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Primary immunodeficiency

Gene: PIK3CG

Amber List (moderate 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

3 reviews

Arina Puzriakova (Genomics England Curator)

Comment on list classification: Changed rating from Green to Amber so that Green genes on this panel reflect the NHS signed-off version. This will be reviewed at the next GMS panel update (added 'for-review' tag).
Created: 20 Oct 2020, 3:11 p.m. | Last Modified: 20 Oct 2020, 3:11 p.m.
Panel Version: 2.344

Ivone Leong (Genomics England Curator)

Comment on list classification: Gene added by Zornitza Stark (Australian Genomics) with recommended Green status based on provided evidence. There is enough evidence for this gene to be rated Green.
Created: 5 May 2020, 11 a.m. | Last Modified: 5 May 2020, 11 a.m.
Panel Version: 2.151

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Two individuals with complex immunological phenotypes reported and a mouse model.
Sources: Literature
Created: 30 Apr 2020, 10:31 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Immune dysregulation; HLH-like; childhood-onset antibody defects; cytopenias; T lymphocytic pneumonitis and colitis

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Immune dysregulation
  • HLH-like
  • childhood-onset antibody defects
  • cytopenias
  • T lymphocytic pneumonitis and colitis
Tags
for-review
OMIM
601232
Clinvar variants
Variants in PIK3CG
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 Oct 2020, Gel status: 2

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag for-review tag was added to gene: PIK3CG.

20 Oct 2020, Gel status: 2

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: pik3cg has been classified as Amber List (Moderate Evidence).

5 May 2020, Gel status: 3

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

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

30 Apr 2020, Gel status: 0

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

Zornitza Stark (Australian Genomics)

gene: PIK3CG was added gene: PIK3CG was added to Primary immunodeficiency. 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