Activity

Filter

Cancel
Date Panel Item Activity
5 actions
Fetal anomalies v0.135 GRIN2A Rebecca Foulger Source Expert Review Red was added to GRIN2A.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.134 GRIN2A Rebecca Foulger edited their review of gene: GRIN2A: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted GRIN2A gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.9 GRIN2A Rebecca Foulger reviewed gene: GRIN2A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.1 GRIN2A Rebecca Foulger Added phenotypes LANDAU-KLEFFNER SYNDROME for gene: GRIN2A
Fetal anomalies v0.1 GRIN2A Rebecca Foulger gene: GRIN2A was added
gene: GRIN2A was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: GRIN2A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: GRIN2A were set to EPILEPSY WITH NEURODEVELOPMENTAL DEFECTS