Severe Combined Immunodeficiency (absent T absent B cells)
Gene: RAG2EnsemblGeneIds (GRCh38): ENSG00000175097
EnsemblGeneIds (GRCh37): ENSG00000175097
OMIM: 179616, Gene2Phenotype
RAG2 is in 10 panels
1 review
Crystle Lee (Victorian Clinical Genetics Services)
Well reported to cause SCIDCreated: 11 May 2020, 1:07 a.m. | Last Modified: 11 May 2020, 1:07 a.m.
Panel Version: 0.7
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Severe combined immunodeficiency, B cell-negative (MIM#601457)
Publications
Details
- Mode of Inheritance
- 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)
- OMIM
- 179616
- Clinvar variants
- Variants in RAG2
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: rag2 has been classified as Green List (High Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: RAG2 were changed from to Severe combined immunodeficiency, B cell-negative (MIM#601457)
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: RAG2 were set to
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
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 Severe combined immunodeficiency (absent T, absent B cells)_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