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Fetal anomalies v0.311 GM2A Rebecca Foulger commented on gene: GM2A: This gene was reviewed by Anna de Burca (Genomics England Clinical Team) under the category of storage disorders. Outcome of review: Rate as Amber- neurological phenotype.
Fetal anomalies v0.310 GM2A Rebecca Foulger Source Expert Review Amber was added to GM2A.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Fetal anomalies v0.9 GM2A Rebecca Foulger reviewed gene: GM2A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.1 GM2A Rebecca Foulger gene: GM2A was added
gene: GM2A was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: GM2A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GM2A were set to GM2-GANGLIOSIDOSIS TYPE AB