LRBA

LPS responsive beige-like anchor protein
OMIM: 606453, Gene2Phenotype

12 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 12 panels
Green LRBA in Infantile enterocolitis & monogenic inflammatory bowel disease Level 3: Gastrointestinal disorders Level 2: Gastroenterological disorders Version 1.45	review	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory UKGTN Radboud University Medical Center, Nijmegen Expert list Phenotypes Immunodeficiency, common variable, 8, with autoimmunity (CVID 8) 614700
Green LRBA in Multi-organ autoimmune diabetes Level 3: Disorders of unusual phenotypes Level 2: Endocrine disorders Version 1.12	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review
Amber LRBA in Gastrointestinal epithelial barrier disorders Level 3: Gastrointestinal disorders Level 2: Gastroenterological disorders Version 1.76	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber UKGTN Emory Genetics Laboratory Phenotypes Early Onset Inflammatory Bowel Disease Inflammatory Bowel Disease (Very Early Onset) Immunodeficiency, common variable, 8, with autoimmunity (CVID 8) 614700
Green LRBA in COVID-19 research Level 2: Viral research Version 1.146	review	BIALLELIC, autosomal or pseudoautosomal	Sources IUIS Classification February 2018 London North GLH GOSH PID v.8.0 NHS GMS GRID V2.0 Victorian Clinical Genetics Services North West GLH ESID Registry 20171117 Expert Review Green NHS GMS North West GLH London North GLH IUIS Classification February 2018 Victorian Clinical Genetics Services Expert Review Green ESID Registry 20171117 GRID V2.0 GOSH PID v.8.0 Phenotypes Unclassified antibody deficiency Recurrent infections, inflammatory bowel disease, autoimmunity, EBV infections Diseases of Immune Dysregulation Immunodeficiency, common variable, 8, with autoimmunity, 614700
Green LRBA in Diabetes with additional phenotypes suggestive of a monogenic aetiology Level 3: Disorders of unusual phenotypes Level 2: Endocrine disorders Version 1.68	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Phenotypes Immunodeficiency, common variable, 8, with autoimmunity
Green LRBA in Neonatal diabetes Level 2: Endocrinology Version 5.17 Latest signed off version: v5.0 (7 Aug 2024)	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Expert Review Phenotypes Immunodeficiency, common variable, 8, with autoimmunity, OMIM:614700 IPEX-like syndrome Neonatal diabetes and additional autoimmunity
Green LRBA in Intestinal failure or congenital diarrhoea Level 2: Gastrohepatology Version 3.7 Latest signed off version: v3.0 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Immunodeficiency, common variable, 8, with autoimmunity, OMIM:614700
Green LRBA in Familial diabetes Level 3: Disorders of unusual phenotypes Level 2: Endocrine disorders Version 1.68	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Phenotypes Immunodeficiency, common variable, 8, with autoimmunity
Green LRBA in Primary immunodeficiency or monogenic inflammatory bowel disease Level 2: Immunology Version 8.78 Latest signed off version: v8.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Other NHS GMS North West GLH London North GLH IUIS Classification February 2018 Victorian Clinical Genetics Services ESID Registry 20171117 GRID V2.0 GOSH PID v.8.0 Phenotypes Immunodeficiency, common variable, 8, with autoimmunity, 614700 Unclassified antibody deficiency Recurrent infections, inflammatory bowel disease, autoimmunity, EBV infections Diseases of Immune Dysregulation
No list LRBA in Monogenic diabetes Level 2: Endocrinology Version 3.10 Latest signed off version: v3.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Removed Phenotypes Immunodeficiency, common variable, 8, with autoimmunity Tags curated_removed
Red LRBA in Fetal anomalies Level 2: Fetal (including NIPD) Version 6.140 Latest signed off version: v6.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red NHS GMS PAGE DD-Gene2Phenotype Phenotypes Immunodeficiency, common variable, 8, with autoimmunity, OMIM:614700
Green LRBA in DDG2P Version 6.424 Latest signed off version: v6.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green DD-Gene2Phenotype Phenotypes CHILDHOOD-ONSET HYPOGAMMAGLOBULINEMIA 614700