Activity

Filter

Cancel
Date Panel Item Activity
5 actions
Fetal anomalies v0.161 WNT7A Rebecca Foulger edited their review of gene: WNT7A: 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: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.9 WNT7A Rebecca Foulger commented on gene: WNT7A: DDG2P rating in original PAGE list: Confirmed for FUHRMANN SYNDROME and Confirmed for LIMB/PELVIS-HYPOPLASIA/APLASIA SYNDROME.
Fetal anomalies v0.3 WNT7A Rebecca Foulger reviewed gene: WNT7A: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.1 WNT7A Rebecca Foulger Added phenotypes LIMB/PELVIS-HYPOPLASIA/APLASIA SYNDROME for gene: WNT7A
Fetal anomalies v0.1 WNT7A Rebecca Foulger gene: WNT7A was added
gene: WNT7A was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: WNT7A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: WNT7A were set to FUHRMANN SYNDROME