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Primary immunodeficiency

Gene: IL18BP

Red List (low evidence)

IL18BP (interleukin 18 binding protein)
EnsemblGeneIds (GRCh38): ENSG00000137496
EnsemblGeneIds (GRCh37): ENSG00000137496
OMIM: 604113, Gene2Phenotype
IL18BP is in 2 panels

2 reviews

Ivone Leong (Genomics England Curator)

Comment on list classification: Gene given Red gene status based on expert review. This gene is also found in the IUIS 2019 paper (PMID: 31953710)
Created: 22 Apr 2020, 1:04 p.m. | Last Modified: 22 Apr 2020, 1:04 p.m.
Panel Version: 2.119

Zornitza Stark (Australian Genomics)

Red List (low evidence)

Single individual reported with homozygous 40bp deletion in this gene and fulminant Hep A hepatitis.
Sources: Expert list
Created: 16 Apr 2020, 11:50 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
{?Hepatitis, fulminant viral, susceptibility to} 618549

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • {?Hepatitis, fulminant viral, susceptibility to} 618549
OMIM
604113
Clinvar variants
Variants in IL18BP
Penetrance
None
Publications
Panels with this gene

History Filter Activity

22 Apr 2020, Gel status: 1

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: il18bp has been classified as Red List (Low Evidence).

22 Apr 2020, Gel status: 0

Set publications

Ivone Leong (Genomics England Curator)

Publications for gene: IL18BP were set to 31213488

16 Apr 2020, Gel status: 0

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

Zornitza Stark (Australian Genomics)

gene: IL18BP was added gene: IL18BP was added to Primary immunodeficiency. Sources: Expert list Mode of inheritance for gene: IL18BP was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: IL18BP were set to 31213488 Phenotypes for gene: IL18BP were set to {?Hepatitis, fulminant viral, susceptibility to} 618549 Review for gene: IL18BP was set to RED