Gastrointestinal epithelial barrier disorders
Gene: RAG2

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

3 reviews

Olivia Niblock (Genomics England Curator)

Comment on list classification: Previous curation and expert review suggests that variants in this gene are linked to gastrointestinal epithelial barrier phenotypes, including those seen in Omenn syndrome. Therefore, this gene will be promoted to green.
Created: 26 Jul 2018, 11:25 a.m.

Created: 26 Jul 2018, 11:25 a.m.

Panel version: 1.33

Neil shah (GOSH)

Green List (high evidence)

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

Panel version: Imported from Infantile enterocolitis & monogenic inflammatory bowel disease 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: Imported from Infantile enterocolitis & monogenic inflammatory bowel disease panel version 0.111

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
UKGTN

Phenotypes

Inflammatory Bowel Disease (Very Early Onset)

OMIM

179616

Clinvar variants

Variants in RAG2

Penetrance

None

Panels with this gene