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Fetal anomalies v0.311 MAN1B1 Rebecca Foulger commented on gene: MAN1B1: This gene was reviewed by Anna de Burca (Genomics England Clinical Team) under the category of storage disorders. Outcome of review: Rate as Amber- mild dysmorphic phenotype.
Fetal anomalies v0.310 MAN1B1 Rebecca Foulger Source Expert Review Amber was added to MAN1B1.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Fetal anomalies v0.9 MAN1B1 Rebecca Foulger commented on gene: MAN1B1: DDG2P rating in original PAGE list: Confirmed for AUTOSOMAL RECESSIVE MENTAL RETARDATION
Fetal anomalies v0.3 MAN1B1 Rebecca Foulger reviewed gene: MAN1B1: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.1 MAN1B1 Rebecca Foulger gene: MAN1B1 was added
gene: MAN1B1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: MAN1B1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MAN1B1 were set to AUTOSOMAL RECESSIVE MENTAL RETARDATION