CASP8

caspase 8
OMIM: 601763, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels
Green CASP8 in COVID-19 research


Level 2: Viral research
Version 1.141

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • IUIS Classification February 2018
  • 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
Phenotypes
  • Caspase-8 deficiency state
  • Immunodeficiency due to CASP8 deficiency
  • CEDS
  • ?Autoimmune lymphoproliferative syndrome, type IIB, 607271
  • Diseases of Immune Dysregulation
  • Caspase 8 deficiency
  • Autoimmune lymphoproliferative syndrome (ALPS)
  • Adenopathies, splenomegaly, bacterial and viral infections, hypogammaglobulinemia
Green CASP8 in Primary immunodeficiency or monogenic inflammatory bowel disease


Version 4.191
Latest signed off version: v4.0 (22 Mar 2023)

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
  • GOSH PID v.8.0
Phenotypes
  • Caspase-8 deficiency state
  • CEDS
  • Immunodeficiency due to CASP8 deficiency
  • Caspase 8 deficiency
  • Autoimmune lymphoproliferative syndrome (ALPS)
  • ?Autoimmune lymphoproliferative syndrome, type IIB, 607271
  • Adenopathies, splenomegaly, bacterial and viral infections, hypogammaglobulinemia
  • Diseases of Immune Dysregulation
Amber CASP8 in Severe Paediatric Disorders


Version 1.182

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Next Generation Children Project
  • Expert Review Amber
  • Expert list
Phenotypes
  • ?Autoimmune lymphoproliferative syndrome, type IIB, 607271