Gastrointestinal epithelial barrier disorders
Gene: CD3G
CD3G (CD3g molecule)
EnsemblGeneIds (GRCh38): ENSG00000160654
EnsemblGeneIds (GRCh37): ENSG00000160654
OMIM: 186740, Gene2Phenotype
CD3G is in 4 panels
EnsemblGeneIds (GRCh38): ENSG00000160654
EnsemblGeneIds (GRCh37): ENSG00000160654
OMIM: 186740, Gene2Phenotype
CD3G is in 4 panels
3 reviews
Neil shah (GOSH)
Ellen McDonagh (Genomics England Curator)
Comment on list classification: Rated green by Neil Shah (GOSH), and variants within this gene have been reported in multiple families.Created: 10 Oct 2016, 2:18 p.m.
Sarah Leigh (Genomics England Curator)
Associated with phenotype in OMIM, not in G2P / DD. Present on UKGTN Very Early Onset Inflammatory Bowel Disease 40 Gene Panel. Four variants reported in two homozygotes and one compound heterozygote.
Created: 5 Sep 2016, 12:28 p.m.
Details
- Sources
-
- UKGTN
- Phenotypes
-
- Inflammatory Bowel Disease (Very Early Onset)
- OMIM
- 186740
- Clinvar variants
- Variants in CD3G
- Penetrance
- None
- Panels with this gene
History Filter Activity
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)CD3G was added to Gastrointestinal epithelial barrier disorders panel. Sources: UKGTN
17 Apr 2018, Gel status: 1
Created
Olivia Niblock (Genomics England Curator)CD3G was created by Olivia Niblock