1. Panels
  2. Autoimmune Lymphoproliferative Syndrome
  3. LRBA
STRs in panel
Prev Next
Regions in panel
Prev Next

Autoimmune Lymphoproliferative Syndrome

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

1 review

Ain Roesley (Victorian Clinical Genetics Services)

Green List (high evidence)

PMID:38302222; 5x in Center for Chronic Immunodeficiency in Freiburg, Germany database

PMID:25931386; 2 families in the report + 6 others in review table
Sources: Literature
Created: 15 Jan 2025, 1:26 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 15 Jan 2025, 1:26 a.m.

Panel version: 0.23

History Filter Activity

15 Jan 2025, Gel status: 3

Entity classified by Genomics England curator

Ain Roesley (Victorian Clinical Genetics Services)

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

15 Jan 2025, Gel status: 3

Entity classified by Genomics England curator

Ain Roesley (Victorian Clinical Genetics Services)

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

15 Jan 2025, Gel status: 1

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

Ain Roesley (Victorian Clinical Genetics Services)

gene: LRBA was added gene: LRBA was added to Autoimmune Lymphoproliferative Syndrome. Sources: Literature Mode of inheritance for gene: LRBA was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LRBA were set to 38302222; 25931386 Phenotypes for gene: LRBA were set to Immunodeficiency, common variable, 8, with autoimmunity MIM#614700 Review for gene: LRBA was set to GREEN gene: LRBA was marked as current diagnostic