Primary immunodeficiency or monogenic inflammatory bowel disease
Gene: TNFRSF4The 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
single patient describedCreated: 29 Jun 2018, 3:43 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 GRIDCreated: 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 ImmunodeficiencyCreated: 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 immunodeficiencyCreated: 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: ENST00000379236Created: 17 Apr 2018, 12:12 p.m.
Source Other was added to TNFRSF4. Publications for gene TNFRSF4 were updated from 32048120; 32086639 to 32086639; 23897980; 32048120
Source IUIS Classification December 2019 was added to TNFRSF4. Added phenotypes Impaired immunity to HHV8, Kaposis sarcoma; Immunodeficiencies affecting cellular and humoral immunity for gene: TNFRSF4 Publications for gene TNFRSF4 were updated from to 32048120; 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: tnfrsf4 has been classified as Red List (Low Evidence).
Gene: tnfrsf4 has been classified as Red List (Low Evidence).
Phenotypes for gene TNFRSF4 were set to Kaposi's Sarcoma, impaired immunity to HHV8, OX40 deficiency, Combined immunodeficiency, Impaired immunity to HHV8, Kaposis sarcoma, Immunodeficiencies affecting cellular and humoral immunity
IUIS Classification February 2018 was added to TNFRSF4. Panel: Primary immunodeficiency disorders
Victorian Clinical Genetics Services was added to TNFRSF4. Panel: Primary immunodeficiency disorders
This gene has been classified as Amber List (Moderate Evidence).
ESID Registry 20171117 was added to TNFRSF4. Panel: Primary immunodeficiency disorders Phenotypes for gene TNFRSF4 were set to Kaposi's Sarcoma, impaired immunity to HHV8, OX40 deficiency, Combined immunodeficiency
Phenotypes for gene TNFRSF4 were set to Kaposi's Sarcoma, impaired immunity to HHV8, OX40 deficiency
TNFRSF4 was added to Primary immunodeficiency disorders panel. Sources: GRID V2.0
TNFRSF4 was created by Louise Daugherty