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BabyScreen+ newborn screening v0.1706 HK1 Zornitza Stark Tag treatable tag was added to gene: HK1.
Tag endocrine tag was added to gene: HK1.
BabyScreen+ newborn screening v0.1230 HK1 Zornitza Stark Marked gene: HK1 as ready
BabyScreen+ newborn screening v0.1230 HK1 Zornitza Stark Gene: hk1 has been classified as Green List (High Evidence).
BabyScreen+ newborn screening v0.1230 HK1 Zornitza Stark Phenotypes for gene: HK1 were changed from Hemolytic anemia due to hexokinase deficiency; Haemolytic anaemia due to hexokinase deficiency , MIM#235700 to Hyperinsulinism MONDO:0002177, HK1-related
BabyScreen+ newborn screening v0.1229 HK1 Zornitza Stark Mode of inheritance for gene: HK1 was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
BabyScreen+ newborn screening v0.1228 HK1 Zornitza Stark Classified gene: HK1 as Green List (high evidence)
BabyScreen+ newborn screening v0.1228 HK1 Zornitza Stark Gene: hk1 has been classified as Green List (High Evidence).
BabyScreen+ newborn screening v0.1227 HK1 Zornitza Stark reviewed gene: HK1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Hyperinsulinism MONDO:0002177, HK1-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
BabyScreen+ newborn screening v0.0 HK1 Zornitza Stark Source Expert Review Red was added to HK1.
Source BabySeq Category C gene was added to HK1.
Mode of inheritance for gene HK1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Hemolytic anemia due to hexokinase deficiency for gene: HK1
Rating Changed from Green List (high evidence) to Red List (low evidence)
BabyScreen+ newborn screening v0.0 HK1 Zornitza Stark gene: HK1 was added
gene: HK1 was added to gNBS. Sources: BeginNGS,Expert Review Green
Mode of inheritance for gene: HK1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: HK1 were set to Haemolytic anaemia due to hexokinase deficiency , MIM#235700