Activity

Filter

Cancel
Date Panel Item Activity
9 actions
Congenital Disorders of Glycosylation v0.273 PIGL Zornitza Stark edited their review of gene: PIGL: Changed phenotypes: CHIME syndrome, MIM# 280000, MONDO:0010221
Congenital Disorders of Glycosylation v0.273 PIGL Zornitza Stark Marked gene: PIGL as ready
Congenital Disorders of Glycosylation v0.273 PIGL Zornitza Stark Gene: pigl has been classified as Green List (High Evidence).
Congenital Disorders of Glycosylation v0.273 PIGL Zornitza Stark Tag SV/CNV tag was added to gene: PIGL.
Tag founder tag was added to gene: PIGL.
Congenital Disorders of Glycosylation v0.273 PIGL Zornitza Stark Phenotypes for gene: PIGL were changed from to CHIME syndrome, MIM# 280000, MONDO:0010221
Congenital Disorders of Glycosylation v0.272 PIGL Zornitza Stark Publications for gene: PIGL were set to
Congenital Disorders of Glycosylation v0.271 PIGL Zornitza Stark Mode of inheritance for gene: PIGL was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.270 PIGL Zornitza Stark reviewed gene: PIGL: Rating: GREEN; Mode of pathogenicity: None; Publications: 22444671, 31535386, 30023290, 29473937, 28371479, 25706356; Phenotypes: CHIME syndrome, MIM# 280000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.0 PIGL Zornitza Stark gene: PIGL was added
gene: PIGL was added to Congenital Disorders of Glycosylation_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: PIGL was set to Unknown