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STRs in panel
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Primary immunodeficiency

Gene: SNORA31

Amber List (moderate 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)

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 Amber
Phenotypes
  • Herpes simplex encephalitis
Tags
for-review
Clinvar variants
Variants in SNORA31
Penetrance
None
Publications
Panels with this gene

History Filter Activity

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