1. Panels
  2. Prepair 1000+
  3. RAG2
Genes in panel
Prev Next
STRs in panel
Prev Next
Regions in panel
Prev Next

Prepair 1000+

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

Crystle Lee (Victorian Clinical Genetics Services)

Green List (high evidence)

Well established gene disease association. These conditions present early in life with increased susceptibility to severe infections and may be fatal if left untreated

PMID: 30046960: Genotype–phenotype correlation: Null alleles result in severe combined immune deficiency (SCID) phenotype, whereas hypomorphic RAG variants have been associated with distinct clinical entities including Omenn syndrome. Polymorphic gene
Created: 20 Jul 2022, 1:03 a.m. | Last Modified: 20 Jul 2022, 1:03 a.m.
Panel Version: 0.50

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

Created: 20 Jul 2022, 1:03 a.m.
Last Modified: 20 Jul 2022, 1:03 a.m.
Panel version: 0.50

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Severe combined immunodeficiency, B cell-negative, 601457 (3)
OMIM
179616
Clinvar variants
Variants in RAG2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

2 Nov 2023, Gel status: 3

Set Phenotypes, Set publications

Seb Lunke (Victorian Clinical Genetics Services)

Added phenotypes Severe combined immunodeficiency, B cell-negative, 601457 (3) for gene: RAG2 Publications for gene RAG2 were updated from 26996199; 30046960 to 30046960; 26996199

20 Jul 2022, 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).

20 Jul 2022, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: RAG2 were set to

1 Jun 2022, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: RAG2 was added gene: RAG2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: RAG2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: RAG2 were set to Severe combined immunodeficiency, B cell-negative, 601457 (3)