LRBA

Chr 4AR

LPS responsive beige-like anchor protein

Also known as: BGL, CDC4L, CVID8, LAB300, LBA, uc.147

NCBI Gene: 987 ENSG00000198589 UniProt: P50851 OMIM: 606453

The protein encoded by this gene is a member of the WDL-BEACH-WD (WBW) gene family. Its expression is induced in B cells and macrophages by bacterial lipopolysaccharides (LPS). The encoded protein associates with protein kinase A and may be involved in leading intracellular vesicles to activated receptor complexes, which aids in the secretion and/or membrane deposition of immune effector molecules. Defects in this gene are associated with the disorder common variable immunodeficiency-8 with autoimmunity. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2012]

OMIM Research

OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Immunodeficiency, common variable, 8, with autoimmunityMIM #614700

Clinical highlights

Gene-disease validity (ClinGen)

combined immunodeficiency due to LRBA deficiency · ARDefinitivesufficient evidence for diagnostic panels

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype) and the gene is intolerant of it in the population — truncating, frameshift and canonical splice variants carry more prior weight here than missense.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

—

P/LP submissions

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P/LP missense

0.42

LOEUF

LOF

Mechanism· G2P