Infantile enterocolitis & monogenic inflammatory bowel disease
Gene: CD3GEnsemblGeneIds (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
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Illumina TruGenome Clinical Sequencing Services
- Radboud University Medical Center, Nijmegen
- UKGTN
- Expert list
- Phenotypes
-
- Immunodeficiency 17, CD3 gamma deficient 615607
- OMIM
- 186740
- Clinvar variants
- Variants in CD3G
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
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.
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set publications
Sarah Leigh (Genomics England Curator)Publications for CD3G were set to 17277165; 1635567; 24910257
Upload gene information
Sarah Leigh (Genomics England Curator)CD3G was added to Infantile enterocolitis & monogenic inflammatory bowel diseasepanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for gene CD3G were set to Immunodeficiency 17, CD3 gamma deficient 615607
Created
Ellen McDonagh (Genomics England Curator)CD3G was created by ellenmcdonagh
Added New Source
Ellen McDonagh (Genomics England Curator)CD3G was added to Infantile enterocolitis & monogenic inflammatory bowel diseasepanel. Sources: Expert list