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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. |
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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) |
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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 |