Activity

Filter

Cancel
Date Panel Item Activity
9 actions
Genomic newborn screening: BabyScreen+ v0.1303 GGCX Zornitza Stark reviewed gene: GGCX: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Vitamin K-dependent clotting factors, combined deficiency of, 1 MIM# 277450; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1303 GGCX Zornitza Stark Marked gene: GGCX as ready
Genomic newborn screening: BabyScreen+ v0.1303 GGCX Zornitza Stark Gene: ggcx has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1303 GGCX Zornitza Stark Publications for gene: GGCX were set to
Genomic newborn screening: BabyScreen+ v0.1302 GGCX Zornitza Stark Tag treatable tag was added to gene: GGCX.
Tag haematological tag was added to gene: GGCX.
Genomic newborn screening: BabyScreen+ v0.950 GGCX John Christodoulou edited their review of gene: GGCX: Changed phenotypes: bleeding disorder, pseudoxanthoma elasticum, pigmentary retinopathy, congenital heart disease
Genomic newborn screening: BabyScreen+ v0.950 GGCX John Christodoulou changed review comment from: can have its onset in the newborn period and can be severe

treatable with vitamin K; to: can have its onset in the newborn period and can be severe

treatable with vitamin K
Genomic newborn screening: BabyScreen+ v0.950 GGCX John Christodoulou reviewed gene: GGCX: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 28125048; Phenotypes: bleeding disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.0 GGCX Zornitza Stark gene: GGCX was added
gene: GGCX was added to gNBS. Sources: Expert list,Expert Review Green
Mode of inheritance for gene: GGCX was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GGCX were set to Vitamin K-dependent clotting factors, combined deficiency of, 1 MIM# 277450