| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Ciliary Dyskinesia v1.5 | DNAJB13 | Zornitza Stark Classified gene: DNAJB13 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ciliary Dyskinesia v1.5 | DNAJB13 | Zornitza Stark Gene: dnajb13 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ciliary Dyskinesia v1.4 | DNAJB13 | Ain Roesley reviewed gene: DNAJB13: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Ciliary dyskinesia, primary, 34 617091; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ciliary Dyskinesia v0.61 | DNAJB13 | Zornitza Stark Marked gene: DNAJB13 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ciliary Dyskinesia v0.61 | DNAJB13 | Zornitza Stark Gene: dnajb13 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ciliary Dyskinesia v0.61 | DNAJB13 | Zornitza Stark Classified gene: DNAJB13 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ciliary Dyskinesia v0.61 | DNAJB13 | Zornitza Stark Gene: dnajb13 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ciliary Dyskinesia v0.45 | DNAJB13 |
Elena Savva gene: DNAJB13 was added gene: DNAJB13 was added to Ciliary Dyskinesia. Sources: Literature Mode of inheritance for gene: DNAJB13 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DNAJB13 were set to PMID:27486783 Phenotypes for gene: DNAJB13 were set to Ciliary dyskinesia, primary, 34 617091 Review for gene: DNAJB13 was set to AMBER Added comment: PMID: 27486783 - 2 unrelated families (missense, splice). One family hadsinopulmonary syndrome and TEM of nasal cells shows a reduction in cilia. Of remaining cilia, there was a reduction in motility. Functional studies of missense shows increased protein instability and degradation -> protein is absent from patient cilia. Summary: 2 unrelated families. Functional studies prove LOF but no animal models to make it green in this list Sources: Literature |
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