| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Respiratory ciliopathies including non-CF bronchiectasis v1.55 | DNAJB13 |
Ivone Leong Tag for-review was removed from gene: DNAJB13. Tag watchlist tag was added to gene: DNAJB13. |
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| Respiratory ciliopathies including non-CF bronchiectasis v1.55 | DNAJB13 | Ivone Leong changed review comment from: The rating of this gene has been updated following NHS Genomic Medicine Service approval.; to: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Respiratory ciliopathies including non-CF bronchiectasis v1.55 | DNAJB13 | Ivone Leong changed review comment from: Submitted on behalf of NHS GMS "One study only, requires more research for inlcusion into diagnostic test. Amber genes can be included in panel designs for this research."; to: Submitted on behalf of NHS GMS "One study only, requires more research for inlcusion into diagnostic test. Amber genes can be included in panel designs for this research." | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Respiratory ciliopathies including non-CF bronchiectasis v1.55 | DNAJB13 | Ivone Leong commented on gene: DNAJB13: Submitted on behalf of NHS GMS "One study only, requires more research for inlcusion into diagnostic test. Amber genes can be included in panel designs for this research." | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Respiratory ciliopathies including non-CF bronchiectasis v1.55 | DNAJB13 | Ivone Leong commented on gene: DNAJB13: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Respiratory ciliopathies including non-CF bronchiectasis v1.54 | DNAJB13 |
Ivone Leong Source Expert Review Amber was added to DNAJB13. Rating Changed from Green List (high evidence) to Amber List (moderate evidence) |
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| Respiratory ciliopathies including non-CF bronchiectasis v1.39 | DNAJB13 | Ivone Leong reviewed gene: DNAJB13: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Respiratory ciliopathies including non-CF bronchiectasis v1.39 | DNAJB13 | Ivone Leong Tag for-review tag was added to gene: DNAJB13. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Respiratory ciliopathies including non-CF bronchiectasis v1.39 | DNAJB13 | Ivone Leong Publications for gene: DNAJB13 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Respiratory ciliopathies including non-CF bronchiectasis v1.38 | DNAJB13 | Ivone Leong Phenotypes for gene: DNAJB13 were changed from Ciliary dyskinesia, primary, 34, 617091 to Ciliary dyskinesia, primary, 34, OMIM:617091, MONDO:0014909 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Respiratory ciliopathies including non-CF bronchiectasis v1.7 | DNAJB13 | Zornitza Stark reviewed gene: DNAJB13: Rating: AMBER; Mode of pathogenicity: None; Publications: 27486783; Phenotypes: Ciliary dyskinesia, primary, 34, MIM# 617091; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Respiratory ciliopathies including non-CF bronchiectasis v0.146 | DNAJB13 | Louise Daugherty Mode of inheritance for gene: DNAJB13 was changed from to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Respiratory ciliopathies including non-CF bronchiectasis v0.145 | DNAJB13 | Louise Daugherty Phenotypes for gene: DNAJB13 were changed from to Ciliary dyskinesia, primary, 34, 617091 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Respiratory ciliopathies including non-CF bronchiectasis v0.3 | DNAJB13 |
Louise Daugherty Source Expert Review Green was added to DNAJB13. Rating Changed from Red List (low evidence) to Green List (high evidence) |
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| Respiratory ciliopathies including non-CF bronchiectasis v0.2 | DNAJB13 | Louise Daugherty reviewed gene: DNAJB13: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Respiratory ciliopathies including non-CF bronchiectasis v0.1 | DNAJB13 |
Louise Daugherty gene: DNAJB13 was added gene: DNAJB13 was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources: NHS GMS Mode of inheritance for gene: DNAJB13 was set to |
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