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  2. Severe Combined Immunodeficiency (absent T present B cells)
  3. CD247
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Severe Combined Immunodeficiency (absent T present B cells)

Gene: CD247

Green List (high evidence)
CD247 (CD247 molecule)
EnsemblGeneIds (GRCh38): ENSG00000198821
EnsemblGeneIds (GRCh37): ENSG00000198821
OMIM: 186780, Gene2Phenotype
CD247 is in 3 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Two reports in the literature, note additional two reports in ClinVar; functional data.
Created: 10 Apr 2020, 2:09 a.m. | Last Modified: 10 Apr 2020, 2:09 a.m.
Panel Version: 0.16
Also known as CD3Z. Note one individual reported with homozygous germline nonsense variant, which was present in some T cells, but others had the nonsense variant in combination with one of three different missense somatic variants.
Created: 3 Apr 2020, 3:02 a.m. | Last Modified: 10 Apr 2020, 2:09 a.m.
Panel Version: 0.16

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Immunodeficiency 25, MIM# 610163; Absent T cells; Normal B cells; Normal NK cells

Publications

Created: 3 Apr 2020, 3:02 a.m.
Last Modified: 10 Apr 2020, 2:09 a.m.
Panel version: 0.16

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Immunodeficiency 25, MIM# 610163
  • Absent T cells
  • Normal B cells
  • Normal NK cells
OMIM
186780
Clinvar variants
Variants in CD247
Penetrance
None
Publications
Panels with this gene

History Filter Activity

10 Apr 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: cd247 has been classified as Green List (High Evidence).

3 Apr 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: cd247 has been classified as Red List (Low Evidence).

3 Apr 2020, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: CD247 were changed from to Immunodeficiency 25, MIM# 610163; Absent T cells; Normal B cells; Normal NK cells

3 Apr 2020, Gel status: 1

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: CD247 were set to

3 Apr 2020, Gel status: 1

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: CD247 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

3 Apr 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: cd247 has been classified as Red List (Low Evidence).

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: CD247 was added gene: CD247 was added to Severe combined immunodeficiency (absent T, present B cells)_MGHA_AGHA_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship Mode of inheritance for gene: CD247 was set to Unknown