PIK3CD

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

7 panels

Panel Reviews Mode of inheritance Details
7 panels

Amber PIK3CD in Ciliary Dyskinesia


Level 2: Respiratory disorders
Version 1.39

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • Expert list
Phenotypes
  • Immunodeficiency 14 615513

Green PIK3CD in Inflammatory bowel disease


Level 2: Gastroenterological disorders
Version 0.121

Component of the following Super Panels:

  • Immunological disorders_SuperPanel
  • review Unknown
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green

    Green PIK3CD in Mendeliome


    Version 1.1902

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Immunodeficiency 14B, autosomal recessive, MIM# 619281
    • Immunodeficiency 14A, autosomal dominant, MIM# 615513

    Green PIK3CD in Predominantly Antibody Deficiency


    Level 2: Immunological disorders
    Version 0.135

    Component of the following Super Panels:

  • Immunological disorders_SuperPanel
  • review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Melbourne Genomics Health Alliance Immunology Flagship
    • Victorian Clinical Genetics Services
    Phenotypes
    • Immunodeficiency 14, MIM# 615513

    Green PIK3CD in Common Variable Immunodeficiency


    Level 2: Immunological disorders
    Version 1.12

    Component of the following Super Panels:

  • Immunological disorders_SuperPanel
  • review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Melbourne Genomics Health Alliance Immunology Flagship
    • Victorian Clinical Genetics Services
    Phenotypes
    • Immunodeficiency 14B, autosomal recessive, MIM# 619281
    • Immunodeficiency 14A, autosomal dominant, MIM# 615513

    Green PIK3CD in Additional findings_Paediatric


    Level 2: Screening
    Version 0.278

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Immunodeficiency 14, MIM # 615513

    Green PIK3CD in BabyScreen+ newborn screening


    Level 2: Screening
    Version 1.114

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Immunodeficiency 14B, autosomal recessive, MIM# 619281
    • Immunodeficiency 14A, autosomal dominant, MIM# 615513
    Tags
    • treatable
    • immunological