1. Panels
  2. Infantile enterocolitis & monogenic inflammatory bowel disease
  3. RAG2
STRs in panel
Prev Next
Regions in panel
Prev Next

Infantile enterocolitis & monogenic inflammatory bowel disease

Gene: RAG2

Green List (high evidence)
RAG2 (recombination activating 2)
EnsemblGeneIds (GRCh38): ENSG00000175097
EnsemblGeneIds (GRCh37): ENSG00000175097
OMIM: 179616, Gene2Phenotype
RAG2 is in 6 panels

2 reviews

Neil shah (GOSH)

Green List (high evidence)

Created: 12 Oct 2016, 7:31 a.m.

Panel version: 0.122

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

Associated with phenotypes in OMIM, not in G2P / DD. Present on UKGTN Very Early Onset Inflammatory Bowel Disease 40 Gene Panel. At least eight variants reported
Created: 6 Sep 2016, 10:58 a.m.
Created: 6 Sep 2016, 10:58 a.m.

Panel version: 0.111

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Expert list
Phenotypes
  • SCID/Hyper-IgM
  • Severe combined immunodeficiency, B cell-negative 601457
  • Omenn syndrome 603554
OMIM
179616
Clinvar variants
Variants in RAG2
Penetrance
Complete
Panels with this gene

History Filter Activity

14 Oct 2016, Gel status: 3

panel promoted to version 1

Ellen McDonagh (Genomics England Curator)

14th Oct 2016: panel revised according to expert review, additional curation for evidence level and internal clinical review, and promoted to version 1.

6 Sep 2016, Gel status: 3

Upload gene information

Sarah Leigh (Genomics England Curator)

RAG2 was added to Infantile enterocolitis & monogenic inflammatory bowel diseasepanel. Sources: Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,UKGTN

6 Sep 2016, Gel status: 0

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene RAG2 were set to SCID/Hyper-IgM; Severe combined immunodeficiency, B cell-negative 601457; Omenn syndrome 603554

10 May 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

RAG2 was created by ellenmcdonagh

10 May 2016, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

RAG2 was added to Infantile enterocolitis & monogenic inflammatory bowel diseasepanel. Sources: Expert list