Combined Immunodeficiency

Gene: RAG2

Green List (high evidence)

RAG2 (recombination activating 2)
EnsemblGeneIds (GRCh38): ENSG00000175097
EnsemblGeneIds (GRCh37): ENSG00000175097
OMIM: 179616, Gene2Phenotype
RAG2 is in 10 panels

1 review

Danielle Ariti (University of Melbourne)

Green List (high evidence)

Omenn syndrome
3 unrelated individuals; two mouse models
Individuals typically presented with severe combined immunodeficiency associated with erythrodermia, eosinophilia, hepatosplenomegaly, lymphadenopathy, and elevated serum IgE levels.
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Severe combined immunodeficiency, B cell-negative
8 individuals from 7 unrelated families; two mouse models
Individuals typically presented with failure to thrive, recurrent infections, diarrhoea and severe T cell and B cell immunodeficiency
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Combined cellular and humoral immune defects with granulomas
1 individual; Compound heterozygous for missense variants (G451A and T77N), which were identified heterozygous in the parents; variants had not been previously reported.
The individual presented with hypogammaglobulinaemia, decreased numbers of T and B cells, splenomegaly and granulomatous disease involving the internal organs (spleen).
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Homozygous and Compound heterozygous (Missense, nonsense and del) variants have were reported in all disease phenotypes, leading to premature termination and loss of function; same variants were seen across multiple disease phenotypes

Green- Omenn syndrome
Green- Severe combined immunodeficiency, B cell-negative
Red- Combined cellular and humoral immune defects with granulomas
Created: 24 Aug 2021, 2:55 a.m. | Last Modified: 24 Aug 2021, 2:55 a.m.
Panel Version: 0.365

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Omenn syndrome MIM# 603554; Severe combined immunodeficiency, B cell-negative MIM# 601457; Combined cellular and humoral immune defects with granulomas MIM# 233650

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Omenn syndrome MIM# 603554
  • Severe combined immunodeficiency, B cell-negative MIM# 601457
  • Combined cellular and humoral immune defects with granulomas MIM# 233650
OMIM
179616
Clinvar variants
Variants in RAG2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

24 Aug 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: rag2 has been classified as Green List (High Evidence).

24 Aug 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: RAG2 were changed from to Omenn syndrome MIM# 603554; Severe combined immunodeficiency, B cell-negative MIM# 601457; Combined cellular and humoral immune defects with granulomas MIM# 233650

24 Aug 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: RAG2 were set to

24 Aug 2021, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: RAG2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: RAG2 was added gene: RAG2 was added to Combined immunodeficiency_MelbourneGenomics_AustralianGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship Mode of inheritance for gene: RAG2 was set to Unknown