1. Panels
  2. Common Variable Immunodeficiency
  3. PLCG2
STRs in panel
Prev Next
Regions in panel
Prev Next

Common Variable Immunodeficiency

Gene: PLCG2

Green List (high evidence)
PLCG2 (phospholipase C gamma 2)
EnsemblGeneIds (GRCh38): ENSG00000197943
EnsemblGeneIds (GRCh37): ENSG00000197943
OMIM: 600220, Gene2Phenotype
PLCG2 is in 6 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

7 cases from 5 unrelated families reported with a clinical diagnosis of CVID or hypogammaglobulinemia and heterozygous gain-of-function nonsynonymous variants.
Sources: Literature
Created: 23 Jul 2020, 2:37 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Common variable immunodeficiency; Autoinflammation, antibody deficiency, and immune dysregulation syndrome MIM#614878

Publications

Mode of pathogenicity
Other

Created: 23 Jul 2020, 2:37 a.m.

Panel version: 0.83

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Common variable immunodeficiency
  • Autoinflammation, antibody deficiency, and immune dysregulation syndrome MIM#614878
OMIM
600220
Clinvar variants
Variants in PLCG2
Penetrance
None
Publications
Mode of Pathogenicity
Other
Panels with this gene

History Filter Activity

23 Jul 2020, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: plcg2 has been classified as Green List (High Evidence).

23 Jul 2020, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: plcg2 has been classified as Green List (High Evidence).

23 Jul 2020, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

gene: PLCG2 was added gene: PLCG2 was added to Common Variable Immunodeficiency. Sources: Literature Mode of inheritance for gene: PLCG2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PLCG2 were set to 31853824; 32671674; 22236196 Phenotypes for gene: PLCG2 were set to Common variable immunodeficiency; Autoinflammation, antibody deficiency, and immune dysregulation syndrome MIM#614878 Mode of pathogenicity for gene: PLCG2 was set to Other Review for gene: PLCG2 was set to GREEN