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Primary immunodeficiency or monogenic inflammatory bowel disease v8.87 SNORA31 Arina Puzriakova Added comment: Comment on phenotypes: OMIM phenotype accessed on 20-03-2026
Primary immunodeficiency or monogenic inflammatory bowel disease v8.87 SNORA31 Arina Puzriakova Phenotypes for gene: SNORA31 were changed from Herpes simplex encephalitis to {Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 10}, OMIM:619396
Primary immunodeficiency or monogenic inflammatory bowel disease v8.86 SNORA31 Arina Puzriakova Tag gene-checked was removed from gene: SNORA31.
Primary immunodeficiency or monogenic inflammatory bowel disease v5.10 SNORA31 Sarah Leigh Tag locus-type-small-nucleolar tag was added to gene: SNORA31.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.548 SNORA31 Eleanor Williams Tag gene-checked tag was added to gene: SNORA31.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.529 SNORA31 Arina Puzriakova Tag for-review was removed from gene: SNORA31.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.529 SNORA31 Arina Puzriakova commented on gene: SNORA31: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.528 SNORA31 Arina Puzriakova Source Expert Review Green was added to SNORA31.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.368 SNORA31 Arina Puzriakova Classified gene: SNORA31 as Amber List (moderate evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.368 SNORA31 Arina Puzriakova Added comment: 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).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.368 SNORA31 Arina Puzriakova Gene: snora31 has been classified as Amber List (Moderate Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.367 SNORA31 Arina Puzriakova Tag for-review tag was added to gene: SNORA31.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.47 SNORA31 Catherine Snow Classified gene: SNORA31 as Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.47 SNORA31 Catherine Snow Added comment: Comment on list classification: Rating as Green following external review
Primary immunodeficiency or monogenic inflammatory bowel disease v2.47 SNORA31 Catherine Snow Gene: snora31 has been classified as Green List (High Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.9 SNORA31 Louise Daugherty Classified gene: SNORA31 as Red List (low evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.9 SNORA31 Louise Daugherty Added comment: Comment on list classification: New gene added for review
Primary immunodeficiency or monogenic inflammatory bowel disease v2.9 SNORA31 Louise Daugherty Gene: snora31 has been classified as Red List (Low Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.0 SNORA31 Louise Daugherty reviewed gene: SNORA31: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Primary immunodeficiency or monogenic inflammatory bowel disease v2.0 SNORA31 Owen Siggs 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
Added comment: Five unrelated families, four heterozygous variants in small nucleolar RNA gene.
Sources: Literature