyScreen+ v0.1488 SPTA1 Seb Lunke Gene: spta1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1488 SPTA1 Seb Lunke Phenotypes for gene: SPTA1 were changed from Elliptocytosis to Elliptocytosis-2 MIM# 130600; Pyropoikilocytosis MIM# 266140; Spherocytosis, type 3 MIM# 270970
Genomic newborn screening: BabyScreen+ v0.1487 SPTA1 Seb Lunke Mode of inheritance for gene: SPTA1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1486 SPTA1 Seb Lunke Classified gene: SPTA1 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.1486 SPTA1 Seb Lunke Gene: spta1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1485 SPTA1 Seb Lunke reviewed gene: SPTA1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Elliptocytosis-2 MIM# 130600, Pyropoikilocytosis MIM# 266140, Spherocytosis, type 3 MIM# 270970; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.0 SPTA1 Zornitza Stark gene: SPTA1 was added
gene: SPTA1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: SPTA1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SPTA1 were set to Elliptocytosis