Respiratory ciliopathies including non-CF bronchiectasis
Gene: PIK3R1From 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. phenotypeCreated: 21 Jan 2019, 5:30 p.m.
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.Created: 17 Jan 2019, 11:02 a.m.
Comment on phenotypes: Added phenotypes from OMIM that indicate relevance to inclusion on the Respiratory ciliopathies including non-CF bronchiectasis panelCreated: 17 Jan 2019, 11:02 a.m.
Comment on publications: Added publication suggested by external reviewer to support support gene-disease associationCreated: 17 Jan 2019, 11:01 a.m.
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 ReviewCreated: 11 Jan 2019, 4:38 p.m.
Mode of inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Publications
Variants in this GENE are reported as part of current diagnostic practice
Gene: pik3r1 has been classified as Green List (High Evidence).
Phenotypes for gene: PIK3R1 were changed from to Immunodeficiency 36, 616005; Bronchiectasis
Publications for gene: PIK3R1 were set to 29556229
Publications for gene: PIK3R1 were set to PMID: 29556229
Source NHS GMS was added to PIK3R1. Rating Changed from No List (delete) to Red List (low evidence)
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