Disorders of immune dysregulation

Gene: CD274

Amber List (moderate evidence)

CD274 (CD274 molecule)
EnsemblGeneIds (GRCh38): ENSG00000120217
EnsemblGeneIds (GRCh37): ENSG00000120217
OMIM: 605402, Gene2Phenotype
CD274 is in 2 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Homozygous for splicing variant. This is the ligand of PD1, deficiency of which is also linked to immune dysregulation. Functional data.
Created: 2 Aug 2024, 1:58 a.m. | Last Modified: 2 Aug 2024, 1:58 a.m.
Panel Version: 0.190

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Immune dysregulation, autoimmunity and auto inflammation, MONDO:0957790

Peter McNaughton (Queensland Children's Hospital)

I don't know

Two siblings, born to second-degree consanguineous parents of Moroccan descent,
both developed neonatal-onset T1D (diagnosed at the ages of 1 day and 7 wk, respectively). One sibling was subsequently diagnosed with asthma at the age of 5 mo, auto-immune hypothyroidism at the age of 3 years, and growth hormone (GH) deficiency at the age of 10 years. He also had mild intellectual disability with delayed language development. By
contrast, his sister had no clinical manifestations other than T1D.
Sources: Literature
Created: 26 Jul 2024, 3:35 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Immune dysregulation

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Immune dysregulation, autoimmunity and auto inflammation, MONDO:0957790
OMIM
605402
Clinvar variants
Variants in CD274
Penetrance
None
Publications
Panels with this gene

History Filter Activity

2 Aug 2024, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: cd274 has been classified as Amber List (Moderate Evidence).

2 Aug 2024, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: CD274 were changed from Immune dysregulation to Immune dysregulation, autoimmunity and auto inflammation, MONDO:0957790

2 Aug 2024, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: cd274 has been classified as Amber List (Moderate Evidence).

26 Jul 2024, Gel status: 0

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

Peter McNaughton (Queensland Children's Hospital)

gene: CD274 was added gene: CD274 was added to Disorders of immune dysregulation. Sources: Literature Mode of inheritance for gene: CD274 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CD274 were set to PMID: 38634869 Phenotypes for gene: CD274 were set to Immune dysregulation Review for gene: CD274 was set to AMBER