PLCG2

phospholipase C gamma 2
OMIM: 600220, Gene2Phenotype

6 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 6 panels
Amber PLCG2 in Infantile enterocolitis & monogenic inflammatory bowel disease Level 3: Gastrointestinal disorders Level 2: Gastroenterological disorders Version 1.45	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Radboud University Medical Center, Nijmegen UKGTN Expert list Phenotypes Autoinflammation, antibody deficiency, and immune dysregulation syndrome, OMIM:614878
Amber PLCG2 in Gastrointestinal epithelial barrier disorders Level 3: Gastrointestinal disorders Level 2: Gastroenterological disorders Version 1.76	review	Not set	Sources Expert Review Amber UKGTN Phenotypes Autoinflammation, antibody deficiency, and immune dysregulation syndrome, OMIM:614878
Green PLCG2 in COVID-19 research Level 2: Viral research Version 1.146	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources IUIS Classification February 2018 A- or hypo-gammaglobulinaemia v1.25 London North GLH GOSH PID v.8.0 NHS GMS GRID V2.0 Victorian Clinical Genetics Services North West GLH ESID Registry 20171117 Expert Review Green NHS GMS North West GLH London North GLH IUIS Classification February 2018 Victorian Clinical Genetics Services Expert Review Green ESID Registry 20171117 GRID V2.0 GOSH PID v.8.0 A- or hypo-gammaglobulinaemia v1.25 Phenotypes Autoinflammation, antibody deficiency, and immune dysregulation syndrome, OMIM:614878 Familial cold autoinflammatory syndrome 3, OMIM:614468 Hypogammaglobulinaemia, cold induced urticaria, autoinflammatory
Green PLCG2 in Primary immunodeficiency or monogenic inflammatory bowel disease Level 2: Immunology Version 8.78 Latest signed off version: v8.0 (30 Apr 2025)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Other NHS GMS North West GLH London North GLH IUIS Classification February 2018 Victorian Clinical Genetics Services ESID Registry 20171117 GRID V2.0 GOSH PID v.8.0 A- or hypo-gammaglobulinaemia v1.25 Phenotypes Autoinflammation, antibody deficiency, and immune dysregulation syndrome, OMIM:614878 Familial cold autoinflammatory syndrome 3, OMIM:614468 Hypogammaglobulinaemia, cold induced urticaria, autoinflammatory
Red PLCG2 in DDG2P Version 6.424 Latest signed off version: v6.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Red Phenotypes Autoinflammation, antibody deficiency, and immune dysregulation syndrome, OMIM:614878 Familial cold autoinflammatory syndrome 3, OMIM:614468
Green PLCG2 in Autoinflammatory disorders Level 2: Immunology Version 2.35 Latest signed off version: v2.0 (1 May 2024)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources NHS GMS Expert Review Green Phenotypes Autoinflammation, antibody deficiency, and immune dysregulation syndrome, OMIM:614878 Familial cold autoinflammatory syndrome 3, OMIM:614468