Activity

Filter

Cancel
Date Panel Item Activity
9 actions
Fetal anomalies v0.3232 GNAQ Zornitza Stark Marked gene: GNAQ as ready
Fetal anomalies v0.3232 GNAQ Zornitza Stark Gene: gnaq has been classified as Red List (Low Evidence).
Fetal anomalies v0.3232 GNAQ Zornitza Stark Phenotypes for gene: GNAQ were changed from Congenital Hemangioma to Sturge-Weber syndrome, somatic, mosaic, MIM#185300
Fetal anomalies v0.3231 GNAQ Zornitza Stark Mode of inheritance for gene: GNAQ was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to Other
Fetal anomalies v0.3230 GNAQ Zornitza Stark Classified gene: GNAQ as Red List (low evidence)
Fetal anomalies v0.3230 GNAQ Zornitza Stark Gene: gnaq has been classified as Red List (Low Evidence).
Fetal anomalies v0.3229 GNAQ Zornitza Stark changed review comment from: ID can be part of the phenotype; however this condition is due to somatic mosaic gain of function variants so there may be issues with detection depending on tissue used and sequencing depth.; to: This condition is due to somatic mosaic gain of function variants so there may be issues with detection depending on tissue used and sequencing depth.
Fetal anomalies v0.3229 GNAQ Zornitza Stark edited their review of gene: GNAQ: Changed rating: RED
Fetal anomalies v0.0 GNAQ Zornitza Stark gene: GNAQ was added
gene: GNAQ was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: GNAQ was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: GNAQ were set to Congenital Hemangioma