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STRs in panel
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Primary immunodeficiency

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

4 reviews

Arina Puzriakova (Genomics England Curator)

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 review
Created: 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)

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

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

Details

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

History Filter Activity

8 May 2022, Gel status: 3

Added Tag

Eleanor Williams (Genomics England Curator)

Tag gene-checked tag was added to gene: SNORA31.

4 Mar 2022, Gel status: 3

Removed Tag

Arina Puzriakova (Genomics England Curator)

Tag for-review was removed from gene: SNORA31.

4 Mar 2022, Gel status: 3

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)

20 Oct 2020, Gel status: 2

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: snora31 has been classified as Amber List (Moderate Evidence).

20 Oct 2020, Gel status: 3

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag for-review 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).

26 Feb 2020, Gel status: 1

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Gene: snora31 has been classified as Red List (Low Evidence).

18 Jan 2020, Gel status: 0

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