1. Panels
  2. Disorders of immune dysregulation
  3. LRBA
STRs in panel
Prev Next
Regions in panel
Prev Next

Disorders of immune dysregulation

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 14 panels

2 reviews

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

At least 5 unrelated consanguineous families reported with CVID.
Sources: Literature
Created: 23 Jul 2020, 2:04 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Immunodeficiency, common variable, 8, with autoimmunity MIM#614700

Publications

Created: 23 Jul 2020, 2:04 a.m.

Panel version: Imported from Mendeliome panel version Imported from Common Variable Immunodeficiency panel version 0.81

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Sources: Expert list
Created: 5 Apr 2020, 3:44 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Immunodeficiency, common variable, 8, with autoimmunity, MIM# 614700; Recurrent infections; Inflammatory bowel disease; Autoimmunity; EBV infections

Publications

Created: 5 Apr 2020, 3:44 a.m.

Panel version: 0.31

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
  • Expert Review Green
  • Expert list
Phenotypes
  • Immunodeficiency, common variable, 8, with autoimmunity, MIM# 614700
  • Recurrent infections
  • Inflammatory bowel disease
  • Autoimmunity
  • EBV infections
OMIM
606453
Clinvar variants
Variants in LRBA
Penetrance
None
Publications
Panels with this gene

History Filter Activity

5 Apr 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: lrba has been classified as Green List (High Evidence).

5 Apr 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: lrba has been classified as Green List (High Evidence).

5 Apr 2020, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: LRBA was added gene: LRBA was added to Disorders of immune dysregulation. Sources: Expert list Mode of inheritance for gene: LRBA was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LRBA were set to 22721650; 25468195; 26206937; 22608502 Phenotypes for gene: LRBA were set to Immunodeficiency, common variable, 8, with autoimmunity, MIM# 614700; Recurrent infections; Inflammatory bowel disease; Autoimmunity; EBV infections Review for gene: LRBA was set to GREEN