Susceptibility to Viral Infections
Gene: IL27RAEnsemblGeneIds (GRCh38): ENSG00000104998
EnsemblGeneIds (GRCh37): ENSG00000104998
OMIM: 605350, Gene2Phenotype
IL27RA is in 3 panels
1 review
Ain Roesley (Victorian Clinical Genetics Services)
3 children from 2 families with severe acute EBV infection.
fam1: homozygous for p.(Gln96*) (NMD-pred)
fam2: chet for p.(Arg446Gly) and c.1142-2A>C
the splice variant in fam2 was found to to result in an in-frame deletion p.(Gln381_Ala395del)
the missense in fam2 is hypothesised to be a hypomorphic allele:
- out of 15 Homs in the Finnish database, 2 had hospital diagnoses of EBV IM
- expression of this variant on its own results in a weak but detectable IL-27RA expression associated with significant increase in STAT1/3 phosphorus in response to IL-27 stimulation
borderline amber/green due to functional studies performed
Sources: LiteratureCreated: 30 Apr 2024, 5:45 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Epstein-Barr virus infection MONDO:0005111 , IL27RA-related
Publications
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Amber
- Literature
- Phenotypes
-
- Epstein-Barr virus infection MONDO:0005111 , IL27RA-related
- OMIM
- 605350
- Clinvar variants
- Variants in IL27RA
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Ain Roesley (Victorian Clinical Genetics Services)Gene: il27ra has been classified as Amber List (Moderate Evidence).
Entity classified by Genomics England curator
Ain Roesley (Victorian Clinical Genetics Services)Gene: il27ra has been classified as Amber List (Moderate Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Ain Roesley (Victorian Clinical Genetics Services)gene: IL27RA was added gene: IL27RA was added to Susceptibility to Viral Infections. Sources: Literature Mode of inheritance for gene: IL27RA was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: IL27RA were set to 38509369 Phenotypes for gene: IL27RA were set to Epstein-Barr virus infection MONDO:0005111 , IL27RA-related Review for gene: IL27RA was set to AMBER gene: IL27RA was marked as current diagnostic