| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Respiratory ciliopathies including non-CF bronchiectasis v0.138 | NFKB1 | Louise Daugherty commented on gene: NFKB1: From GMS Respiratory Specialist Test Group webex call 18th Jan 2019: agreed there enough evidence to rate this gene Green | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Respiratory ciliopathies including non-CF bronchiectasis v0.19 | NFKB1 | Louise Daugherty Added comment: Comment on publications: Added publication suggested by external reviewer to support support gene-disease association. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Respiratory ciliopathies including non-CF bronchiectasis v0.19 | NFKB1 | Louise Daugherty Publications for gene: NFKB1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Respiratory ciliopathies including non-CF bronchiectasis v0.16 | NFKB1 | Louise Daugherty Phenotypes for gene: NFKB1 were changed from Immunodeficiency, common variable 12, 616576; Recurrent sinopulmonary infections to Immunodeficiency, common variable, 12, 616576; Recurrent sinopulmonary infections | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Respiratory ciliopathies including non-CF bronchiectasis v0.15 | NFKB1 | Louise Daugherty Phenotypes for gene: NFKB1 were changed from Immunodeficiency, common variable, 12; Recurrent sinopulmonary infections to Immunodeficiency, common variable 12, 616576; Recurrent sinopulmonary infections | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Respiratory ciliopathies including non-CF bronchiectasis v0.14 | NFKB1 | Louise Daugherty Added comment: Comment on phenotypes: Added phenotypes from OMIM that indicate relevance to inclusion on the Respiratory ciliopathies including non-CF bronchiectasis panel | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Respiratory ciliopathies including non-CF bronchiectasis v0.14 | NFKB1 | Louise Daugherty Phenotypes for gene: NFKB1 were changed from to Immunodeficiency, common variable, 12; Recurrent sinopulmonary infections | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Respiratory ciliopathies including non-CF bronchiectasis v0.13 | NFKB1 | Louise Daugherty Classified gene: NFKB1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Respiratory ciliopathies including non-CF bronchiectasis v0.13 | NFKB1 | Louise Daugherty Added comment: Comment on list classification: New gene added by external reviewer. To be reviewed in GMS Respiratory specialist test group 18th Jan 2018 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Respiratory ciliopathies including non-CF bronchiectasis v0.13 | NFKB1 | Louise Daugherty Gene: nfkb1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Respiratory ciliopathies including non-CF bronchiectasis v0.12 | NFKB1 |
Louise Daugherty Source NHS GMS was added to NFKB1. Rating Changed from No List (delete) to Red List (low evidence) |
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| Respiratory ciliopathies including non-CF bronchiectasis v0.4 | NFKB2 |
Ian Berry gene: NFKB2 was added gene: NFKB2 was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources: Expert Review Mode of inheritance for gene: NFKB2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Review for gene: NFKB2 was set to GREEN gene: NFKB2 was marked as current diagnostic Added comment: NFKB1 & NFKB2 are the most common causes of primary immunodeficiency in the BRIDGE study. Phenotypes can be highly variable, even within families, and include bronchiectasis (see e.g. PMID 26279205). Expert review by Dr Sinisa Savic (Clinical Immunologist) and Dr Daniel Peckham (Respiratory Physician), bronchiectasis expert team from Leeds. Sources: Expert Review |
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| Respiratory ciliopathies including non-CF bronchiectasis v0.4 | NFKB1 |
Ian Berry gene: NFKB1 was added gene: NFKB1 was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources: Expert Review Mode of inheritance for gene: NFKB1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Review for gene: NFKB1 was set to GREEN Added comment: NFKB1 & NFKB2 are the most common causes of primary immunodeficiency in the BRIDGE study. Phenotypes can be highly variable, even within families, and include bronchiectasis (see e.g. PMID 26279205). Expert review by Dr Sinisa Savic (Clinical Immunologist) and Dr Daniel Peckham (Respiratory Physician), bronchiectasis expert team from Leeds. Sources: Expert Review |
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