Activity

Filter

Cancel
Date Panel Item Activity
10 actions
Fetal anomalies v0.2623 MED13L Zornitza Stark Marked gene: MED13L as ready
Fetal anomalies v0.2623 MED13L Zornitza Stark Gene: med13l has been classified as Green List (High Evidence).
Fetal anomalies v0.2623 MED13L Zornitza Stark Phenotypes for gene: MED13L were changed from INTELLECTUAL DISABILITY to Impaired intellectual development and distinctive facial features with or without cardiac defects MIM#616789
Fetal anomalies v0.2622 MED13L Zornitza Stark Publications for gene: MED13L were set to
Fetal anomalies v0.2621 MED13L Zornitza Stark Mode of inheritance for gene: MED13L was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.2620 MED13L Zornitza Stark Classified gene: MED13L as Green List (high evidence)
Fetal anomalies v0.2620 MED13L Zornitza Stark Gene: med13l has been classified as Green List (High Evidence).
Fetal anomalies v0.2619 MED13L Zornitza Stark reviewed gene: MED13L: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Impaired intellectual development and distinctive facial features with or without cardiac defects MIM#616789; Mode of inheritance: None
Fetal anomalies v0.2352 MED13L Ain Roesley reviewed gene: MED13L: Rating: AMBER; Mode of pathogenicity: None; Publications: 33930262, 29959045, 32646507; Phenotypes: Impaired intellectual development and distinctive facial features with or without cardiac defects MIM#616789; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Fetal anomalies v0.0 MED13L Zornitza Stark gene: MED13L was added
gene: MED13L was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: MED13L was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: MED13L were set to INTELLECTUAL DISABILITY