Primary immunodeficiency or monogenic inflammatory bowel disease

Gene: SOCS1

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: There is sufficient evidence to rate this gene Green at the next GMS panel update (added 'for-review' tag) - at least 7 unrelated families with immune dysfunction associated with variants in this gene, as well as supportive functional data and animal model.

Created: 24 Nov 2020, 9:53 a.m. | Last Modified: 24 Nov 2020, 9:53 a.m.

Panel Version: 2.370

Green List (high evidence)

PMID 33087723: Ten individuals from 5 unrelated families with LOF variants in this gene and early-onset autoimmunity. Functional data indicates cytokine hypersensitivity of immune cells.

Created: 4 Nov 2020, 2:44 a.m. | Last Modified: 4 Nov 2020, 2:44 a.m.

Panel Version: 2.369

2 unrealted families with truncating variants with supportive immunophenotyping of patient cells, and supporting null mouse models.
Sources: Literature

Created: 3 Aug 2020, 11 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Common variable immunodeficiency; Early-onset autoimmunity

Publications

• 32499645
• 10490099
• 10490100
• 33087723

Variants in this GENE are reported as part of current diagnostic practice