Respiratory ciliopathies including non-CF bronchiectasis

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

Created: 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 panel

Created: 17 Jan 2019, 11:02 a.m.

Comment on publications: Added publication suggested by external reviewer to support support gene-disease association

Created: 17 Jan 2019, 11:01 a.m.

Green List (high evidence)

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

Created: 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

• PMID: 29556229

Variants in this GENE are reported as part of current diagnostic practice