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| Mackenzie's Mission_Reproductive Carrier Screening v0.30 | PIBF1 | Sarah Righetti reviewed gene: PIBF1: Rating: AMBER; Mode of pathogenicity: None; Publications: 26167768, 29695797, 30858804, 33004012; Phenotypes: JOUBERT SYNDROME 33, OMIM# 617767; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mackenzie's Mission_Reproductive Carrier Screening v0.30 | PIBF1 | Sarah Righetti Deleted their review | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mackenzie's Mission_Reproductive Carrier Screening v0.27 | PIBF1 |
Sarah Righetti gene: PIBF1 was added gene: PIBF1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Literature Mode of inheritance for gene: PIBF1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PIBF1 were set to 26167768; 29695797; 30858804; 33004012 Phenotypes for gene: PIBF1 were set to OMIM# 617767: JOUBERT SYNDROME 33; JBTS33 Review for gene: PIBF1 was set to AMBER Added comment: Seven Joubert families, four with the same founder variant (all Hutterite) Sources: Literature |
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