RAG1

recombination activating 1
OMIM: 179615, Gene2Phenotype

7 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 7 panels
Green RAG1 in Infantile enterocolitis & monogenic inflammatory bowel disease Level 3: Gastrointestinal disorders Level 2: Gastroenterological disorders Version 1.44	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Severe combined immunodeficiency, B cell-negative Omenn syndrome Combined cellular and humoral immune defects with granulomas Alpha/beta T-cell lymphopenia with gamma/delta T-cell expansion, severe cytomegalovirus infection, and autoimmunity
Green RAG1 in Gastrointestinal epithelial barrier disorders Level 3: Gastrointestinal disorders Level 2: Gastroenterological disorders Version 1.75	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list
Green RAG1 in COVID-19 research Level 2: Viral research Version 1.142	review	BIALLELIC, autosomal or pseudoautosomal	Sources IUIS Classification February 2018 SCID v1.6 London North GLH GOSH PID v.8.0 NHS GMS GRID V2.0 Victorian Clinical Genetics Services North West GLH ESID Registry 20171117 Combined B and T cell defect v1.12 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 SCID v1.6 Combined B and T cell defect v1.12 Phenotypes Nl NK Severe combined immunodeficiency, B cell-negative, 601457 Severe Combined Immune Deficiency Atypical Severe Combined Immunodeficiency (Atypical SCID) Immunodeficiencies affecting cellular and humoral immunity T-B+ SCID Severe combined immunodeficiency, B cell-negative Omenn syndrome Severe combined immunodeficiency (SCID) T-B- SCID RAG1 deficiency
Green RAG1 in Rare genetic inflammatory skin disorders Version 3.19 Latest signed off version: v3.0 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes OMENN SYNDROME, OMIM:603554
Green RAG1 in Primary immunodeficiency or monogenic inflammatory bowel disease Version 5.3 Latest signed off version: v5.0 (1 May 2024)	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 SCID v1.6 Combined B and T cell defect v1.12 Phenotypes Severe combined immunodeficiency, B cell-negative Severe Combined Immune Deficiency Severe combined immunodeficiency, B cell-negative, 601457 T-B- SCID T-B+ SCID RAG1 deficiency Atypical Severe Combined Immunodeficiency (Atypical SCID) Omenn syndrome Severe combined immunodeficiency (SCID) Nl NK Immunodeficiencies affecting cellular and humoral immunity
Green RAG1 in Respiratory ciliopathies including non-CF bronchiectasis Version 3.11 Latest signed off version: v3.10 (1 May 2024)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Expert Review Phenotypes Combined immunodeficiency (CID) Combined immunodeficiency with granuloma and/or autoimmunity (CID-G/A) early onset and progressive lung disease
Green RAG1 in Severe Paediatric Disorders Version 1.184	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Next Generation Children Project Expert Review Green Expert list Phenotypes Omenn syndrome, 603554 Combined cellular and humoral immune defects with granulomas, 233650 Alpha/beta T-cell lymphopenia with gamma/delta T-cell expansion, severe cytomegalovirus infection, and autoimmunity, 609889 Severe combined immunodeficiency, B cell-negative, 601457