Primary immunodeficiency or monogenic inflammatory bowel disease

Gene: TNFRSF4

The following PubMed IDs were added to gene TNFRSF4 (OMIM gene MIM#600315): 23897980. 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

• 23897980

Red List (low evidence)

single patient described

Created: 29 Jun 2018, 3:43 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, 2:08 p.m.

OriginaI Metadata from IUIS classification table (February, 2018) downloaded 20180614. IUIS Genetic defect (original gene symbol in IUIS download): TNFRSF4 .PanelApp HGNC gene symbol check: TNFRSF4 . IUIS Disease: OX40 deficiency . IUIS Inheritance: AR .T cells: N/A, .B cells: Nl numbers, low memory B cells, .IUIS Other affected cells: N/A. IUIS Associated features: Impaired immunity to HHV8, Kaposis sarcoma. IUIS Major category: Immunodeficiencies affecting cellular and humoral immunity. IUIS Subcategory: Combined Immunodeficiencies Generally Less Profound than Severe Combined Immunodeficiency

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, 11:51 a.m.

Original metadata downloaded from ESID Registry. ESID_Gene_original: OX40, PanelApp HGNC gene symbol check: TNFRSF4, ESID classification: Main_category/ Sub_category/ PID_Diagnosis Combined immunodeficiencies / Combined immunodeficiency (CID) / Combined immunodeficiency

Created: 17 Apr 2018, 12:29 p.m.

Original metadata supplied by GRID. GRID Gene Symbol HGNC PanelApp check: TNFRSF4, GRID_Gene_Symbol: TNFRSF4, GRID_Transcript_ENS_Community submitted: ENST00000379236, GRID_Transcript_RefSeq: NM_003327.3, GRID_Transcript_ENS_used_on_Production: ENST00000379236

Created: 17 Apr 2018, 12:12 p.m.