RNF31

ring finger protein 31
OMIM: 612487, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels
Green RNF31 in COVID-19 research


Level 2: Viral research
Version 1.147

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • IUIS Classification February 2018
  • IUIS Classification December 2019
  • GRID V2.0
  • Victorian Clinical Genetics Services
  • IUIS Classification December 2019
  • IUIS Classification February 2018
  • Victorian Clinical Genetics Services
  • GRID V2.0
Phenotypes
  • Polyglucosan body myopathy, early-onset, with or without immunodeficiency
  • Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis
  • autoinflammation and combined immunodeficiency
  • Combined immunodeficiencies with associated or syndromic features
  • Bacterial infections, autoinflammation, amylopectinosis, lymphangiectasia
Amber RNF31 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 Review Amber
  • Other
  • IUIS Classification December 2019
  • IUIS Classification February 2018
  • Victorian Clinical Genetics Services
  • GRID V2.0
Phenotypes
  • Immunodeficiency 115 with autoinflammation, OMIM:620632
  • immunodeficiency 115 with autoinflammation, MONDO:0957981
Tags
  • Q2_26_promote_green
Red RNF31 in Fetal anomalies


Level 2: Fetal (including NIPD)
Version 7.10
Latest signed off version: v7.0 (6 May 2026)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Immunodeficiency 115 with autoinflammation
Amber RNF31 in Autoinflammatory disorders


Level 2: Immunology
Version 3.9
Latest signed off version: v3.0 (6 May 2026)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Immunodeficiency 115 with autoinflammation, OMIM:620632
  • immunodeficiency 115 with autoinflammation, MONDO:0957981
Tags
  • Q2_26_promote_green