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| BabyScreen+ newborn screening v1.114 | PREPL | Tommy Li Added phenotypes Hypotonia - cystinuria syndrome; Myasthenic syndrome, congenital, 22, MIM# 616224 for gene: PREPL | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening 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) |
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| BabyScreen+ newborn screening 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 |
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