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| Respiratory ciliopathies including non-CF bronchiectasis v1.56 | PIK3CD | Arina Puzriakova Phenotypes for gene: PIK3CD were changed from Immunodeficiency 14, 615513; Bronchiectasis to Immunodeficiency 14A, autosomal dominant, OMIM:615513; Bronchiectasis | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Respiratory ciliopathies including non-CF bronchiectasis v0.138 | PIK3CD | Louise Daugherty commented on gene: PIK3CD: 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 v0.11 | PIK3CD | Anna de Burca Added comment: Comment on phenotypes: Phenotype added based on external expert review and evidence from OMIM | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Respiratory ciliopathies including non-CF bronchiectasis v0.11 | PIK3CD | Anna de Burca Phenotypes for gene: PIK3CD were changed from to Immunodeficiency 14, 615513; Bronchiectasis | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Respiratory ciliopathies including non-CF bronchiectasis v0.10 | PIK3CD | Louise Daugherty Mode of pathogenicity for gene: PIK3CD was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Respiratory ciliopathies including non-CF bronchiectasis v0.9 | PIK3CD | Louise Daugherty Publications for gene: PIK3CD were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Respiratory ciliopathies including non-CF bronchiectasis v0.8 | PIK3CD | Anna de Burca Classified gene: PIK3CD as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Respiratory ciliopathies including non-CF bronchiectasis v0.8 | PIK3CD | Anna de Burca Added comment: Comment on list classification: Upgraded to green based on review by Ian Berry. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Respiratory ciliopathies including non-CF bronchiectasis v0.8 | PIK3CD | Anna de Burca Gene: pik3cd has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Respiratory ciliopathies including non-CF bronchiectasis v0.7 | PIK3CD | Louise Daugherty Mode of inheritance for gene: PIK3CD was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Respiratory ciliopathies including non-CF bronchiectasis v0.4 | PIK3CD | Ian Berry reviewed gene: PIK3CD: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: PMID: 29556229; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Respiratory ciliopathies including non-CF bronchiectasis v0.3 | PIK3CD |
Louise Daugherty Source Expert Review Amber was added to PIK3CD. Rating Changed from Red List (low evidence) to Amber List (moderate evidence) |
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| Respiratory ciliopathies including non-CF bronchiectasis v0.2 | PIK3CD | Louise Daugherty reviewed gene: PIK3CD: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Respiratory ciliopathies including non-CF bronchiectasis v0.1 | PIK3CD |
Louise Daugherty gene: PIK3CD was added gene: PIK3CD was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources: NHS GMS Mode of inheritance for gene: PIK3CD was set to |
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