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COVID-19 research

Gene: LRBA

Green List (high evidence)

LRBA (LPS responsive beige-like anchor protein)
EnsemblGeneIds (GRCh38): ENSG00000198589
EnsemblGeneIds (GRCh37): ENSG00000198589
OMIM: 606453, Gene2Phenotype
LRBA is in 13 panels

5 reviews

Kimberly Gilmour (Great Ormond Street Hopsital)

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

Tracy Briggs (Manchester Genomic Medicine Centre)

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

Sophie Hambleton (Newcastle University)

Green List (high evidence)

Sarah Leigh (Genomics England Curator)

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.

Louise Daugherty (Genomics England Curator)

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.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
Phenotypes
  • Unclassified antibody deficiency
  • Recurrent infections, inflammatory bowel disease, autoimmunity, EBV infections
  • Diseases of Immune Dysregulation
  • Immunodeficiency, common variable, 8, with autoimmunity, 614700
OMIM
606453
Clinvar variants
Variants in LRBA
Penetrance
None
Publications
Panels with this gene

History Filter Activity

1 Apr 2020, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

gene: LRBA was added gene: LRBA was added to Viral susceptibility. Sources: Expert Review Green,ESID Registry 20171117,North West GLH,Victorian Clinical Genetics Services,GRID V2.0,NHS GMS,GOSH PID v.8.0,London North GLH,IUIS Classification February 2018 Mode of inheritance for gene: LRBA was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LRBA were set to 25468195; 22608502; 22721650 Phenotypes for gene: LRBA were set to Unclassified antibody deficiency; Recurrent infections, inflammatory bowel disease, autoimmunity, EBV infections; Diseases of Immune Dysregulation; Immunodeficiency, common variable, 8, with autoimmunity, 614700