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Genomic newborn screening: BabyScreen+ v0.0 PREPL Zornitza Stark Source Expert Review Red was added to PREPL.
Source BabySeq Category C gene was added to PREPL.
Added phenotypes Hypotonia - cystinuria syndrome for gene: PREPL
Rating Changed from Green List (high evidence) to Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.0 PREPL Zornitza Stark gene: PREPL was added
gene: PREPL was added to gNBS. Sources: BeginNGS,Expert Review Green
Mode of inheritance for gene: PREPL was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PREPL were set to Myasthenic syndrome, congenital, 22, MIM# 616224