Primary immunodeficiencyGene: SNORA31
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
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
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
Five unrelated families, four heterozygous variants in small nucleolar RNA gene.
Created: 18 Jan 2020, 7:18 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Herpes simplex encephalitis
Gene: snora31 has been classified as Amber List (Moderate Evidence).
Tag for-review tag was added to gene: SNORA31.
Gene: snora31 has been classified as Green List (High Evidence).
Gene: snora31 has been classified as Red List (Low Evidence).
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