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Prepair 1000+ v1.1302 PTS Zornitza Stark Marked gene: PTS as ready
Prepair 1000+ v1.1302 PTS Zornitza Stark Gene: pts has been classified as Green List (High Evidence).
Prepair 1000+ v1.1302 PTS Zornitza Stark Phenotypes for gene: PTS were changed from Hyperphenylalaninemia, BH4-deficient, A, 261640 (3) to Hyperphenylalaninemia, BH4-deficient, A, MIM# 261640
Prepair 1000+ v1.1301 PTS Zornitza Stark Publications for gene: PTS were set to
Prepair 1000+ v1.1257 PTS Marta Cifuentes Ochoa reviewed gene: PTS: Rating: GREEN; Mode of pathogenicity: None; Publications: 36583021, 36212127, 19830588, 22237589; Phenotypes: Hyperphenylalaninemia, BH4-deficient, A, MIM# 261640, BH4-deficient hyperphenylalaninemia A, MONDO:0009863; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.3 PTS Seb Lunke Added phenotypes Hyperphenylalaninemia, BH4-deficient, A, 261640 (3) for gene: PTS
Prepair 1000+ v0.0 PTS Zornitza Stark gene: PTS was added
gene: PTS was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PTS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PTS were set to Hyperphenylalaninemia, BH4-deficient, A, 261640 (3)