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  2. Combined Immunodeficiency
  3. CD8A
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Combined Immunodeficiency

Gene: CD8A

Amber List (moderate evidence)
CD8A (CD8a molecule)
EnsemblGeneIds (GRCh38): ENSG00000153563
EnsemblGeneIds (GRCh37): ENSG00000153563
OMIM: 186910, Gene2Phenotype
CD8A is in 2 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Two families of Spanish Gypsy heritage and same homozygous missense variant reported; additional individual in 26563160.
Created: 10 Apr 2020, 2:50 a.m. | Last Modified: 10 Apr 2020, 2:50 a.m.
Panel Version: 0.105

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
CD8 deficiency, familial, MIM# 608957

Publications

Created: 10 Apr 2020, 2:50 a.m.
Last Modified: 10 Apr 2020, 2:50 a.m.
Panel version: 0.105

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • CD8 deficiency, familial, MIM# 608957
OMIM
186910
Clinvar variants
Variants in CD8A
Penetrance
None
Publications
Panels with this gene

History Filter Activity

10 Apr 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: cd8a has been classified as Amber List (Moderate Evidence).

10 Apr 2020, Gel status: 2

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: CD8A were set to

10 Apr 2020, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: CD8A were changed from to CD8 deficiency, familial, MIM# 608957

10 Apr 2020, Gel status: 2

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: CD8A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

10 Apr 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: cd8a has been classified as Amber List (Moderate Evidence).

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: CD8A was added gene: CD8A 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: CD8A was set to Unknown