COVID-19 research
Gene: SNORA31SNORA31 is a small nucleolar RNA which directs conversion of uridine to pseudouridine in rRNA and small nuclear RNA.Heterozygous mutations were discovered in five unrelated patients leading to HSE. Human pluripotent stem cells with SNORA31 deletions using CRISPR/Cas9 are more susceptible to HSV-1.PMID 31806906Created: 10 May 2020, 9:46 p.m. | Last Modified: 10 May 2020, 9:46 p.m.
Panel Version: 0.204
Publications
IUIS geneCreated: 7 May 2020, 12:31 p.m. | Last Modified: 7 May 2020, 12:31 p.m.
Panel Version: 0.201
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
herpes simplex encephalitis
Comment on list classification: Rating Green following external reviewCreated: 9 Apr 2020, 4:24 p.m. | Last Modified: 9 Apr 2020, 4:24 p.m.
Panel Version: 0.77
Comment on list classification: New gene added for reviewCreated: 26 Feb 2020, 4:39 p.m. | Last Modified: 26 Feb 2020, 4:39 p.m.
Panel Version: 2.9
New gene suggested by expert reviewer- unable to do a full curational review (Green rating recommended) as we are waiting for new PanelApp features before this gene can be added to this GMS panel.Created: 22 Jan 2020, 11:36 a.m. | Last Modified: 22 Jan 2020, 11:36 a.m.
Panel Version: 2.0
Five unrelated families, four heterozygous variants in small nucleolar RNA gene.
Sources: LiteratureCreated: 18 Jan 2020, 7:18 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Herpes simplex encephalitis
Publications
Gene: snora31 has been classified as Green List (High Evidence).
gene: SNORA31 was added gene: SNORA31 was added to Viral susceptibility. Sources: Expert Review Red,Literature Mode of inheritance for gene: SNORA31 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SNORA31 were set to 31806906 Phenotypes for gene: SNORA31 were set to Herpes simplex encephalitis