LRBA

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

13 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 13 panels
Green LRBA in Vasculitis Level 2: Immunological disorders Version 0.82	review	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Red LRBA in Cataract Level 2: Ophthalmological disorders Version 0.366	review	Unknown	Sources Expert Review Red Victorian Clinical Genetics Services
Green LRBA in Inflammatory bowel disease Level 2: Gastroenterological disorders Version 0.121 Component of the following Super Panels: Immunological disorders_SuperPanel	review	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Green LRBA in Interstitial Lung Disease Level 2: Respiratory disorders Version 1.0	review	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)
Green LRBA in Mendeliome Version 1.1902	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Victorian Clinical Genetics Services Phenotypes Immunodeficiency, common variable, 8, with autoimmunity MIM# 614700 Normal-decreased CD4 numbers T cell dysregulation Low-normal B cells Reduced IgG and IgA Recurrent infections chronic diarrhoea inflammatory bowel disease hypogammaglobulinaemia pneumonitis autoimmune disorders thrombocytopaenia
Green LRBA in Combined Immunodeficiency Level 2: Immunological disorders Version 1.66 Component of the following Super Panels: Immunological disorders_SuperPanel	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes Immunodeficiency, common variable, 8, with autoimmunity MIM# 614700 Normal-decreased CD4 numbers T cell dysregulation Low-normal B cells Reduced IgG and IgA Recurrent infections chronic diarrhoea inflammatory bowel disease hypogammaglobulinaemia pneumonitis autoimmune disorders thrombocytopaenia
Green LRBA in Common Variable Immunodeficiency Level 2: Immunological disorders Version 1.12 Component of the following Super Panels: Immunological disorders_SuperPanel	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Immunodeficiency, common variable, 8, with autoimmunity MIM#614700
Green LRBA in Disorders of immune dysregulation Level 2: Immunological disorders Version 0.186 Component of the following Super Panels: Immunological disorders_SuperPanel	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Immunodeficiency, common variable, 8, with autoimmunity, MIM# 614700 Recurrent infections Inflammatory bowel disease Autoimmunity EBV infections
Green LRBA in Monogenic Diabetes Level 2: Endocrine disorders Version 0.134 Component of the following Super Panels: Metabolic Disorders Superpanel	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Phenotypes Immunodeficiency, common variable, 8, with autoimmunity
Green LRBA in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 0.109	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Immunodeficiency, common variable, 8, with autoimmunity, 614700 (3)
Red LRBA in Fetal anomalies Version 1.255	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genomics England PanelApp Phenotypes Immunodeficiency, common variable, 8, with autoimmunity MIM#614700
Green LRBA in Prepair 1000+ Level 2: Screening Version 1.9	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Immunodeficiency, common variable, 8, with autoimmunity, 614700 (3)
Green LRBA in BabyScreen+ newborn screening Level 2: Screening Version 1.114	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Immunodeficiency, common variable, 8, with autoimmunity MIM# 614700 Tags treatable immunological