RC3H1

ring finger and CCCH-type domains 1
OMIM: 609424, Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels

Amber RC3H1 in Mendeliome


Version 1.1902

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Relapsing HLH
  • Hemophagocytic lymphohistiocytosis, familial, 6, MIM# 618998

Amber RC3H1 in Systemic Autoinflammatory Disease_Periodic Fever


Level 2: Immunological disorders
Version 1.47

Component of the following Super Panels:

  • Immunological disorders_SuperPanel
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Relapsing HLH
    • Hemophagocytic lymphohistiocytosis, familial, 6, MIM# 618998