Activity

Filter

Cancel
Date Panel Item Activity
8 actions
Fetal anomalies v0.149 MYH8 Rebecca Foulger Source Expert Review Green was added to MYH8.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v0.148 MYH8 Rebecca Foulger edited their review of gene: MYH8: 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. Additional notes from clinical review: Disease confidence in DD-G2P is 'both DD and IF'. Action taken: Promoted MYH8 gene rating from Amber to Green.; Changed rating: GREEN
Fetal anomalies v0.110 MYH8 Rebecca Foulger commented on gene: MYH8: Changed rating to Amber to reflect DDG2P Disease confidence of 'DD and IF' for CARNEY COMPLEX VARIANT; DISTAL ARTHROGRYPOSIS TYPE.
Fetal anomalies v0.109 MYH8 Rebecca Foulger Source Expert Review Amber was added to MYH8.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Fetal anomalies v0.7 MYH8 Rebecca Foulger commented on gene: MYH8: Rating in original PAGE file: 'both DD and IF' for CARNEY COMPLEX VARIANT and DISTAL ARTHROGRYPOSIS TYPE.
Fetal anomalies v0.3 MYH8 Rebecca Foulger reviewed gene: MYH8: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.1 MYH8 Rebecca Foulger Added phenotypes DISTAL ARTHROGRYPOSIS TYPE for gene: MYH8
Fetal anomalies v0.1 MYH8 Rebecca Foulger gene: MYH8 was added
gene: MYH8 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: MYH8 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: MYH8 were set to CARNEY COMPLEX VARIANT