| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Respiratory ciliopathies including non-CF bronchiectasis v1.55 | CFAP54 | Ivone Leong Tag for-review was removed from gene: CFAP54. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Respiratory ciliopathies including non-CF bronchiectasis v1.55 | CFAP54 | Ivone Leong commented on gene: CFAP54: Submitted on behalf of NHS GMS "We have been sequencing this gene for the past 2-3 years and have not yet found a clearly pathogenic variant. A number of truncating variants were identified in CFAP54 in the 100K project, but in patients with diagnoses other than PCD and loss of function does not appear to be a disease mechanism for this gene." | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Respiratory ciliopathies including non-CF bronchiectasis v1.55 | CFAP54 | Ivone Leong commented on gene: CFAP54: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Respiratory ciliopathies including non-CF bronchiectasis v1.54 | CFAP54 |
Ivone Leong Source Expert Review Red was added to CFAP54. Rating Changed from Amber List (moderate evidence) to Red List (low evidence) |
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| Respiratory ciliopathies including non-CF bronchiectasis v1.24 | CFAP54 | Ivone Leong Tag for-review tag was added to gene: CFAP54. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Respiratory ciliopathies including non-CF bronchiectasis v1.24 | CFAP54 | Ivone Leong reviewed gene: CFAP54: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Respiratory ciliopathies including non-CF bronchiectasis v1.24 | CFAP54 | Ivone Leong Publications for gene: CFAP54 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Respiratory ciliopathies including non-CF bronchiectasis v1.7 | CFAP54 | Zornitza Stark edited their review of gene: CFAP54: Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Respiratory ciliopathies including non-CF bronchiectasis v1.7 | CFAP54 | Zornitza Stark reviewed gene: CFAP54: Rating: RED; Mode of pathogenicity: None; Publications: 26224312; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Respiratory ciliopathies including non-CF bronchiectasis v0.3 | CFAP54 |
Louise Daugherty Source Expert Review Amber was added to CFAP54. Rating Changed from Red List (low evidence) to Amber List (moderate evidence) |
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| Respiratory ciliopathies including non-CF bronchiectasis v0.2 | CFAP54 | Louise Daugherty reviewed gene: CFAP54: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Respiratory ciliopathies including non-CF bronchiectasis v0.1 | CFAP54 |
Louise Daugherty gene: CFAP54 was added gene: CFAP54 was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources: NHS GMS Mode of inheritance for gene: CFAP54 was set to |
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