Combined Immunodeficiency

Gene: CD3G

Green List (high evidence)

CD3G (CD3g molecule)
EnsemblGeneIds (GRCh38): ENSG00000160654
EnsemblGeneIds (GRCh37): ENSG00000160654
OMIM: 186740, Gene2Phenotype
CD3G is in 5 panels

1 review

Danielle Ariti (University of Melbourne)

Green List (high evidence)

10 affected individuals from 5 unrelated families; homozygous and compound heterozygous variants (splicing, missense and small deletion variants) identified resulting in premature stop codons and truncated protein; multiple mouse models.

All individuals displayed immune deficiency and autoimmunity of variable severity. Some individuals presented at birth with failure to thrive due to lethal SCID features, whilst other CD3G- deficient individuals only display immunological phenotype and no other features. The most common immunologic profile includes partial T lymphocytopenia and low CD3, with normal B cells, NK cells, and immunoglobulins.
Created: 22 Jul 2021, 12:18 a.m. | Last Modified: 26 Jul 2021, 11:53 p.m.
Panel Version: 0.232

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Immunodeficiency 17; CD3 gamma deficient MIM# 615607; immune deficiency; autoimmunity; failure to thrive; recurrent gastrointestinal infections; recurrent respiratory infections; autoimmune haemolytic anaemia; Bronchiolitis obliterans; low CD3 complex; partial T lymphocytopenia; intractable diarrhoea.

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Immunodeficiency 17, CD3 gamma deficient MIM# 615607
  • immune deficiency
  • autoimmunity
  • failure to thrive
  • recurrent gastrointestinal infections
  • recurrent respiratory infections
  • autoimmune haemolytic anaemia
  • Bronchiolitis obliterans
  • low CD3 complex
  • partial T lymphocytopenia
  • intractable diarrhoea.
OMIM
186740
Clinvar variants
Variants in CD3G
Penetrance
None
Publications
Panels with this gene

History Filter Activity

22 Jul 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: cd3g has been classified as Green List (High Evidence).

22 Jul 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: CD3G were changed from Immunodeficiency 17; CD3 gamma deficient MIM# 615607; immune deficiency; autoimmunity; failure to thrive; recurrent gastrointestinal infections; recurrent respiratory infections; autoimmune haemolytic anaemia; Bronchiolitis obliterans; low CD3 complex; partial T lymphocytopenia; intractable diarrhoea. to Immunodeficiency 17, CD3 gamma deficient MIM# 615607; immune deficiency; autoimmunity; failure to thrive; recurrent gastrointestinal infections; recurrent respiratory infections; autoimmune haemolytic anaemia; Bronchiolitis obliterans; low CD3 complex; partial T lymphocytopenia; intractable diarrhoea.

22 Jul 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: CD3G were changed from to Immunodeficiency 17; CD3 gamma deficient MIM# 615607; immune deficiency; autoimmunity; failure to thrive; recurrent gastrointestinal infections; recurrent respiratory infections; autoimmune haemolytic anaemia; Bronchiolitis obliterans; low CD3 complex; partial T lymphocytopenia; intractable diarrhoea.

22 Jul 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: CD3G were set to

22 Jul 2021, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: CD3G was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: CD3G was added gene: CD3G was added to Combined immunodeficiency_MelbourneGenomics_AustralianGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship Mode of inheritance for gene: CD3G was set to Unknown