PIK3CD

phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta
OMIM: 602839, Gene2Phenotype

7 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 7 panels
Green PIK3CD in Non-CF bronchiectasis Level 3: Respiratory ciliopathies Level 2: Ciliopathies Version 1.30	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Phenotypes Immunodeficiency 14A, autosomal dominant, OMIM:615513
Green PIK3CD in Infantile enterocolitis & monogenic inflammatory bowel disease Level 3: Gastrointestinal disorders Level 2: Gastroenterological disorders Version 1.43	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Radboud University Medical Center, Nijmegen Expert list Phenotypes Immunodeficiency 14A, autosomal dominant, OMIM:615513
Amber PIK3CD in Gastrointestinal epithelial barrier disorders Level 3: Gastrointestinal disorders Level 2: Gastroenterological disorders Version 1.75	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert list Phenotypes Immunodeficiency 14B, autosomal recessive, OMIM:619281
Green PIK3CD in COVID-19 research Level 2: Viral research Version 1.141	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources IUIS Classification December 2026 IUIS Classification February 2018 A- or hypo-gammaglobulinaemia v1.25 London North GLH NHS GMS GRID V2.0 Victorian Clinical Genetics Services North West GLH ESID Registry 20171117 Expert Review Green NHS GMS North West GLH London North GLH IUIS Classification February 2018 Victorian Clinical Genetics Services Expert Review Green ESID Registry 20171117 GRID V2.0 A- or hypo-gammaglobulinaemia v1.25 Phenotypes Immunodeficiency 14A, autosomal dominant, OMIM:615513 Immunodeficiency 14B, autosomal recessive, OMIM:619281 Combined immunodeficiency Activated PI3K-delta syndrome (APDS) Predominantly Antibody Deficiencies Sinopulmonary infections, dysgammaglobulinaemia, lymphadenopathy, nodular lymphoid hyperplasia and herpesviremia Severe bacterial infections
Green PIK3CD in Primary immunodeficiency or monogenic inflammatory bowel disease Version 4.201 Latest signed off version: v4.0 (22 Mar 2023)	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources NHS GMS North West GLH London North GLH IUIS Classification February 2018 Victorian Clinical Genetics Services Expert Review Green ESID Registry 20171117 GRID V2.0 A- or hypo-gammaglobulinaemia v1.25 Phenotypes Immunodeficiency 14A, autosomal dominant, OMIM:615513 Immunodeficiency 14B, autosomal recessive, OMIM:619281 Combined immunodeficiency Activated PI3K-delta syndrome (APDS) Predominantly Antibody Deficiencies Sinopulmonary infections, dysgammaglobulinaemia, lymphadenopathy, nodular lymphoid hyperplasia and herpesviremia Severe bacterial infections
Green PIK3CD in Respiratory ciliopathies including non-CF bronchiectasis Version 3.10 Latest signed off version: v3.0 (22 Mar 2023)	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Phenotypes Immunodeficiency 14A, autosomal dominant, OMIM:615513 Bronchiectasis
Green PIK3CD in Severe Paediatric Disorders Version 1.184	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Next Generation Children Project Expert Review Green Expert list Phenotypes Immunodeficiency 14, 615513