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Genomic newborn screening: BabyScreen+ v2.0 CCDC78 Gene migrated from ENSG00000162004 to ENSG00000162004 (gene set migration)
Genomic newborn screening: BabyScreen+ v0.0 CCDC78 Zornitza Stark gene: CCDC78 was added
gene: CCDC78 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: CCDC78 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: CCDC78 were set to Congenital myopathy with prominent internal nuclei and atypical cores