RAG1

recombination activating 1
OMIM: 179615, Gene2Phenotype

7 panels

Panel Reviews Mode of inheritance Details
7 panels

Green RAG1 in Infantile enterocolitis & monogenic inflammatory bowel disease

Level 3: Gastrointestinal disorders
Level 2: Gastroenterological disorders
Version 1.27

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 1.61

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list

Green RAG1 in COVID-19 research


Level 2: Viral research
Version 1.80

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 1.40
Latest signed off version: v1.6 (15 Oct 2020)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • OMENN SYNDROME, OMIM:603554

Green RAG1 in Primary immunodeficiency


Version 2.480
Latest signed off version: v2.1 (24 Feb 2020)

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 1.50
Latest signed off version: v1.3 (2 Mar 2020)

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 1.84

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