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Fetal anomalies v0.135 MYO5A Rebecca Foulger Source Expert Review Red was added to MYO5A.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.134 MYO5A Rebecca Foulger edited their review of gene: MYO5A: 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 MYO5A gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.9 MYO5A Rebecca Foulger reviewed gene: MYO5A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.1 MYO5A Rebecca Foulger Added phenotypes GRISCELLI SYNDROME TYPE 3 for gene: MYO5A
Fetal anomalies v0.1 MYO5A Rebecca Foulger gene: MYO5A was added
gene: MYO5A was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: MYO5A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MYO5A were set to ELEJALDE SYNDROME