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Additional findings_Paediatric

Gene: CD3D

Green List (high evidence)

CD3D (CD3d molecule)
EnsemblGeneIds (GRCh38): ENSG00000167286
EnsemblGeneIds (GRCh37): ENSG00000167286
OMIM: 186790, Gene2Phenotype
CD3D is in 7 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

SCID phenotype, treatable by BMT. Included in NC Nexus panel.
Sources: Expert list
Created: 25 Sep 2020, 6:20 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Immunodeficiency 19, MIM# 615617

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Immunodeficiency 19, MIM# 615617
OMIM
186790
Clinvar variants
Variants in CD3D
Penetrance
None
Panels with this gene

History Filter Activity

25 Sep 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: cd3d has been classified as Green List (High Evidence).

25 Sep 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: cd3d has been classified as Green List (High Evidence).

25 Sep 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: CD3D was added gene: CD3D was added to Newborn Screening_BabySeq. Sources: Expert list Mode of inheritance for gene: CD3D was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CD3D were set to Immunodeficiency 19, MIM# 615617 Review for gene: CD3D was set to GREEN