ClinGen Gene Validity Curations

Gene: CD3E

Green List (high evidence)

CD3E (CD3e molecule)
EnsemblGeneIds (GRCh38): ENSG00000198851
EnsemblGeneIds (GRCh37): ENSG00000198851
OMIM: 186830, Gene2Phenotype
CD3E is in 2 panels

1 review

Ellen McDonagh (Genomics England Curator)

Green List (high evidence)

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