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Additional findings_Paediatric v1.0 PHKA2 Gene migrated from ENSG00000044446 to ENSG00000044446 (gene set migration)
Additional findings_Paediatric v0.2 PHKA2 Zornitza Stark gene: PHKA2 was added
gene: PHKA2 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: PHKA2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: PHKA2 were set to Phosphorylase kinase deficiency