SHARPIN

SHANK associated RH domain interactor
OMIM: 611885, Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels
Amber SHARPIN in Primary immunodeficiency or monogenic inflammatory bowel disease


Level 2: Immunology
Version 9.102
Latest signed off version: v9.91 (12 Aug 2026)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert list
  • Literature
Phenotypes
  • Autoinflammation with episodic fever and immune dysregulation, OMIM:620795
  • autoinflammation with episodic fever and immune dysregulation, MONDO:0968982
Tags
  • Q3_26_promote_green
Amber SHARPIN in Autoinflammatory disorders


Level 2: Immunology
Version 3.21
Latest signed off version: v3.16 (12 Aug 2026)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
  • Expert list
  • Expert Review Amber
Phenotypes
  • Autoinflammation with episodic fever and immune dysregulation, OMIM:620795
  • autoinflammation with episodic fever and immune dysregulation, MONDO:0968982
Tags
  • Q3_26_promote_green