Primary immunodeficiency or monogenic inflammatory bowel disease
Gene: PIK3CGThe 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
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
Two individuals with complex immunological phenotypes reported and a mouse model.
Sources: LiteratureCreated: 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
Tag for-review was removed from gene: PIK3CG.
Source Expert Review Green was added to PIK3CG. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Tag for-review tag was added to gene: PIK3CG.
Gene: pik3cg has been classified as Amber List (Moderate Evidence).
Gene: pik3cg has been classified as Green List (High Evidence).
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