RAG1

recombination activating 1
OMIM: 179615, Gene2Phenotype

9 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 9 panels
Green RAG1 in Inflammatory bowel disease Level 2: Gastroenterological disorders Version 0.126 Component of the following Super Panels: Immunological disorders_SuperPanel	0 reviews	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Green RAG1 in Mendeliome Version 1.3512	4 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Victorian Clinical Genetics Services Phenotypes Recombinase activating gene 1 deficiency MONDO:0000572
Green RAG1 in Combined Immunodeficiency Level 2: Immunological disorders Version 1.138 Component of the following Super Panels: Immunological disorders_SuperPanel	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes Recombinase activating gene 1 deficiency MONDO:0000572
Green RAG1 in Severe Combined Immunodeficiency Level 2: Immunological disorders Version 1.27 Component of the following Super Panels: Immunological disorders_SuperPanel	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Melbourne Genomics Health Alliance Immunology Flagship Expert Review Green Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes Recombinase activating gene 1 deficiency MONDO:0000572
Green RAG1 in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 0.110	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Severe combined immunodeficiency, B cell-negative, 601457 (3)
Green RAG1 in Additional findings_Paediatric Level 2: Screening Version 0.278	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Omenn syndrome
Green RAG1 in Prepair 1000+ Level 2: Screening Version 2.14	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Alpha/beta T-cell lymphopenia with gamma/delta T-cell expansion, severe cytomegalovirus infection, and autoimmunity MIM# 609889 Combined cellular and humoral immune defects with granulomas MIM# 233650 Omenn syndrome MIM# 603554 Severe combined immunodeficiency, B cell-negative MIM# 601457
Green RAG1 in Genomic newborn screening: BabyScreen+ Level 2: Screening Version 1.140	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green BabySeq Category A gene BeginNGS Phenotypes Recombinase activating gene 1 deficiency MONDO:0000572 Tags treatable immunological
Green RAG1 in Prepair 500+ Level 2: Screening Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Mackenzie's Mission Phenotypes Alpha/beta T-cell lymphopenia with gamma/delta T-cell expansion, severe cytomegalovirus infection, and autoimmunity MIM# 609889 Combined cellular and humoral immune defects with granulomas MIM# 233650 Omenn syndrome MIM# 603554 Severe combined immunodeficiency, B cell-negative MIM# 601457