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  2. Defects of intrinsic and innate immunity
  3. IKBKE
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Defects of intrinsic and innate immunity

Gene: IKBKE

Amber List (moderate evidence)
IKBKE (inhibitor of nuclear factor kappa B kinase subunit epsilon)
OMIM: 605048, Gene2Phenotype
IKBKE is in 3 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Encephalitis, acute, infection-induced, susceptibility to, MONDO:0800174, IKBKE-related

Created: 2 Aug 2024, 12:53 a.m.
Last Modified: 2 Aug 2024, 12:53 a.m.
Panel version: Imported from Susceptibility to Viral Infections panel version 0.118

Peter McNaughton (Queensland Children's Hospital)

I don't know

Single patient with recurrent HSV meningitis with supportive functional data.
Sources: Literature
Created: 29 Jul 2024, 5:39 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Recurrent HSV encephalitis

Publications

Created: 29 Jul 2024, 5:39 a.m.

Panel version: Imported from Susceptibility to Viral Infections panel version 0.117

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Expert list
Phenotypes
  • Encephalitis, acute, infection-induced, susceptibility to, MONDO:0800174, IKBKE-related
OMIM
605048
Clinvar variants
Variants in IKBKE
Penetrance
None
Publications
Panels with this gene

History Filter Activity

15 Dec 2024, Gel status: 2

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

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

15 Dec 2024, Gel status: 2

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

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

15 Dec 2024, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

gene: IKBKE was added gene: IKBKE was added to Defects of innate immunity. Sources: Expert list Mode of inheritance for gene: IKBKE was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: IKBKE were set to 37937644 Phenotypes for gene: IKBKE were set to Encephalitis, acute, infection-induced, susceptibility to, MONDO:0800174, IKBKE-related