Activity

Filter

Cancel
Date Panel Item Activity
9 actions
Fetal anomalies v0.2715 NAGLU Zornitza Stark Marked gene: NAGLU as ready
Fetal anomalies v0.2715 NAGLU Zornitza Stark Gene: naglu has been classified as Red List (Low Evidence).
Fetal anomalies v0.2715 NAGLU Zornitza Stark Phenotypes for gene: NAGLU were changed from MUCOPOLYSACCHARIDOSIS TYPE 3B to Mucopolysaccharidosis type IIIB (Sanfilippo B), MIM# 252920
Fetal anomalies v0.2714 NAGLU Zornitza Stark Publications for gene: NAGLU were set to
Fetal anomalies v0.2713 NAGLU Zornitza Stark Classified gene: NAGLU as Red List (low evidence)
Fetal anomalies v0.2713 NAGLU Zornitza Stark Gene: naglu has been classified as Red List (Low Evidence).
Fetal anomalies v0.2712 NAGLU Zornitza Stark reviewed gene: NAGLU: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Mucopolysaccharidosis type IIIB (Sanfilippo B), MIM# 252920; Mode of inheritance: None
Fetal anomalies v0.2665 NAGLU Ain Roesley reviewed gene: NAGLU: Rating: AMBER; Mode of pathogenicity: None; Publications: 8650226; Phenotypes: Mucopolysaccharidosis type IIIB (Sanfilippo B), MIM# 252920; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.0 NAGLU Zornitza Stark gene: NAGLU was added
gene: NAGLU was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: NAGLU was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NAGLU were set to MUCOPOLYSACCHARIDOSIS TYPE 3B