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  2. Infantile enterocolitis & monogenic inflammatory bowel disease
  3. RAG1
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Infantile enterocolitis & monogenic inflammatory bowel disease

Gene: RAG1

Green List (high evidence)
RAG1 (recombination activating 1)
EnsemblGeneIds (GRCh38): ENSG00000166349
EnsemblGeneIds (GRCh37): ENSG00000166349
OMIM: 179615, Gene2Phenotype
RAG1 is in 6 panels

3 reviews

Richard Scott (Genomics England Curator)

Comment on list classification: Appropriate phenotype for inclusion
Created: 13 Oct 2016, 8:51 p.m.
Created: 13 Oct 2016, 8:51 p.m.

Panel version: 0.200

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Multiple variants reported, and green on the SCID (Version 1.0) and Combined B and T cell defect (Version 1.0) gene panels. However unsure whether it should be included in this panel for these phenotypes.
Created: 12 Oct 2016, 4:27 p.m.
Created: 12 Oct 2016, 4:27 p.m.

Panel version: 0.180

Neil shah (GOSH)

Green List (high evidence)

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

Panel version: 0.122

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Severe combined immunodeficiency, B cell-negative
  • Omenn syndrome
  • Combined cellular and humoral immune defects with granulomas
  • Alpha/beta T-cell lymphopenia with gamma/delta T-cell expansion, severe cytomegalovirus infection, and autoimmunity
OMIM
179615
Clinvar variants
Variants in RAG1
Penetrance
Complete
Panels with this gene

History Filter Activity

14 Oct 2016, Gel status: 4

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.

13 Oct 2016, Gel status: 4

Gene classified by Genomics England curator

Richard Scott (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

12 Oct 2016, Gel status: 2

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for RAG1 were set to Severe combined immunodeficiency, B cell-negative; Omenn syndrome;Combined cellular and humoral immune defects with granulomas;Alpha/beta T-cell lymphopenia with gamma/delta T-cell expansion, severe cytomegalovirus infection, and autoimmunity

12 Oct 2016, Gel status: 2

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

10 May 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

RAG1 was created by ellenmcdonagh

10 May 2016, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

RAG1 was added to Infantile enterocolitis & monogenic inflammatory bowel diseasepanel. Sources: Expert list