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COVID-19 research

Gene: SNORA31

Green List (high evidence)
SNORA31 (small nucleolar RNA, H/ACA box 31)
EnsemblGeneIds (GRCh38): ENSG00000199477
EnsemblGeneIds (GRCh37): ENSG00000199477
SNORA31 is in 2 panels

5 reviews

Abdelazeem Elhabyan (Arizona State University)

SNORA31 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 31806906
Created: 10 May 2020, 9:46 p.m. | Last Modified: 10 May 2020, 9:46 p.m.
Panel Version: 0.204

Publications

Created: 10 May 2020, 9:46 p.m.
Last Modified: 10 May 2020, 9:46 p.m.
Panel version: 0.204

Sophie Hambleton (Newcastle University)

Green List (high evidence)

IUIS gene
Created: 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

Created: 7 May 2020, 12:31 p.m.
Last Modified: 7 May 2020, 12:31 p.m.
Panel version: 0.201

Catherine Snow (Genomics England)

Comment on list classification: Rating Green following external review
Created: 9 Apr 2020, 4:24 p.m. | Last Modified: 9 Apr 2020, 4:24 p.m.
Panel Version: 0.77
Created: 9 Apr 2020, 4:24 p.m.
Last Modified: 9 Apr 2020, 4:24 p.m.
Panel version: 0.77

Louise Daugherty (Genomics England Curator)

Green List (high evidence)

Comment on list classification: New gene added for review
Created: 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
Created: 22 Jan 2020, 11:36 a.m.
Last Modified: 22 Jan 2020, 11:36 a.m.
Panel version: Imported from Primary immunodeficiency panel version 2.0

Owen Siggs (Flinders University)

Green List (high evidence)

Five unrelated families, four heterozygous variants in small nucleolar RNA gene.
Sources: Literature
Created: 18 Jan 2020, 7:18 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Herpes simplex encephalitis

Publications

Created: 18 Jan 2020, 7:18 a.m.

Panel version: Imported from Primary immunodeficiency panel version 2.0

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Herpes simplex encephalitis
Tags
locus-type-small-nucleolar
Clinvar variants
Variants in SNORA31
Penetrance
None
Publications
Panels with this gene

History Filter Activity

29 Jul 2024, Gel status: 3

Added Tag

Sarah Leigh (Genomics England Curator)

Tag locus-type-small-nucleolar tag was added to gene: SNORA31.

9 Apr 2020, Gel status: 3

Entity classified by Genomics England curator

Catherine Snow (Genomics England)

Gene: snora31 has been classified as Green List (High Evidence).

1 Apr 2020, Gel status: 1

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

Ellen McDonagh (Genomics England Curator)

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