This Panel is marked as Internal
ClinGen Gene Validity Curations
Gene: CD3E
CD3E (CD3e molecule)
EnsemblGeneIds (GRCh38): ENSG00000198851
EnsemblGeneIds (GRCh37): ENSG00000198851
OMIM: 186830, Gene2Phenotype
CD3E is in 2 panels
EnsemblGeneIds (GRCh38): ENSG00000198851
EnsemblGeneIds (GRCh37): ENSG00000198851
OMIM: 186830, Gene2Phenotype
CD3E is in 2 panels
1 review
Ellen McDonagh (Genomics England Curator)
This gene and information sourced from the ClinGen Gene Validity Curations. For the full report and publications, see the ClinGen Gene Validity Curation for each gene here: https://search.clinicalgenome.org/kb/gene-validity.Created: 23 Jun 2017, 11:51 a.m.
Source: ClinGen Gene Validity Classification Summary. Determined as DEFINITIVE by calculated classification (dated: 05/26/2016) and DEFINITIVE by Expert curation (dated 01/09/2017). Available here: https://search.clinicalgenome.org/kb/gene-validity/3217.Created: 19 Apr 2017, 1:56 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- ClinGen
- Expert Review Green
- Other
- Phenotypes
-
- Immunodeficiency 18
- ORPHA183660
- OMIM 615615
- OMIM
- 186830
- Clinvar variants
- Variants in CD3E
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
20 Jun 2017, Gel status: 4
Added New Source
Ellen McDonagh (Genomics England Curator)CD3E was added to ClinGen Gene Validity Curationspanel. Source: ClinGen
19 Apr 2017, Gel status: 4
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
19 Apr 2017, Gel status: 0
Added New Source
Ellen McDonagh (Genomics England Curator)CD3E was added to ClinGen Gene Validity Curationspanel. Sources: Other
19 Apr 2017, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)CD3E was created by ellenmcdonagh