Primary immunodeficiency or monogenic inflammatory bowel disease
Gene: SOCS1The 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
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: LiteratureCreated: 3 Aug 2020, 11 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Common variable immunodeficiency; Early-onset autoimmunity
Publications
Variants in this GENE are reported as part of current diagnostic practice
Tag for-review was removed from gene: SOCS1.
Source Expert Review Green was added to SOCS1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Phenotypes for gene: SOCS1 were changed from Common variable immunodeficiency to Common variable immunodeficiency; Early-onset autoimmunity
Publications for gene: SOCS1 were set to 32499645; 10490099; 10490100
Tag for-review tag was added to gene: SOCS1.
Gene: socs1 has been classified as Amber List (Moderate Evidence).
Gene: socs1 has been classified as Amber List (Moderate Evidence).
gene: SOCS1 was added gene: SOCS1 was added to Primary immunodeficiency. Sources: Literature Mode of inheritance for gene: SOCS1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SOCS1 were set to 32499645; 10490099; 10490100 Phenotypes for gene: SOCS1 were set to Common variable immunodeficiency Review for gene: SOCS1 was set to GREEN gene: SOCS1 was marked as current diagnostic