Activity

Filter

Cancel
Date Panel Item Activity
9 actions
Fetal anomalies v2.24 chirag patel Added reviews for gene NADSYN1 from panel Mendeliome
Fetal anomalies v2.0 NADSYN1 Gene migrated from ENSG00000172890 to ENSG00000172890 (gene set migration)
Fetal anomalies v0.824 NADSYN1 Zornitza Stark Marked gene: NADSYN1 as ready
Fetal anomalies v0.824 NADSYN1 Zornitza Stark Gene: nadsyn1 has been classified as Green List (High Evidence).
Fetal anomalies v0.824 NADSYN1 Zornitza Stark Publications for gene: NADSYN1 were set to
Fetal anomalies v0.823 NADSYN1 Zornitza Stark Classified gene: NADSYN1 as Green List (high evidence)
Fetal anomalies v0.823 NADSYN1 Zornitza Stark Gene: nadsyn1 has been classified as Green List (High Evidence).
Fetal anomalies v0.822 NADSYN1 Zornitza Stark reviewed gene: NADSYN1: Rating: GREEN; Mode of pathogenicity: None; Publications: 31883644; Phenotypes: Multiple congenital abnormalities, absent kidneys, cardiac, limb, vertebral; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.0 NADSYN1 Zornitza Stark gene: NADSYN1 was added
gene: NADSYN1 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: NADSYN1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NADSYN1 were set to Vertebral, cardiac, renal, and limb defects syndrome 3, MONDO:0030077; Vertebral, cardiac, renal, and limb defects syndrome 3, OMIM:618845