Activity

Filter

Cancel
Date Panel Item Activity
11 actions
Fetal anomalies v0.2554 POLR3A Zornitza Stark Marked gene: POLR3A as ready
Fetal anomalies v0.2554 POLR3A Zornitza Stark Gene: polr3a has been classified as Green List (High Evidence).
Fetal anomalies v0.2554 POLR3A Zornitza Stark Phenotypes for gene: POLR3A were changed from Autosomal Recessive Wiedemann Rautenstrauch Syndrome, 264090; LEUKODYSTROPHY, HYPOMYELINATING, 7, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM to Wiedemann-Rautenstrauch syndrome, MIM# 264090
Fetal anomalies v0.2553 POLR3A Zornitza Stark Publications for gene: POLR3A were set to
Fetal anomalies v0.2552 POLR3A Zornitza Stark Classified gene: POLR3A as Green List (high evidence)
Fetal anomalies v0.2552 POLR3A Zornitza Stark Gene: polr3a has been classified as Green List (High Evidence).
Fetal anomalies v0.2551 POLR3A Zornitza Stark reviewed gene: POLR3A: Rating: GREEN; Mode of pathogenicity: None; Publications: 30323018; Phenotypes: Wiedemann-Rautenstrauch syndrome, MIM# 264090; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.2187 POLR3A Chirag Patel Classified gene: POLR3A as Red List (low evidence)
Fetal anomalies v0.2187 POLR3A Chirag Patel Gene: polr3a has been classified as Red List (Low Evidence).
Fetal anomalies v0.2186 POLR3A Chirag Patel reviewed gene: POLR3A: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Fetal anomalies v0.0 POLR3A Zornitza Stark gene: POLR3A was added
gene: POLR3A was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: POLR3A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: POLR3A were set to Autosomal Recessive Wiedemann Rautenstrauch Syndrome, 264090; LEUKODYSTROPHY, HYPOMYELINATING, 7, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM