Disorders of immune dysregulation
Gene: SOCS1
Patient with severe enthesitits, bone marrow hypocellularity and ITP.Created: 28 Oct 2022, 4:58 a.m. | Last Modified: 28 Oct 2022, 4:58 a.m.
Panel Version: 0.160
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Early onset autoimmunity
Publications
Ten individuals from 5 unrelated families with LOF variants in this gene and early-onset autoimmunity. Functional data indicates cytokine hypersensitivity of immune cells.
Sources: LiteratureCreated: 2 Nov 2020, 4:16 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Autoinflammatory syndrome, familial, with or without immunodeficiency, MIM# 619375; Early-onset autoimmunity
Publications
2 unrelated families with truncating variants with supportive immunophenotyping of patient cells, and supporting null mouse models.
Sources: LiteratureCreated: 30 Jul 2020, 2:29 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Common variable immunodeficiency
Publications
Publications for gene: SOCS1 were set to 33087723
Phenotypes for gene: SOCS1 were changed from Early-onset autoimmunity to Autoinflammatory syndrome, familial, with or without immunodeficiency, MIM# 619375; Early-onset autoimmunity
Gene: socs1 has been classified as Green List (High Evidence).
Gene: socs1 has been classified as Green List (High Evidence).
gene: SOCS1 was added gene: SOCS1 was added to Disorders of immune dysregulation. Sources: Literature Mode of inheritance for gene: SOCS1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SOCS1 were set to 33087723 Phenotypes for gene: SOCS1 were set to Early-onset autoimmunity Review for gene: SOCS1 was set to GREEN