Gene Symbol:
PLCG2
HGNC:9066
Locus Group:
protein-coding gene
Locus Type:
gene with protein product
Location:
16q24.1
Filters:

Strong classifications

autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation
Submitted as: OMIM:614878
AD
09/19/2023
Evaluated
11/30/2023
Submitted
familial cold autoinflammatory syndrome 3
Submitted as: OMIM:614468
AD
08/30/2021
Evaluated
11/30/2023
Submitted

Supportive classifications

familial cold autoinflammatory syndrome 3
Submitted as: Orphanet:300359
AD
09/14/2021
Evaluated
09/14/2021
Submitted
autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation
Submitted as: Orphanet:324530
AD
09/14/2021
Evaluated
09/14/2021
Submitted

Limited classifications

autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation
Submitted as: OMIM:614878
AD
07/22/2015
Evaluated
09/11/2023
Submitted
familial cold autoinflammatory syndrome 3
Submitted as: OMIM:614468
AD
07/22/2015
Evaluated
09/11/2023
Submitted

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