Primary immunodeficiency or monogenic inflammatory bowel disease
Gene: SNORA31EnsemblGeneIds (GRCh38): ENSG00000199477
EnsemblGeneIds (GRCh37): ENSG00000199477
SNORA31 is in 2 panels
4 reviews
Arina Puzriakova (Genomics England Curator)
Comment on phenotypes: OMIM phenotype accessed on 20-03-2026Created: 20 Mar 2026, 10:41 a.m. | Last Modified: 20 Mar 2026, 10:41 a.m.
Panel Version: 8.87
The rating of this gene has been updated following NHS Genomic Medicine Service approval.Created: 4 Mar 2022, 10:17 a.m. | Last Modified: 4 Mar 2022, 10:17 a.m.
Panel Version: 2.529
Comment on list classification: Changed rating from Green to Amber so that Green genes on this panel reflect the NHS signed-off version. This will be reviewed at the next GMS panel update (added 'for-review' tag).Created: 20 Oct 2020, 3:51 p.m. | Last Modified: 20 Oct 2020, 3:51 p.m.
Panel Version: 2.368
Catherine Snow (Genomics England)
Comment on list classification: Rating as Green following external reviewCreated: 9 Apr 2020, 4:23 p.m. | Last Modified: 9 Apr 2020, 4:23 p.m.
Panel Version: 2.47
Louise Daugherty (Genomics England Curator)
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
Owen Siggs (Flinders University)
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
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Green
- Phenotypes
-
- {Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 10}, OMIM:619396
- Tags
- Clinvar variants
- Variants in SNORA31
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: SNORA31 were changed from Herpes simplex encephalitis to {Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 10}, OMIM:619396
Removed Tag
Arina Puzriakova (Genomics England Curator)Tag gene-checked was removed from gene: SNORA31.
Added Tag
Sarah Leigh (Genomics England Curator)Tag locus-type-small-nucleolar tag was added to gene: SNORA31.
Added Tag
Eleanor Williams (Genomics England Curator)Tag gene-checked tag was added to gene: SNORA31.
Removed Tag
Arina Puzriakova (Genomics England Curator)Tag for-review was removed from gene: SNORA31.
Added New Source, Status Update
Arina Puzriakova (Genomics England Curator)Source Expert Review Green was added to SNORA31. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Entity classified by Genomics England curator
Arina Puzriakova (Genomics England Curator)Gene: snora31 has been classified as Amber List (Moderate Evidence).
Added Tag
Arina Puzriakova (Genomics England Curator)Tag for-review tag was added to gene: SNORA31.
Entity classified by Genomics England curator
Catherine Snow (Genomics England)Gene: snora31 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Louise Daugherty (Genomics England Curator)Gene: snora31 has been classified as Red List (Low Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Owen Siggs (Flinders University)gene: SNORA31 was added gene: SNORA31 was added to Primary immunodeficiency. Sources: 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 Review for gene: SNORA31 was set to GREEN