Activity

Filter

Cancel
Date Panel Item Activity
6 actions
Fetal anomalies v0.2684 PAX6 Zornitza Stark Marked gene: PAX6 as ready
Fetal anomalies v0.2684 PAX6 Zornitza Stark Gene: pax6 has been classified as Green List (High Evidence).
Fetal anomalies v0.2684 PAX6 Zornitza Stark Phenotypes for gene: PAX6 were changed from COLOBOMA OF OPTIC NERVE; FOVEAL HYPOPLASIA; ANIRIDIA CEREBELLAR ATAXIA AND MENTAL DEFICIENCY; PETERS ANOMALY; KERATITIS HEREDITARY; ANIRIDIA; BILATERAL OPTIC NERVE HYPOPLASIA to Microphthalmia; Coloboma, ocular, MIM# 120200
Fetal anomalies v0.2683 PAX6 Zornitza Stark Publications for gene: PAX6 were set to
Fetal anomalies v0.2682 PAX6 Zornitza Stark Mode of inheritance for gene: PAX6 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.0 PAX6 Zornitza Stark gene: PAX6 was added
gene: PAX6 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: PAX6 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: PAX6 were set to COLOBOMA OF OPTIC NERVE; FOVEAL HYPOPLASIA; ANIRIDIA CEREBELLAR ATAXIA AND MENTAL DEFICIENCY; PETERS ANOMALY; KERATITIS HEREDITARY; ANIRIDIA; BILATERAL OPTIC NERVE HYPOPLASIA