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Ductal plate malformation v1.16 | OFD1 | Arina Puzriakova Tag curated_removed tag was added to gene: OFD1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ductal plate malformation v0.73 | OFD1 | Ivone Leong commented on gene: OFD1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ductal plate malformation v0.35 | OFD1 | Bill Griffiths reviewed gene: OFD1: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 20818665; Phenotypes: biliary dysplasia; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ductal plate malformation v0.24 | OFD1 |
Ivone Leong Source Expert Review Removed was added to OFD1. Rating Changed from Green List (high evidence) to No List (delete) |
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Ductal plate malformation v0.2 | OFD1 |
Ivone Leong gene: OFD1 was added gene: OFD1 was added to Ductal plate malformation (DPM). Sources: Expert list,UKGTN,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory Mode of inheritance for gene: OFD1 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Phenotypes for gene: OFD1 were set to Orofaciodigital syndrome I (311200); Joubert syndrome 10 (300804) |