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  3. LRBA
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Interstitial Lung Disease

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

Suzanna Lindsey-Temple (Liverpool Hospital)

Green List (high evidence)

Over 5 unrelated families reported.
Well-established gene-disease association.
Created: 6 Nov 2021, 6:07 a.m. | Last Modified: 6 Nov 2021, 6:07 a.m.
Panel Version: 0.183

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Immunodysregulation polyendocrinopathy enteropathy X-linked (IPEX) -like. Childhood bronchiectasis and GLILD (Granulomatous and Lymphocytic interstitial lung disease)

Publications

Created: 6 Nov 2021, 6:07 a.m.
Last Modified: 6 Nov 2021, 6:07 a.m.
Panel version: 0.183

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Immunodeficiency, common variable, 8, with autoimmunity, MIM# 614700
  • Immunodysregulation polyendocrinopathy enteropathy X-linked (IPEX) -like
  • Childhood bronchiectasis and GLILD (Granulomatous and Lymphocytic interstitial lung disease)
OMIM
606453
Clinvar variants
Variants in LRBA
Penetrance
None
Publications
Panels with this gene

History Filter Activity

8 Nov 2021, 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).

8 Nov 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: LRBA were changed from to Immunodeficiency, common variable, 8, with autoimmunity, MIM# 614700; Immunodysregulation polyendocrinopathy enteropathy X-linked (IPEX) -like; Childhood bronchiectasis and GLILD (Granulomatous and Lymphocytic interstitial lung disease)

8 Nov 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: LRBA were set to

8 Nov 2021, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: LRBA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: LRBA was added gene: LRBA was added to Interstitial Lung Disease_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: LRBA was set to Unknown