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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) |
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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 |