Primary immunodeficiency or monogenic inflammatory bowel disease

Gene: RNF31

The following PubMed IDs were added to gene RNF31 (OMIM gene MIM#612487): 26008899. These publications have been associated with the gene by the immunodeficiencies subgroup of the Human Phenotype Ontology Immune Mediated Disorders Consortium (https://hpo-immune-mediated-disorders.groups.io/g/update) in August 2020.

Created: 13 Oct 2020, 9:36 a.m. | Last Modified: 13 Oct 2020, 9:36 a.m.

Panel Version: 2.208

Publications

• 26008899

Comment on list classification: Promoted from Red to Amber based on expert review and evidence of a second case.

Created: 17 Apr 2020, 9:06 a.m. | Last Modified: 17 Apr 2020, 9:06 a.m.

Panel Version: 2.96

I don't know

Second family reported.

Created: 11 Apr 2020, 8:47 a.m. | Last Modified: 11 Apr 2020, 8:47 a.m.

Panel Version: 2.51

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Immune deficiency; Autoinflammation

Publications

• 26008899
• 30936877

Red List (low evidence)

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

Red List (low evidence)

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.

I don't know

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.