Susceptibility to Viral Infections
Gene: CD28EnsemblGeneIds (GRCh38): ENSG00000178562
EnsemblGeneIds (GRCh37): ENSG00000178562
OMIM: 186760, Gene2Phenotype
CD28 is in 3 panels
2 reviews
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
CD28-deficient mice are susceptible to cutaneous infections with the mouse papillomavirus MmuPV1.Created: 13 Jul 2022, 8:38 a.m. | Last Modified: 13 Jul 2022, 8:38 a.m.
Panel Version: 0.90
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Immunodeficiency-123 with HPV-related verrucosis (IMD123), MIM#620901
Publications
Peter McNaughton (Queensland Children's Hospital)
Rare homozygous CD28 variant segregates with severe verrucosis in three relatives and supportive functional data.
Sources: LiteratureCreated: 12 Jul 2022, 5:15 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
isolated susceptibility to cutaneous α- and γ-HPVs
Publications
- PMID: 34214472
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Amber
- Phenotypes
-
- Immunodeficiency-123 with HPV-related verrucosis (IMD123), MIM#620901
- isolated susceptibility to cutaneous α- and γ-HPVs
- OMIM
- 186760
- Clinvar variants
- Variants in CD28
- Penetrance
- None
- Publications
-
- PMID: 34214472
- Panels with this gene
History Filter Activity
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: CD28 were changed from Immunodeficiency-123 with HPV-related verrucosis (IMD123), MIM#620901; isolated susceptibility to cutaneous α- and γ-HPVs to Immunodeficiency-123 with HPV-related verrucosis (IMD123), MIM#620901; isolated susceptibility to cutaneous α- and γ-HPVs
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: CD28 were changed from Hereditary predisposition to infections, MONDO:0015979, CD28-related; isolated susceptibility to cutaneous α- and γ-HPVs to Immunodeficiency-123 with HPV-related verrucosis (IMD123), MIM#620901; isolated susceptibility to cutaneous α- and γ-HPVs
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: cd28 has been classified as Amber List (Moderate Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: cd28 has been classified as Amber List (Moderate Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: CD28 were changed from Hereditary predisposition to infections, MONDO:0015979, CD28-related; isolated susceptibility to cutaneous α- and γ-HPVs to Hereditary predisposition to infections, MONDO:0015979, CD28-related; isolated susceptibility to cutaneous α- and γ-HPVs
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: CD28 were changed from isolated susceptibility to cutaneous α- and γ-HPVs to Hereditary predisposition to infections, MONDO:0015979, CD28-related; isolated susceptibility to cutaneous α- and γ-HPVs
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: cd28 has been classified as Red List (Low Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Peter McNaughton (Queensland Children's Hospital)gene: CD28 was added gene: CD28 was added to Susceptibility to Viral Infections. Sources: Literature Mode of inheritance for gene: CD28 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CD28 were set to PMID: 34214472 Phenotypes for gene: CD28 were set to isolated susceptibility to cutaneous α- and γ-HPVs Review for gene: CD28 was set to RED