CASP8

caspase 8
OMIM: 601763, ClinGen, DECIPHER

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Green CASP8 in Mendeliome


Version 2.0

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Autoimmune lymphoproliferative syndrome, type IIB MIM#607271
Tags
  • founder

Green CASP8 in Disorders of immune dysregulation


Level 2: Immunological disorders
Version 2.0

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Autoimmune lymphoproliferative syndrome, type IIB MIM#607271
Tags
  • founder

Green CASP8 in Hereditary Neuropathy


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Autoimmune lymphoproliferative syndrome, type IIB MIM#607271

Green CASP8 in Autoimmune Lymphoproliferative Syndrome


Level 2: Immunological disorders
Version 2.0

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Autoimmune lymphoproliferative syndrome, type IIB MIM#607271