RC3H1

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

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Amber RC3H1 in Mendeliome


Version 2.0

2 reviews 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 2.0

2 reviews 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 3.0

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