RAG1

recombination activating 1
OMIM: 179615, ClinGen, DECIPHER

9 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 9 panels
Green RAG1 in Inflammatory bowel disease Level 2: Gastroenterological disorders Version 0.122 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 1.2302	3 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 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 Combined Immunodeficiency Level 2: Immunological disorders Version 1.114 Component of the following Super Panels: Immunological disorders_SuperPanel	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services 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 Severe Combined Immunodeficiency (absent T absent B cells) Level 2: Immunological disorders Version 1.8 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 Severe combined immunodeficiency, B cell-negative (MIM#601457)
Green RAG1 in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 0.109	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 1.1566	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 BabyScreen+ newborn screening Level 2: Screening Version 1.116	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green BabySeq Category A gene BeginNGS 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 Tags treatable immunological
Green RAG1 in Prepair 500+ Level 2: Screening Version 1.5	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Severe combined immunodeficiency, B cell-negative, 601457 (3)