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Fetal anomalies v0.311 MAN2B1 Rebecca Foulger edited their review of gene: MAN2B1: Added comment: This gene was reviewed by Anna de Burca (Genomics England Clinical Team) under the category of storage disorders. Outcome of review: Rate as Red- not structural phenotype.; Changed rating: RED
Fetal anomalies v0.310 MAN2B1 Rebecca Foulger Source Expert Review Red was added to MAN2B1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.9 MAN2B1 Rebecca Foulger reviewed gene: MAN2B1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.1 MAN2B1 Rebecca Foulger gene: MAN2B1 was added
gene: MAN2B1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: MAN2B1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MAN2B1 were set to LYSOSOMAL ALPHA-MANNOSIDOSIS