ClinGen Dosage Sensitivity Curation Page


  • Curation Status: Complete

Location Information

  • 11q23.3
  • GRCh37/hg19 chr11: 118,175,295-118,186,890
  • View: NCBI | Ensembl | UCSC
  • GRCh38/hg38 chr11: 118,304,730-118,316,173
  • View: NCBI | Ensembl | UCSC
Select assembly: (NC_000011.9) (NC_000011.10)
  • Haploinsufficiency score: Gene associated with autosomal recessive phenotype
  • Strength of Evidence (disclaimer): Gene associated with autosomal recessive phenotype
  • Haploinsufficiency Phenotype: IMMUNODEFICIENCY 18; IMD18

Haploinsufficiency phenotype comments:

Variants in CD3E have been associated with a form of severe combined immunodeficiency inherited in an autosomal recessive manner. Biallelic loss-of-function variants in CD3E (PMID: 27807805; 15546002) have been reported in association with the phenotype.

  • Triplosensitivity score: 0
  • Strength of Evidence (disclaimer): No evidence for dosage pathogenicity

Triplosensitivity phenotype comment:

At this time, whole gene duplications have not been reported for CD3E.