Combined Immunodeficiency
Gene: CD3GEnsemblGeneIds (GRCh38): ENSG00000160654
EnsemblGeneIds (GRCh37): ENSG00000160654
OMIM: 186740, Gene2Phenotype
CD3G is in 5 panels
1 review
Danielle Ariti (University of Melbourne)
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
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: cd3g has been classified as Green List (High Evidence).
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.
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.
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: CD3G were set to
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
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