1. Genes and Genomic Entities
  2. PLCG1

PLCG1

phospholipase C gamma 1
OMIM: 172420, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels
Amber PLCG1 in Primary immunodeficiency or monogenic inflammatory bowel disease


Level 2: Immunology
Version 9.9
Latest signed off version: v9.0 (6 May 2026)

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • ?Immune dysregulation, autoimmunity, and autoinflammation, OMIM:620514
  • immune dysregulation, autoimmunity, and autoinflammation, MONDO:0957790
Tags
  • Q2_26_promote_green
Amber PLCG1 in Monogenic hearing loss


Level 2: Audiology
Version 6.10
Latest signed off version: v6.0 (6 May 2026)

Component of the following Super Panels:

  • Paediatric disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • ?Immune dysregulation, autoimmunity, and autoinflammation, OMIM:620514
    • immune dysregulation, autoimmunity, and autoinflammation, MONDO:0957790
    • hearing loss disorder, MONDO:0005365
    Tags
    • Q2_26_promote_green
    Amber PLCG1 in Autoinflammatory disorders


    Level 2: Immunology
    Version 3.7
    Latest signed off version: v3.0 (6 May 2026)

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • ?Immune dysregulation, autoimmunity, and autoinflammation, OMIM:620514
    • immune dysregulation, autoimmunity, and autoinflammation, MONDO:0957790
    Tags
    • Q2_26_promote_green