SHARPIN

SHANK associated RH domain interactor
OMIM: 611885, Gene2Phenotype

1 panel

Panel Reviews Mode of inheritance Details
1 panel
No list SHARPIN in Primary immunodeficiency or monogenic inflammatory bowel disease


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

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Literature
Phenotypes
  • Autoinflammation
  • Immunodeficiency
  • Recurrent fever
  • Dermatitis
  • Recurrent infections