Cataract
Gene: PLCG2
PLCG2 (phospholipase C gamma 2)
EnsemblGeneIds (GRCh38): ENSG00000197943
EnsemblGeneIds (GRCh37): ENSG00000197943
OMIM: 600220, Gene2Phenotype
PLCG2 is in 6 panels
EnsemblGeneIds (GRCh38): ENSG00000197943
EnsemblGeneIds (GRCh37): ENSG00000197943
OMIM: 600220, Gene2Phenotype
PLCG2 is in 6 panels
1 review
Bryony Thompson (Royal Melbourne Hospital)
A single case reported with cataracts as a feature of the condition. Gain of function missense variants appear to be the cause of this condition.Created: 15 Apr 2020, 3:11 a.m. | Last Modified: 15 Apr 2020, 3:11 a.m.
Panel Version: 0.119
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Autoinflammation, antibody deficiency, and immune dysregulation syndrome MIM#614878
Publications
Mode of pathogenicity
Other
Details
- Mode of Inheritance
- Unknown
- Sources
-
- Expert Review Red
- Victorian Clinical Genetics Services
- OMIM
- 600220
- Clinvar variants
- Variants in PLCG2
- Penetrance
- None
- Panels with this gene
History Filter Activity
15 Apr 2020, Gel status: 1
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: plcg2 has been classified as Red List (Low Evidence).
15 Apr 2020, Gel status: 1
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: plcg2 has been classified as Red List (Low Evidence).
17 Nov 2019, Gel status: 3
Created, Added New Source, Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: PLCG2 was added gene: PLCG2 was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: PLCG2 was set to Unknown