Susceptibility to Viral Infections
Gene: RIPK3EnsemblGeneIds (GRCh38): ENSG00000129465
EnsemblGeneIds (GRCh37): ENSG00000129465
OMIM: 605817, Gene2Phenotype
RIPK3 is in 3 panels
1 review
Peter McNaughton (Queensland Children's Hospital)
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: LiteratureCreated: 13 Jul 2023, 1:47 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Recurrent HSV encephalitis
Publications
- PMID: 37083451
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Amber
- Phenotypes
-
- Hereditary susceptibility to infections, MONDO:0015979, RIPK3-related
- Recurrent HSV encephalitis
- OMIM
- 605817
- Clinvar variants
- Variants in RIPK3
- Penetrance
- None
- Publications
-
- PMID: 37083451
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: ripk3 has been classified as Amber List (Moderate Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: RIPK3 were changed from Recurrent HSV encephalitis to Hereditary susceptibility to infections, MONDO:0015979, RIPK3-related; Recurrent HSV encephalitis
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: ripk3 has been classified as Amber List (Moderate Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Peter McNaughton (Queensland Children's Hospital)gene: RIPK3 was added gene: RIPK3 was added to Susceptibility to Viral Infections. Sources: Literature Mode of inheritance for gene: RIPK3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RIPK3 were set to PMID: 37083451 Phenotypes for gene: RIPK3 were set to Recurrent HSV encephalitis Review for gene: RIPK3 was set to AMBER