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  3. LRBA
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Monogenic Diabetes

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

Hali Van Niel (University of Melbourne)

Green List (high evidence)

Established gene disease association with Immunodeficiency, common variable, 8, with autoimmunity, feature may present with type 1 diabetes, possibly neonatal

25468195: 1 patient T1DM
26768763: 5 patients with T1DM
27057999: 1 patient T1DM at 20months
26745254: 2 patients with T1DM, 1 at 2 years, one at infancy
25479458: 1 patient T1DM at 6 years
28473463: 8 patients with T1DM, three of which diagnosed <6months (neonatal diabetes)
26206937: 2 patient T1Dm, 2 years and 18months
all with AR null LRBA variants
Created: 21 May 2024, 4:25 a.m. | Last Modified: 21 May 2024, 4:25 a.m.
Panel Version: 0.125

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
type 1 diabetes mellitus MONDO:0005147; neonatal diabetes mellitus MONDO:0016391; combined immunodeficiency due to LRBA deficiency MONDO:0013863

Publications

Created: 21 May 2024, 4:25 a.m.
Last Modified: 21 May 2024, 4:25 a.m.
Panel version: 0.125

History Filter Activity

17 Jan 2020, Gel status: 3

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 Monogenic diabetes. Sources: Expert Review,Expert Review Green Mode of inheritance for gene: LRBA was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LRBA were set to 25468195; 25479458; 26206937; 26745254; 27057999 Phenotypes for gene: LRBA were set to Immunodeficiency, common variable, 8, with autoimmunity