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Additional findings_Paediatric v0.2 CACNA1A Zornitza Stark Added phenotypes Episodic ataxia, type 2 for gene: CACNA1A
Additional findings_Paediatric v0.0 CACNA1A Zornitza Stark gene: CACNA1A was added
gene: CACNA1A was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: CACNA1A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: CACNA1A were set to Episodic ataxia, type 2