Susceptibility to Viral Infections
Gene: PLCG2EnsemblGeneIds (GRCh38): ENSG00000197943
EnsemblGeneIds (GRCh37): ENSG00000197943
OMIM: 600220, Gene2Phenotype
PLCG2 is in 6 panels
1 review
Peter McNaughton (Queensland Children's Hospital)
Patients from two unrelated nonconsanguineous families with PLCG2 haploinsufficiency, characterized by herpesvirus infections and reduced NK cell killing. A mouse model of haploinsufficiency was validated by comparing wildtype (Plcg2+/+) and Plcg2+/- mice, NK cell maturation was increased in Plcg2+/- mice, NK1.1-induced calcium flux was attenuated in Plcg2+/- NK cells, NK cell killing of RMA-S target cells was inhibited in Plcg2+/- mice
Sources: LiteratureCreated: 26 Sep 2023, 4:32 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Susceptibility to herpes virus
Publications
- PMID: 37714437
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Phenotypes
-
- Hereditary susceptibility to infections, MONDO:0015979, PLCG2-related
- Susceptibility to herpes virus
- OMIM
- 600220
- Clinvar variants
- Variants in PLCG2
- Penetrance
- None
- Publications
-
- PMID: 37714437
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: plcg2 has been classified as Green List (High Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: PLCG2 were changed from Susceptibility to herpes virus to Hereditary susceptibility to infections, MONDO:0015979, PLCG2-related; Susceptibility to herpes virus
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: plcg2 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Peter McNaughton (Queensland Children's Hospital)gene: PLCG2 was added gene: PLCG2 was added to Susceptibility to Viral Infections. Sources: Literature Mode of inheritance for gene: PLCG2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PLCG2 were set to PMID: 37714437 Phenotypes for gene: PLCG2 were set to Susceptibility to herpes virus Review for gene: PLCG2 was set to GREEN