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Gastrointestinal epithelial barrier disorders

Gene: RAG1

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

4 reviews

Olivia Niblock (Genomics England Curator)

Comment on list classification: Expert review is green for this gene and variants in this gene appear to be linked to Omenn syndrome, one of the symptoms of which is diarrhea, as well as immunodeficiency.
Created: 26 Jul 2018, 11:03 a.m.
Created: 26 Jul 2018, 11:03 a.m.

Panel version: 1.22

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: Imported from Infantile enterocolitis & monogenic inflammatory bowel disease 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: Imported from Infantile enterocolitis & monogenic inflammatory bowel disease panel version 0.180

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

History Filter Activity

26 Jul 2018, Gel status: 3

Set mode of inheritance

Olivia Niblock (Genomics England Curator)

Mode of inheritance for gene: RAG1 was changed from to BIALLELIC, autosomal or pseudoautosomal

26 Jul 2018, Gel status: 3

Entity classified by Genomics England curator

Olivia Niblock (Genomics England Curator)

Gene: rag1 has been classified as Green List (High Evidence).

25 Jul 2018, Gel status: 1

Panel promoted to version 1.0

Olivia Niblock (Genomics England Curator)

Panel reviews have been assessed and internal clinical team opinion has been sought on this panel, particularly to rule out incidental findings. Panel has been revised through expert review, internal review and literature research. 25/07/2018

17 Apr 2018, Gel status: 1

Added New Source

Olivia Niblock (Genomics England Curator)

RAG1 was added to Gastrointestinal epithelial barrier disorders panel. Sources: Expert list

17 Apr 2018, Gel status: 1

Created

Olivia Niblock (Genomics England Curator)

RAG1 was created by Olivia Niblock