LRBA

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

14 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 14 panels
Green LRBA in Infantile enterocolitis & monogenic inflammatory bowel disease Level 3: Gastrointestinal disorders Level 2: Gastroenterological disorders Version 1.43	review	BIALLELIC, autosomal or pseudoautosomal	Sources UKGTN Radboud University Medical Center, Nijmegen Emory Genetics Laboratory 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 1.11	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 1.75	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 1.141	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 1.67	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Phenotypes Immunodeficiency, common variable, 8, with autoimmunity
Green LRBA in Neonatal diabetes Level 3: Disorders of unusual phenotypes Level 2: Endocrine disorders Version 4.4 Latest signed off version: v4.0 (22 Mar 2023)	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 Version 3.3 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 1.67	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 Version 4.201 Latest signed off version: v4.0 (22 Mar 2023)	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
Red LRBA in Autism Version 0.36	review	Not set	Sources Expert Review Red SFARI
No list LRBA in Monogenic diabetes Version 2.57 Latest signed off version: v2.2 (25 Feb 2020)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Removed Phenotypes Immunodeficiency, common variable, 8, with autoimmunity Tags curated_removed
Amber LRBA in Fetal anomalies Version 3.157 Latest signed off version: v3.0 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber PAGE DD-Gene2Phenotype Phenotypes CHILDHOOD-ONSET HYPOGAMMAGLOBULINEMIA
Green LRBA in DDG2P Version 3.87 Latest signed off version: v3.1 (22 Mar 2023) Component of the following Super Panels: Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green DD-Gene2Phenotype Phenotypes CHILDHOOD-ONSET HYPOGAMMAGLOBULINEMIA 614700
Green LRBA in Severe Paediatric Disorders Version 1.184	review	BIALLELIC, autosomal or pseudoautosomal	Sources Next Generation Children Project Expert Review Green Expert list Phenotypes Immunodeficiency, common variable, 8, with autoimmunity, 614700