COVID-19 researchGene: RNF31
Almost certainly a disease gene but only a single case so far reported
Created: 29 Jun 2018, 3:20 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Not associated with phenotype in OMIM or in Gen2Phen. Single variant reported in one case of autoinflammation, combined immunodeficiency, subclinical amyelopectinosis, and systemic lymphangiectasia, supportive functional studies were presented (PMID 26008899).
Created: 5 Jun 2018, 4:27 p.m.
Comment on mode of inheritance: From report in PMID 26008899 of single homozygous variant found in proband
Created: 5 Jun 2018, 4:21 p.m.
Comment on list classification: Changed from Amber to Red until more info to support gene-disease association. Currently only one case reported in literature. Request evidences / immunological association of this gene from Victorian Clinical Genetics Services and GRID.
Created: 5 Jul 2018, 12:10 p.m.
Comment on phenotypes: added phenotype from Orphanet
Created: 5 Jul 2018, 11:52 a.m.
RNF31 gene symbol synonym is HOIP. Component of LUBAC complex (as HOIP) - regulation immunity signalling.
Created: 5 Jul 2018, 11:46 a.m.
OriginaI Metadata from IUIS classification table (February, 2018) downloaded 20180614. IUIS Genetic defect (original gene symbol in IUIS download): HOIP1 (RNF31) .PanelApp HGNC gene symbol check: RNF31 . IUIS Disease: HOIP deficiency . IUIS Inheritance: AR .T cells: N/A, .B cells: Normal, decreased memory B cells, .IUIS Other affected cells: N/A. IUIS Associated features: Bacterial infections, autoinflammation, amylopectinosis, lymphangiectasia. IUIS Major category: Combined immunodeficiencies with associated or syndromic features. IUIS Subcategory: Other Combined immunodeficiencies with associated or syndromic features
Created: 2 Jul 2018, 10:35 a.m.
This gene was absent from the original PanelApp PID panel dataset (review April 2018). However it was listed in external expert immunodeficiency diagnostic gene list(s)
GOSH or GRID. In this combined PID panel, this gene has been rated as AMBER and needs further curational review to assess pertinence prior to v1.
Created: 19 Apr 2018, 3:38 p.m.
Original metadata supplied by GRID. GRID Gene Symbol HGNC PanelApp check: RNF31, GRID_Gene_Symbol: RNF31, GRID_Transcript_ENS_Community submitted: ENST00000324103, GRID_Transcript_RefSeq: NM_017999.4, GRID_Transcript_ENS_used_on_Production: ENST00000324103
Created: 17 Apr 2018, 12:12 p.m.
Source Expert Review Green was added to RNF31. Added 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 for gene: RNF31 Rating Changed from Red List (low evidence) to Green List (high evidence)
gene: RNF31 was added gene: RNF31 was added to Viral susceptibility. Sources: Victorian Clinical Genetics Services,GRID V2.0,IUIS Classification December 2019,Expert Review Red,IUIS Classification February 2018 Mode of inheritance for gene: RNF31 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RNF31 were set to 32086639; 32048120; 26008899 Phenotypes for gene: RNF31 were set to 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