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Additional findings_Paediatric v0.2 SPTLC1 Zornitza Stark gene: SPTLC1 was added
gene: SPTLC1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: SPTLC1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SPTLC1 were set to Neuropathy, hereditary sensory and autonomic, type IA