PRKCD

protein kinase C delta
OMIM: 176977, Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels
Green PRKCD in COVID-19 research


Level 2: Viral research
Version 1.146

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • IUIS Classification February 2018
  • London North GLH
  • 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
Phenotypes
  • Recurrent infections, EBV chronic infection, lymphoproliferation, SLE-like autoimmunity (nephrotic and antiphospholipid syndromes), low IgG
  • Autoimmune lymphoproliferative syndrome, type III 615559
  • Diseases of Immune Dysregulation
  • Unclassified antibody deficiency
  • Immunodeficiency, common variable, 9
  • Autoimmune lymphoproliferative syndrome (ALPS)
Green PRKCD in Primary immunodeficiency or monogenic inflammatory bowel disease


Level 2: Immunology
Version 8.78
Latest signed off version: v8.0 (30 Apr 2025)

review BIALLELIC, autosomal or pseudoautosomal
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
Phenotypes
  • Autoimmune lymphoproliferative syndrome, type III 615559
  • Immunodeficiency, common variable, 9
  • Autoimmune lymphoproliferative syndrome (ALPS)
  • Unclassified antibody deficiency
  • Recurrent infections, EBV chronic infection, lymphoproliferation, SLE-like autoimmunity (nephrotic and antiphospholipid syndromes), low IgG
  • Diseases of Immune Dysregulation