CASP1

caspase 1
OMIM: 147678, ClinGen, DECIPHER

2 panels

Panel Reviews Mode of inheritance Details
2 panels

Red CASP1 in Mendeliome


Version 1.3664

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
  • Literature
Phenotypes
  • Inborn error of immunity, MONDO:0003778, CASP1-related
  • Absent IL18 and lymphopenia but no clinical disease

Red CASP1 in Defects of intrinsic and innate immunity


Level 2: Immunological disorders
Version 1.24

Component of the following Super Panels:

  • Immunological disorders_SuperPanel
  • 1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Literature
    Phenotypes
    • Inborn error of immunity, MONDO:0003778, CASP1-related
    • Absent IL18 and lymphopenia but no clinical disease