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Additional findings_Paediatric v0.2 | ACTA1 |
Zornitza Stark Source BabySeq Category C gene was added to ACTA1. Source Expert Review Red was added to ACTA1. Added phenotypes Congenital myopathy with fiber type disproportion for gene: ACTA1 Rating Changed from Green List (high evidence) to Red List (low evidence) |
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Additional findings_Paediatric v0.2 | ACTA1 | Zornitza Stark Added phenotypes Nemaline myopathy for gene: ACTA1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Paediatric v0.0 | ACTA1 |
Zornitza Stark gene: ACTA1 was added gene: ACTA1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene Mode of inheritance for gene: ACTA1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: ACTA1 were set to Nemaline myopathy |