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Prepair 1000+ v1.3 PSAP Seb Lunke Added phenotypes Metachromatic leukodystrophy due to SAP-b deficiency, 249900 (3) for gene: PSAP
Prepair 1000+ v0.0 PSAP Zornitza Stark gene: PSAP was added
gene: PSAP was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PSAP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PSAP were set to Metachromatic leukodystrophy due to SAP-b deficiency, 249900 (3)