Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Ductal plate malformation v0.27 | CCDC39 |
Ivone Leong Source Expert Review Red was added to CCDC39. Rating Changed from Green List (high evidence) to Red List (low evidence) |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ductal plate malformation v0.26 | CCDC39 | Ivone Leong reviewed gene: CCDC39: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ductal plate malformation v0.17 | CCDC39 | Ivone Leong Mode of inheritance for gene CCDC39 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ductal plate malformation v0.2 | CCDC39 |
Ivone Leong gene: CCDC39 was added gene: CCDC39 was added to Ductal plate malformation (DPM). Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,UKGTN Mode of inheritance for gene: CCDC39 was set to Unknown Phenotypes for gene: CCDC39 were set to Ciliary dyskinesia, primary, 14 (613807) |