COVID-19 research

Gene: LRBA

Green List (high evidence)

agree with green gene

Created: 17 Sep 2019, 3:18 p.m. | Last Modified: 17 Sep 2019, 3:18 p.m.

Panel Version: 1.94

Green List (high evidence)

YES- this is covered on our targeted exome

Created: 17 Sep 2019, 3:18 p.m. | Last Modified: 17 Sep 2019, 3:18 p.m.

Panel Version: 1.94

Green List (high evidence)

Comment on list classification: Associated with relevant phenotypes in OMIM and as probable Gen2Phen gene. At least 6 biallelic variants reported in 6 unrelated families

Created: 30 Apr 2018, 1:37 p.m.

Comment on phenotypes: Combined immunodeficiency; ALPS-like disease; IBD-like; IPEX-like disease; Common variable immunodeficiency disorders (CVID); Unclassified antibody deficiency

Created: 30 Apr 2018, 1:33 p.m.

Green List (high evidence)

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 enough evidence to rate this gene Green.

Created: 17 Sep 2019, 3:18 p.m. | Last Modified: 17 Sep 2019, 3:18 p.m.

Panel Version: 1.94

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 enough evidence to rate this gene Green.

Created: 17 Sep 2019, 3:18 p.m. | Last Modified: 17 Sep 2019, 3:18 p.m.

Panel Version: 1.94

OriginaI Metadata from IUIS classification table (February, 2018) downloaded 20180614. IUIS Genetic defect (original gene symbol in IUIS download): LRBA .PanelApp HGNC gene symbol check: LRBA . IUIS Disease: LRBA deficiency . IUIS Inheritance: AR .T cells: N/A, .B cells: Low or normal numbers of B cells, .IUIS Other affected cells: N/A. IUIS Associated features: Recurrent infections, inflammatory bowel disease, autoimmunity, EBV infections. IUIS Major category: Diseases of Immune Dysregulation. IUIS Subcategory: Regulatory T Cell Defects

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: 20 Apr 2018, 12:25 p.m.

Original metadata downloaded from ESID Registry. ESID_Gene_original: LRBA, PanelApp HGNC gene symbol check: LRBA, ESID classification: Main_category/ Sub_category/ PID_Diagnosis Combined immunodeficiencies / Combined immunodeficiency (CID) / Combined immunodeficiency; Diseases of immune dysregulation / Autoimmune lymphoproliferative syndrome (ALPS) / ALPS-like disease; ; Diseases of immune dysregulation / IPEX / IPEX-like disease Diseases of immune dysregulation / Early-onset inflammatory bowel disease / IBD-like disease; Predominantly antibody disorders / Hypogammaglobulinemias / Common variable immunodeficiency disorders (CVID); Predominantly antibody disorders / Unclassified antibody deficiency / Unclassified antibody deficiency

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

Original metadata supplied by GRID. GRID Gene Symbol HGNC PanelApp check: LRBA, GRID_Gene_Symbol: LRBA, GRID_Transcript_ENS_Community submitted: ENST00000357115, GRID_Transcript_RefSeq: NM_006726.4, GRID_Transcript_ENS_used_on_Production: ENST00000357115

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