Activity

Filter

Cancel
Date Panel Item Activity
11 actions
BabyScreen+ newborn screening v1.114 TSC1 Tommy Li Added phenotypes Tuberous sclerosis 1, MIM#191100 for gene: TSC1
BabyScreen+ newborn screening v0.1051 TSC1 Zornitza Stark Classified gene: TSC1 as Red List (low evidence)
BabyScreen+ newborn screening v0.1051 TSC1 Zornitza Stark Gene: tsc1 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.1050 TSC1 Zornitza Stark Tag for review was removed from gene: TSC1.
BabyScreen+ newborn screening v0.1050 TSC1 Zornitza Stark reviewed gene: TSC1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Tuberous sclerosis-1 MIM#191100; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
BabyScreen+ newborn screening v0.927 TSC1 Zornitza Stark Marked gene: TSC1 as ready
BabyScreen+ newborn screening v0.927 TSC1 Zornitza Stark Gene: tsc1 has been classified as Green List (High Evidence).
BabyScreen+ newborn screening v0.927 TSC1 Zornitza Stark Publications for gene: TSC1 were set to
BabyScreen+ newborn screening v0.926 TSC1 Zornitza Stark Tag for review tag was added to gene: TSC1.
BabyScreen+ newborn screening v0.890 TSC1 Lilian Downie reviewed gene: TSC1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 20301399; Phenotypes: Tuberous sclerosis-1 MIM#191100; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
BabyScreen+ newborn screening v0.0 TSC1 Zornitza Stark gene: TSC1 was added
gene: TSC1 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: TSC1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: TSC1 were set to Tuberous sclerosis 1, MIM#191100