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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)
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