PIK3CD

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

7 panels

Panel Reviews Mode of inheritance Details
7 panels

Green PIK3CD in Non-CF bronchiectasis

Level 3: Respiratory ciliopathies
Level 2: Ciliopathies
Version 1.26

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list

Green PIK3CD in Infantile enterocolitis & monogenic inflammatory bowel disease

Level 3: Gastrointestinal disorders
Level 2: Gastroenterological disorders
Version 1.27

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Expert list
Phenotypes
  • PI3K activation syndrome
  • Immunodeficiency 14 615513

Amber PIK3CD in Gastrointestinal epithelial barrier disorders

Level 3: Gastrointestinal disorders
Level 2: Gastroenterological disorders
Version 1.61

review Not set
Sources
  • Expert Review Amber
  • Expert list

Green PIK3CD in COVID-19 research


Level 2: Viral research
Version 1.80

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
  • Combined immunodeficiency
  • Activated PI3K-delta syndrome (APDS)
  • Unclassified antibody deficiency
  • decreased or absent pro-B cells, EBV
  • Predominantly Antibody Deficiencies
  • sinopulmonary infections, dysgammaglobulinaemia, lymphadenopathy, nodular lymphoid hyperplasia and herpesviremia
  • Severe bacterial infections
  • Immunodeficiency 14,615513

Green PIK3CD in Primary immunodeficiency


Version 2.480
Latest signed off version: v2.1 (24 Feb 2020)

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 14,615513
  • Combined immunodeficiency
  • Unclassified antibody deficiency
  • Activated PI3K-delta syndrome (APDS)
  • sinopulmonary infections, dysgammaglobulinaemia, lymphadenopathy, nodular lymphoid hyperplasia and herpesviremia
  • Severe bacterial infections
  • decreased or absent pro-B cells, EBV
  • Predominantly Antibody Deficiencies
Tags
  • for-review

Green PIK3CD in Respiratory ciliopathies including non-CF bronchiectasis


Version 1.50
Latest signed off version: v1.3 (2 Mar 2020)

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Immunodeficiency 14, 615513
  • Bronchiectasis

Green PIK3CD in Severe Paediatric Disorders


Version 1.84

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Next Generation Children Project
  • Expert Review Green
  • Expert list
Phenotypes
  • Immunodeficiency 14, 615513