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Primary immunodeficiency

Gene: RNF31

Amber List (moderate evidence)

RNF31 (ring finger protein 31)
EnsemblGeneIds (GRCh38): ENSG00000092098
EnsemblGeneIds (GRCh37): ENSG00000092098
OMIM: 612487, Gene2Phenotype
RNF31 is in 3 panels

6 reviews

Eleanor Williams (Genomics England Curator)

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

Ivone Leong (Genomics England Curator)

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

Zornitza Stark (Australian Genomics)

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

Sophie Hambleton (Newcastle University)

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

Sarah Leigh (Genomics England Curator)

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.

Louise Daugherty (Genomics England Curator)

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.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Other
  • Expert Review Amber
  • IUIS Classification December 2019
  • IUIS Classification February 2018
  • Victorian Clinical Genetics Services
  • GRID V2.0
Phenotypes
  • Bacterial infections, autoinflammation, amylopectinosis, lymphangiectasia
  • Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis
  • Polyglucosan body myopathy, early-onset, with or without immunodeficiency
  • autoinflammation and combined immunodeficiency
  • Combined immunodeficiencies with associated or syndromic features
OMIM
612487
Clinvar variants
Variants in RNF31
Penetrance
None
Publications
Panels with this gene

History Filter Activity

13 Oct 2020, Gel status: 2

Added New Source, Set publications

Eleanor Williams (Genomics England Curator)

Source Other was added to RNF31. Publications for gene RNF31 were updated from 32048120; 26008899; 32086639; 30936877 to 30936877; 32086639; 26008899; 32048120

17 Apr 2020, Gel status: 2

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: rnf31 has been classified as Amber List (Moderate Evidence).

17 Apr 2020, Gel status: 1

Set publications

Ivone Leong (Genomics England Curator)

Publications for gene: RNF31 were set to 32048120; 26008899; 32086639

28 Feb 2020, Gel status: 1

Added New Source, Set Phenotypes, Set publications

Louise Daugherty (Genomics England Curator)

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

12 Jul 2018, Gel status: 1

Panel promoted to version 1.0

Louise Daugherty (Genomics England Curator)

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.

5 Jul 2018, Gel status: 1

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Gene: rnf31 has been classified as Red List (Low Evidence).

5 Jul 2018, Gel status: 1

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Gene: rnf31 has been classified as Red List (Low Evidence).

5 Jul 2018, Gel status: 2

Set Phenotypes

Louise Daugherty (Genomics England Curator)

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

1 Jul 2018, Gel status: 2

Set penetrance

Louise Daugherty (Genomics England Curator)

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

26 Jun 2018, Gel status: 2

Added New Source

Louise Daugherty (Genomics England Curator)

IUIS Classification February 2018 was added to RNF31. Panel: Primary immunodeficiency disorders

26 Jun 2018, Gel status: 2

Added New Source

Louise Daugherty (Genomics England Curator)

Victorian Clinical Genetics Services was added to RNF31. Panel: Primary immunodeficiency disorders

5 Jun 2018, Gel status: 2

Set mode of inheritance

Sarah Leigh (Genomics England Curator)

Mode of inheritance for gene: RNF31 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

5 Jun 2018, Gel status: 2

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: RNF31 were set to Polyglucosan body myopathy, early-onset, with or without immunodeficiency; autoinflammation and combined immunodeficiency

5 Jun 2018, Gel status: 2

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: RNF31 were set to 26008899

19 Apr 2018, Gel status: 2

Gene classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

17 Apr 2018, Gel status: 1

Set penetrance

Louise Daugherty (Genomics England Curator)

Phenotypes for gene RNF31 were set to Polyglucosan body myopathy, early-onset, with or without immunodeficiency

17 Apr 2018, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

RNF31 was added to Primary immunodeficiency disorders panel. Sources: GRID V2.0

17 Apr 2018, Gel status: 1

Created

Louise Daugherty (Genomics England Curator)

RNF31 was created by Louise Daugherty