| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Respiratory ciliopathies including non-CF bronchiectasis v0.155 | RAG1 | Louise Daugherty Phenotypes for gene: RAG1 were changed from Combined immunodeficiency (CID); Combined immunodeficiency with granuloma and/or autoimmunity (CID-G/A) to Combined immunodeficiency (CID); Combined immunodeficiency with granuloma and/or autoimmunity (CID-G/A); early onset and progressive lung disease | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Respiratory ciliopathies including non-CF bronchiectasis v0.141 | RAG1 | Louise Daugherty Added comment: Comment on publications: added further publications to support gene-disease association and rating of this gene to Green | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Respiratory ciliopathies including non-CF bronchiectasis v0.141 | RAG1 | Louise Daugherty Publications for gene: RAG1 were set to 24996264 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Respiratory ciliopathies including non-CF bronchiectasis v0.139 | RAG1 | Louise Daugherty Phenotypes for gene: RAG1 were changed from to Combined immunodeficiency (CID); Combined immunodeficiency with granuloma and/or autoimmunity (CID-G/A) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Respiratory ciliopathies including non-CF bronchiectasis v0.138 | RAG1 | Louise Daugherty commented on gene: RAG1: Update from From GMS Respiratory Specialist Test Group member Ian Berry. Suggested phenotype from Sinisa Savic : Combined immunodeficiency (CID), and combined immunodeficiency with granuloma and/or autoimmunity (CID-G/A) are both associated with early onset and progressive lung disease. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Respiratory ciliopathies including non-CF bronchiectasis v0.138 | RAG1 | Louise Daugherty commented on gene: RAG1: From GMS Respiratory Specialist Test Group webex call 18th Jan 2019: agreed there is enough evidence to rate this gene Green. Ian Berry to check with Sinisa Savic and Daniel Peckham re. phenotype | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Respiratory ciliopathies including non-CF bronchiectasis v0.27 | RAG1 | Louise Daugherty Classified gene: RAG1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Respiratory ciliopathies including non-CF bronchiectasis v0.27 | RAG1 | 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. Confirm phenotype, MOI and rating. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Respiratory ciliopathies including non-CF bronchiectasis v0.27 | RAG1 | Louise Daugherty Gene: rag1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Respiratory ciliopathies including non-CF bronchiectasis v0.26 | RAG1 | 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 v0.26 | RAG1 | Louise Daugherty Publications for gene: RAG1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Respiratory ciliopathies including non-CF bronchiectasis v0.12 | RAG1 |
Louise Daugherty Source NHS GMS was added to RAG1. Rating Changed from No List (delete) to Red List (low evidence) |
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| Respiratory ciliopathies including non-CF bronchiectasis v0.4 | RAG1 |
Ian Berry gene: RAG1 was added gene: RAG1 was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources: Expert Review Mode of inheritance for gene: RAG1 was set to BIALLELIC, autosomal or pseudoautosomal Penetrance for gene: RAG1 were set to unknown Review for gene: RAG1 was set to GREEN gene: RAG1 was marked as current diagnostic Added comment: Results in varying severity phenotypes of immunodeficiency, including hypomorphic mutations resulting in CVID. Two patients have been seen in our bronchiectasis clinic with "leaky" RAG mutations and mild symptoms including bronchiectasis, with limited additional immunological findings. Bronchiectasis (with immunological phenotype) is a common feature of RAG-CVID, see e.g. PMID 24996264. 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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