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Prepair 1000+

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

Michelle Torres (Victorian Clinical Genetics Services)

Green List (high evidence)

Generally childhood onset with recurrent infections and autoimmune phenomena.

Most reported individuals displayed reduced IgG and IgA, autoimmune disorders, hypogammaglobulinaemia (low levels of antibodies) and recurrent infections.
Created: 14 Jan 2025, 3:38 a.m. | Last Modified: 14 Jan 2025, 3:38 a.m.
Panel Version: 1.992

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

Created: 14 Jan 2025, 3:38 a.m.
Last Modified: 14 Jan 2025, 3:38 a.m.
Panel version: 1.992

History Filter Activity

16 Jan 2025, 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).

16 Jan 2025, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: LRBA were changed from Immunodeficiency, common variable, 8, with autoimmunity, 614700 (3) to Immunodeficiency, common variable, 8, with autoimmunity MIM#614700

16 Jan 2025, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: LRBA were set to

1 Jun 2022, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: LRBA was added gene: LRBA was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: LRBA was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: LRBA were set to Immunodeficiency, common variable, 8, with autoimmunity, 614700 (3)