Defects of intrinsic and innate immunity
Gene: RIPK3

RIPK3 (receptor interacting serine/threonine kinase 3)
EnsemblGeneIds (GRCh38): ENSG00000129465
EnsemblGeneIds (GRCh37): ENSG00000129465
OMIM: 605817, Gene2Phenotype
RIPK3 is in 3 panels

1 review

Peter McNaughton (Queensland Children's Hospital)

I don't know

Single female patient with independent episodes of HSE at 6 and 17 months of age and with autoimmune encephalitis 1 month after the second episode of HSE with two heterozygous mutations of RIPK3 predicted to be loss of function (pLOF): p. Arg422* (c.1264 C > T, MAF 0.001568, CADD 35) and p. Pro493fs9* (c.1475 C > CC, MAF 0.002611, CADD 24.2).
Extensive supportive functional data including RIPK3 knockout human pluripotent stem cell–derived cortical neurons.
Sources: Literature
Created: 13 Jul 2023, 1:47 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Recurrent HSV encephalitis

Publications

PMID: 37083451

Created: 13 Jul 2023, 1:47 a.m.

Panel version: Imported from Susceptibility to Viral Infections panel version 0.109

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Amber
Expert list

Phenotypes

Hereditary susceptibility to infections, MONDO:0015979, RIPK3-related

OMIM

605817

Clinvar variants

Variants in RIPK3

Penetrance

None

Publications

37083451

Panels with this gene

History Filter Activity

16 Dec 2024, Gel status: 2

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: ripk3 has been classified as Amber List (Moderate Evidence).

16 Dec 2024, Gel status: 1

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