| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Respiratory ciliopathies including non-CF bronchiectasis v0.138 | PIK3R1 | Louise Daugherty commented on gene: PIK3R1: 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 v0.25 | PIK3R1 | Louise Daugherty Classified gene: PIK3R1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Respiratory ciliopathies including non-CF bronchiectasis v0.25 | PIK3R1 | 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 v0.25 | PIK3R1 | Louise Daugherty Gene: pik3r1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Respiratory ciliopathies including non-CF bronchiectasis v0.24 | PIK3R1 | 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 v0.24 | PIK3R1 | Louise Daugherty Phenotypes for gene: PIK3R1 were changed from to Immunodeficiency 36, 616005; Bronchiectasis | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Respiratory ciliopathies including non-CF bronchiectasis v0.23 | PIK3R1 | 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 v0.23 | PIK3R1 | Louise Daugherty Publications for gene: PIK3R1 were set to 29556229 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Respiratory ciliopathies including non-CF bronchiectasis v0.22 | PIK3R1 | Louise Daugherty Publications for gene: PIK3R1 were set to PMID: 29556229 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Respiratory ciliopathies including non-CF bronchiectasis v0.12 | PIK3R1 |
Louise Daugherty Source NHS GMS was added to PIK3R1. Rating Changed from No List (delete) to Red List (low evidence) |
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| Respiratory ciliopathies including non-CF bronchiectasis v0.4 | PIK3R1 |
Ian Berry gene: PIK3R1 was added gene: PIK3R1 was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources: Expert Review Mode of inheritance for gene: PIK3R1 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Publications for gene: PIK3R1 were set to PMID: 29556229 Penetrance for gene: PIK3R1 were set to unknown Review for gene: PIK3R1 was set to GREEN gene: PIK3R1 was marked as current diagnostic Added comment: Expert review by Dr Sinisa Savic (Clinical Immunologist) and Dr Daniel Peckham (Respiratory Physician), bronchiectasis expert team from Leeds. Causes a form of primary immunodeficiency which frequently results in bronchiectasis with limited additional immunological findings. Sources: Expert Review |
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