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  3. PIK3CG
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Autoinflammatory Disorders

Gene: PIK3CG

Green List (high evidence)
PIK3CG (phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma)
EnsemblGeneIds (GRCh38): ENSG00000105851
EnsemblGeneIds (GRCh37): ENSG00000105851
OMIM: 601232, Gene2Phenotype
PIK3CG is in 3 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Two individuals with complex immunological phenotypes reported and a mouse model.
Sources: Literature
Created: 30 Apr 2020, 10:28 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Immunodeficiency 97 with autoinflammation, MIM# 619802; Immune dysregulation; HLH-like; childhood-onset antibody defects; cytopenias; T lymphocytic pneumonitis and colitis

Publications

Created: 30 Apr 2020, 10:28 p.m.

Panel version: 0.140

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Immunodeficiency 97 with autoinflammation, MIM# 619802
  • Immune dysregulation
  • HLH-like
  • childhood-onset antibody defects
  • cytopenias
  • T lymphocytic pneumonitis and colitis
OMIM
601232
Clinvar variants
Variants in PIK3CG
Penetrance
None
Publications
Panels with this gene

History Filter Activity

6 Apr 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: PIK3CG were changed from Immune dysregulation; HLH-like; childhood-onset antibody defects; cytopenias; T lymphocytic pneumonitis and colitis to Immunodeficiency 97 with autoinflammation, MIM# 619802; Immune dysregulation; HLH-like; childhood-onset antibody defects; cytopenias; T lymphocytic pneumonitis and colitis

30 Apr 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: pik3cg has been classified as Green List (High Evidence).

30 Apr 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: pik3cg has been classified as Green List (High Evidence).

30 Apr 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: PIK3CG was added gene: PIK3CG was added to Systemic Autoinflammatory Disease_Periodic Fever. Sources: Literature Mode of inheritance for gene: PIK3CG was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PIK3CG were set to 32001535; 31554793 Phenotypes for gene: PIK3CG were set to Immune dysregulation; HLH-like; childhood-onset antibody defects; cytopenias; T lymphocytic pneumonitis and colitis Review for gene: PIK3CG was set to GREEN