Activity

Filter

Cancel
Date Panel Item Activity
11 actions
BabyScreen+ newborn screening v1.114 RPS7 Tommy Li Added phenotypes Diamond-Blackfan anaemia 8, MIM# 612563 for gene: RPS7
Publications for gene RPS7 were updated from 19061985; 23718193; 27882484; 32772263 to 27882484; 19061985; 23718193; 32772263
BabyScreen+ newborn screening v1.96 RPS7 Zornitza Stark Marked gene: RPS7 as ready
BabyScreen+ newborn screening v1.96 RPS7 Zornitza Stark Gene: rps7 has been classified as Green List (High Evidence).
BabyScreen+ newborn screening v1.96 RPS7 Zornitza Stark Phenotypes for gene: RPS7 were changed from Diamond-Blackfan anaemia 8, MIM# 612563; Diamond-Blackfan anemia to Diamond-Blackfan anaemia 8, MIM# 612563
BabyScreen+ newborn screening v1.95 RPS7 Zornitza Stark Publications for gene: RPS7 were set to
BabyScreen+ newborn screening v1.94 RPS7 Zornitza Stark Classified gene: RPS7 as Green List (high evidence)
BabyScreen+ newborn screening v1.94 RPS7 Zornitza Stark Gene: rps7 has been classified as Green List (High Evidence).
BabyScreen+ newborn screening v1.93 RPS7 Zornitza Stark Tag treatable tag was added to gene: RPS7.
Tag haematological tag was added to gene: RPS7.
BabyScreen+ newborn screening v1.93 RPS7 Zornitza Stark reviewed gene: RPS7: Rating: GREEN; Mode of pathogenicity: None; Publications: 19061985, 23718193, 27882484, 32772263; Phenotypes: Diamond-Blackfan anemia 8, MIM# 612563; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
BabyScreen+ newborn screening v0.0 RPS7 Zornitza Stark Source Expert Review Red was added to RPS7.
Source BabySeq Category C gene was added to RPS7.
Added phenotypes Diamond-Blackfan anemia for gene: RPS7
Rating Changed from Green List (high evidence) to Red List (low evidence)
BabyScreen+ newborn screening v0.0 RPS7 Zornitza Stark gene: RPS7 was added
gene: RPS7 was added to gNBS. Sources: BeginNGS,Expert Review Green
Mode of inheritance for gene: RPS7 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: RPS7 were set to Diamond-Blackfan anaemia 8, MIM# 612563