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| Prepair 1000+ v1.1566 | PPT1 | Lauren Thomas reviewed gene: PPT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 7637805, 9425237, 31741823, 19793312; Phenotypes: Ceroid lipofuscinosis, neuronal, 1, MIM# 256730; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v1.3 | PPT1 | Seb Lunke Added phenotypes Ceroid lipofuscinosis, neuronal, 1, 256730 (3) for gene: PPT1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.0 | PPT1 |
Zornitza Stark gene: PPT1 was added gene: PPT1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: PPT1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PPT1 were set to Ceroid lipofuscinosis, neuronal, 1, 256730 (3) |
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