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Primary immunodeficiency

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

3 reviews

Arina Puzriakova (Genomics England Curator)

The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Created: 4 Mar 2022, 10:17 a.m. | Last Modified: 4 Mar 2022, 10:17 a.m.
Panel Version: 2.529
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 Green
Phenotypes
  • 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

4 Mar 2022, Gel status: 3

Removed Tag

Arina Puzriakova (Genomics England Curator)

Tag for-review was removed from gene: PIK3CG.

4 Mar 2022, Gel status: 3

Added New Source, Status Update

Arina Puzriakova (Genomics England Curator)

Source Expert Review Green was added to PIK3CG. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

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