1. Panels
  2. Predominantly Antibody Deficiency
  3. PIK3CG
STRs in panel
Prev Next
Regions in panel
Prev Next

Predominantly Antibody Deficiency

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

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Immunodeficiency 97 with autoinflammation, MIM# 619802

Created: 13 Jul 2022, 9:03 a.m.
Last Modified: 13 Jul 2022, 9:03 a.m.
Panel version: 0.110

Peter McNaughton (Queensland Children's Hospital)

I don't know

Included in IUIS 2022 update predominantly antibody deficiency.
PMID: 31554793 female patient presented with haemolytic anaemia, pulmonary impairment and hypogammaglobulinaemia.
Sources: Literature
Created: 12 Jul 2022, 5:43 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Humoral deficiency; Immune dysregulation; HLH

Publications

Created: 12 Jul 2022, 5:43 a.m.

Panel version: 0.110

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Immunodeficiency 97 with autoinflammation, MIM# 619802
  • Humoral deficiency
  • Immune dysregulation
  • HLH
OMIM
601232
Clinvar variants
Variants in PIK3CG
Penetrance
None
Publications
Panels with this gene

History Filter Activity

13 Jul 2022, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

13 Jul 2022, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: PIK3CG were changed from Humoral deficiency; Immune dysregulation; HLH to Immunodeficiency 97 with autoinflammation, MIM# 619802; Humoral deficiency; Immune dysregulation; HLH

13 Jul 2022, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

12 Jul 2022, Gel status: 0

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

Peter McNaughton (Queensland Children's Hospital)

gene: PIK3CG was added gene: PIK3CG was added to Predominantly Antibody Deficiency. Sources: Literature Mode of inheritance for gene: PIK3CG was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PIK3CG were set to PMID: 31554793; PMID: 33054089 Phenotypes for gene: PIK3CG were set to Humoral deficiency; Immune dysregulation; HLH Review for gene: PIK3CG was set to AMBER