Primary immunodeficiency or monogenic inflammatory bowel disease
Gene: TNFRSF11AOK for amberCreated: 23 Oct 2019, 7:13 a.m. | Last Modified: 23 Oct 2019, 7:13 a.m.
Panel Version: 1.132
agree with all the Amber genesCreated: 25 Sep 2019, 1:49 p.m. | Last Modified: 25 Sep 2019, 1:49 p.m.
Panel Version: 1.115
The amber genes are covered on our targeted exome, we feel that these should be covered in the testingCreated: 25 Sep 2019, 1:44 p.m. | Last Modified: 25 Sep 2019, 1:44 p.m.
Panel Version: 1.114
Osteopetrosis (AR) - green association, reported to have hypogammaglobulinaemia - presume a feasible presentation in immunology?Created: 26 Sep 2019, 4 p.m. | Last Modified: 26 Sep 2019, 4 p.m.
Panel Version: 1.130
Comment on list classification: Changed rating from Red to Amber to reflect the agreed rating agreed by the GMS Immunology Specialist Test GroupCreated: 26 Sep 2019, 10:58 a.m. | Last Modified: 26 Sep 2019, 10:58 a.m.
Panel Version: 1.124
Gene rating submitted by Tracy Briggs, David Gokhale and Abigal Rousseau on behalf of North West GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email on 20th June the Specialist Test Group all agreed there is only enough evidence to rate this gene Amber.Created: 25 Sep 2019, 3 p.m. | Last Modified: 25 Sep 2019, 3 p.m.
Panel Version: 1.116
Gene rating submitted by Kimberly Gilmour and Austen Worth on behalf of London North GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email 6th September the Specialist Test Group all agreed there is only enough evidence to rate this gene AmberCreated: 25 Sep 2019, 3 p.m. | Last Modified: 25 Sep 2019, 3 p.m.
Panel Version: 1.116
OriginaI Metadata from IUIS classification table (February, 2018) downloaded 20180614. IUIS Genetic defect (original gene symbol in IUIS download): TNFRSF11A .PanelApp HGNC gene symbol check: TNFRSF11A . IUIS Disease: TNFRSF11A deficiency associated osteopetrosis . IUIS Inheritance: AR .T cells: N/A, .B cells: N/A, .IUIS Other affected cells: Osteoclasts. IUIS Associated features: Osteopetrosis. IUIS Major category: Defects in Intrinsic and Innate Immunity. IUIS Subcategory: Other Inborn Errors of Immunity Related to Non-Hematopoietic TissuesCreated: 6 Jul 2018, 12:24 p.m.
Source IUIS Classification December 2019 was added to TNFRSF11A. Added phenotypes Osteopetrosis; Defects in intrinsic and innate immunity for gene: TNFRSF11A Publications for gene TNFRSF11A were updated from to 32048120; 32086639
Gene: tnfrsf11a has been classified as Amber List (Moderate Evidence).
Source North West GLH was added to TNFRSF11A.
Source London North GLH was added to TNFRSF11A.
Source NHS GMS was added to TNFRSF11A.
Mode of inheritance for gene: TNFRSF11A was changed from to BIALLELIC, autosomal or pseudoautosomal
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.
Phenotypes for gene TNFRSF11A were set to Osteopetrosis, Defects in Intrinsic and Innate Immunity
TNFRSF11A was added to Primary immunodeficiency disorders panel. Sources: IUIS Classification February 2018
TNFRSF11A was created by Louise Daugherty