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Additional findings_Paediatric v1.0 KPTN Gene migrated from ENSG00000118162 to ENSG00000118162 (gene set migration)
Additional findings_Paediatric v0.2 KPTN Zornitza Stark gene: KPTN was added
gene: KPTN was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: KPTN was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: KPTN were set to Macrocephaly, neurodevelopmental delay, and seizures