Primary immunodeficiency or monogenic inflammatory bowel disease
Gene: RNF31The 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
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
Almost certainly a disease gene but only a single case so far reportedCreated: 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 probandCreated: 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 OrphanetCreated: 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 featuresCreated: 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: ENST00000324103Created: 17 Apr 2018, 12:12 p.m.
Source Other was added to RNF31. Publications for gene RNF31 were updated from 32048120; 26008899; 32086639; 30936877 to 30936877; 32086639; 26008899; 32048120
Gene: rnf31 has been classified as Amber List (Moderate Evidence).
Publications for gene: RNF31 were set to 32048120; 26008899; 32086639
Source IUIS Classification December 2019 was added to RNF31. Added phenotypes Bacterial infections, autoinflammation, amylopectinosis, lymphangiectasia; Combined immunodeficiencies with associated or syndromic features for gene: RNF31 Publications for gene RNF31 were updated from 26008899 to 32048120; 26008899; 32086639
2018-07-12 Louise Daugherty (Genomics England Curator) promoted panel to v1.0. Reviews were assessed, and panel was revised according to expert reviews and further in-house curation based on PanelApp guidelines. Previous panels (A- or hypo-gammaglobulinaemia, Congenital neutropaenia, Agranulocytosis, Combined B and T cell defect, Inherited complement deficiency and SCID panels) that were merged with this panel, were checked again for any changes/new reviews prior to versioning of this panel, these merged panels are now retired/made internal.
Gene: rnf31 has been classified as Red List (Low Evidence).
Gene: rnf31 has been classified as Red List (Low Evidence).
Phenotypes for gene: RNF31 were set to Polyglucosan body myopathy, early-onset, with or without immunodeficiency; autoinflammation and combined immunodeficiency; Bacterial infections, autoinflammation, amylopectinosis, lymphangiectasia; Combined immunodeficiencies with associated or syndromic features; Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis
Phenotypes for gene RNF31 were set to Polyglucosan body myopathy, early-onset, with or without immunodeficiency, autoinflammation and combined immunodeficiency, Bacterial infections, autoinflammation, amylopectinosis, lymphangiectasia, Combined immunodeficiencies with associated or syndromic features
IUIS Classification February 2018 was added to RNF31. Panel: Primary immunodeficiency disorders
Victorian Clinical Genetics Services was added to RNF31. Panel: Primary immunodeficiency disorders
Mode of inheritance for gene: RNF31 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RNF31 were set to Polyglucosan body myopathy, early-onset, with or without immunodeficiency; autoinflammation and combined immunodeficiency
Publications for gene: RNF31 were set to 26008899
This gene has been classified as Amber List (Moderate Evidence).
Phenotypes for gene RNF31 were set to Polyglucosan body myopathy, early-onset, with or without immunodeficiency
RNF31 was added to Primary immunodeficiency disorders panel. Sources: GRID V2.0
RNF31 was created by Louise Daugherty