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Severe Paediatric Disorders

Gene: RAG1

Green List (high evidence)

RAG1 (recombination activating 1)
EnsemblGeneIds (GRCh38): ENSG00000166349
EnsemblGeneIds (GRCh37): ENSG00000166349
OMIM: 179615, Gene2Phenotype
RAG1 is in 7 panels

1 review

Louise Daugherty (Genomics England Curator)

I don't know

Initial gene list (NGC_genelist-20190823_GREEN_dis_moi_forCuration_20200211.xlsx) collated by Dr Courtney French (University of Cambridge University Hospital NHS Foundation), Dr Karyn Megy (Clinical Feedback Lead, NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation), Dr Alba Sanchis-Juan (NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation) and Lucy Raymond (Professor of Medical Genetics and Neurodevelopment, University of Cambridge University Hospital NHS Foundation). Submitted to the PanelApp resource January 2020 on behalf of the Next Generation Children Project, Addenbrookes' Hospital, Cambridge. Gene Symbol submitted: RAG1; Recommended initial gene rating: Green List (high evidence); Phenotypes: Alpha/beta T-cell lymphopenia with gamma/delta T-cell expansion, severe cytomegalovirus infection, and autoimmunity, 609889 (3) | Combined cellular and humoral immune defects with granulomas, 233650 (3) | Omenn syndrome, 603554 (3) | Severe combined immunodeficiency, B cell-negative, 601457 (3); Mode of inheritance: ND | Autosomal recessive | Autosomal recessive | Autosomal recessive
Created: 20 Feb 2020, 5:24 p.m. | Last Modified: 20 Feb 2020, 5:24 p.m.
Panel Version: 0.12

Details

Mode of Inheritance
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
OMIM
179615
Clinvar variants
Variants in RAG1
Penetrance
None
Publications
Panels with this gene

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