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| Prepair 1000+ v1.1566 | SERPINH1 | Andrew Coventry reviewed gene: SERPINH1: Rating: GREEN; Mode of pathogenicity: None; Publications: 20188343, 25510505, 31179625, 29520608, 33524049; Phenotypes: Osteogenesis imperfecta, type X, MIM# 613848, Osteogenesis imperfecta type 10, MONDO:0013459; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v1.3 | SERPINH1 | Seb Lunke Added phenotypes Orofaciodigital syndrome VI, 277170 (3) for gene: SERPINH1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.0 | SERPINH1 |
Zornitza Stark gene: SERPINH1 was added gene: SERPINH1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: SERPINH1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SERPINH1 were set to Orofaciodigital syndrome VI, 277170 (3) |
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