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  2. Combined Immunodeficiency
  3. CD28
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Combined Immunodeficiency

Gene: CD28

Amber List (moderate evidence)
CD28 (CD28 molecule)
EnsemblGeneIds (GRCh38): ENSG00000178562
EnsemblGeneIds (GRCh37): ENSG00000178562
OMIM: 186760, Gene2Phenotype
CD28 is in 3 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

I don't know

A single family reported and supporting mouse model. IUIS IEI committee classify the gene as a Combined immunodeficiency with associated or syndromic features.
Sources: Expert list
Created: 11 Nov 2024, 7 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Immunodeficiency-123 with HPV-related verrucosis (IMD123), MIM#620901

Publications

Created: 11 Nov 2024, 7 a.m.

Panel version: 1.104

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert list
Phenotypes
  • Immunodeficiency-123 with HPV-related verrucosis (IMD123), MIM#620901
OMIM
186760
Clinvar variants
Variants in CD28
Penetrance
None
Publications
Panels with this gene

History Filter Activity

11 Nov 2024, Gel status: 2

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: cd28 has been classified as Amber List (Moderate Evidence).

11 Nov 2024, Gel status: 2

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: cd28 has been classified as Amber List (Moderate Evidence).

11 Nov 2024, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

gene: CD28 was added gene: CD28 was added to Combined Immunodeficiency. Sources: Expert list Mode of inheritance for gene: CD28 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CD28 were set to 34214472 Phenotypes for gene: CD28 were set to Immunodeficiency-123 with HPV-related verrucosis (IMD123), MIM#620901 Review for gene: CD28 was set to AMBER