RC3H1

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

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Amber RC3H1 in Mendeliome


Version 1.3113

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

Red RC3H1 in Disorders of immune dysregulation


Level 2: Immunological disorders
Version 1.25

Component of the following Super Panels:

  • Immunological disorders_SuperPanel
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Red
    • Literature
    Phenotypes
    • Inborn error of immunity, MONDO:0003778, RC3H1-related

    Amber RC3H1 in Autoinflammatory Disorders


    Level 2: Immunological disorders
    Version 2.17

    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