Childhood interstitial lung disease
Gene: LRBA
LRBA (LPS responsive beige-like anchor protein)
EnsemblGeneIds (GRCh38): ENSG00000198589
EnsemblGeneIds (GRCh37): ENSG00000198589
OMIM: 606453, Gene2Phenotype
LRBA is in 13 panels
EnsemblGeneIds (GRCh38): ENSG00000198589
EnsemblGeneIds (GRCh37): ENSG00000198589
OMIM: 606453, Gene2Phenotype
LRBA is in 13 panels
1 review
Achchuthan Shanmugasundram (Genomics England Curator)
LRBA has been added to the panel for the clinical indication 'R462 Childhood interstitial lung disease' with a green rating as agreed with the NHS Genomic Medicine Service.Created: 26 Jan 2026, 6:34 p.m. | Last Modified: 26 Jan 2026, 6:34 p.m.
Panel Version: 0.5
Comment on phenotypes: This gene has been associated with relevant phenotypes in OMIM (MIM #614700) and the OMIM record was last accessed on 30 December 2025.Created: 30 Dec 2025, 7:22 p.m. | Last Modified: 30 Dec 2025, 7:22 p.m.
Panel Version: 0.2
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
combined immunodeficiency due to LRBA deficiency, MONDO:0013863; Immunodeficiency, common variable, 8, with autoimmunity, OMIM:614700
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- NHS GMS
- Phenotypes
-
- Immunodeficiency, common variable, 8, with autoimmunity, OMIM:614700
- combined immunodeficiency due to LRBA deficiency, MONDO:0013863
- OMIM
- 606453
- Clinvar variants
- Variants in LRBA
- Penetrance
- None
- Panels with this gene
-
- Neonatal diabetes
- Fetal anomalies
- Monogenic diabetes
- Childhood interstitial lung disease
- Multi-organ autoimmune diabetes
- COVID-19 research
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Intestinal failure or congenital diarrhoea
- DDG2P
- Gastrointestinal epithelial barrier disorders
- Familial diabetes
- Infantile enterocolitis & monogenic inflammatory bowel disease
- Diabetes with additional phenotypes suggestive of a monogenic aetiology
History Filter Activity
30 Dec 2025, Gel status: 3
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Achchuthan Shanmugasundram (Genomics England Curator)gene: LRBA was added gene: LRBA was added to Childhood interstitial lung disease. Sources: NHS GMS,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, OMIM:614700; combined immunodeficiency due to LRBA deficiency, MONDO:0013863