Defects of intrinsic and innate immunity
Gene: SNORA31EnsemblGeneIds (GRCh38): ENSG00000199477
EnsemblGeneIds (GRCh37): ENSG00000199477
SNORA31 is in 3 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Five unrelated individuals reported with rare missense variants in this gene, functional data to support susceptibility to herpes simplex encephalitis.
Sources: Expert listCreated: 29 Apr 2020, 8:10 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
{Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 1}, MIM# 619396
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Expert list
- Expert Review Green
- Expert list
- Phenotypes
-
- encephalitis, acute, infection-induced, susceptibility to MONDO:0800174
- Clinvar variants
- Variants in SNORA31
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: snora31 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: SNORA31 was added gene: SNORA31 was added to Defects of innate immunity. Sources: Expert list Mode of inheritance for gene: SNORA31 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SNORA31 were set to 31806906 Phenotypes for gene: SNORA31 were set to encephalitis, acute, infection-induced, susceptibility to MONDO:0800174