Activity

Filter

Cancel
Date Panel Item Activity
7 actions
Fetal anomalies v0.3621 DLG3 Zornitza Stark Marked gene: DLG3 as ready
Fetal anomalies v0.3621 DLG3 Zornitza Stark Gene: dlg3 has been classified as Red List (Low Evidence).
Fetal anomalies v0.3621 DLG3 Zornitza Stark Phenotypes for gene: DLG3 were changed from MENTAL RETARDATION X-LINKED TYPE 90 to Mental retardation, X-linked 90, MIM#300850
Fetal anomalies v0.3620 DLG3 Zornitza Stark Publications for gene: DLG3 were set to
Fetal anomalies v0.3619 DLG3 Zornitza Stark changed review comment from: At least 6 unrelated families reported. Some females have mild symptoms.; to: At least 6 unrelated families reported. Clinical presentation is typically post-natal.
Fetal anomalies v0.3619 DLG3 Zornitza Stark edited their review of gene: DLG3: Changed rating: RED
Fetal anomalies v0.0 DLG3 Zornitza Stark gene: DLG3 was added
gene: DLG3 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: DLG3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: DLG3 were set to MENTAL RETARDATION X-LINKED TYPE 90