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  2. Disorders of immune dysregulation
  3. SOCS1
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Disorders of immune dysregulation

Gene: SOCS1

Green List (high evidence)
SOCS1 (suppressor of cytokine signaling 1)
EnsemblGeneIds (GRCh38): ENSG00000185338
EnsemblGeneIds (GRCh37): ENSG00000185338
OMIM: 603597, Gene2Phenotype
SOCS1 is in 4 panels

3 reviews

Peter McNaughton (Queensland Children's Hospital)

Green List (high evidence)

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

Created: 28 Oct 2022, 4:58 a.m.
Last Modified: 28 Oct 2022, 4:58 a.m.
Panel version: 0.160

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

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: Literature
Created: 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

Created: 2 Nov 2020, 4:16 a.m.

Panel version: 0.83

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

2 unrelated families with truncating variants with supportive immunophenotyping of patient cells, and supporting null mouse models.
Sources: Literature
Created: 30 Jul 2020, 2:29 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Common variable immunodeficiency

Publications

Created: 30 Jul 2020, 2:29 a.m.

Panel version: Imported from Mendeliome panel version 0.3582

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
  • Expert Review Green
  • Literature
Phenotypes
  • Autoinflammatory syndrome, familial, with or without immunodeficiency, MIM# 619375
  • Early-onset autoimmunity
OMIM
603597
Clinvar variants
Variants in SOCS1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

28 Oct 2022, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: SOCS1 were set to 33087723

20 Jun 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: SOCS1 were changed from Early-onset autoimmunity to Autoinflammatory syndrome, familial, with or without immunodeficiency, MIM# 619375; Early-onset autoimmunity

2 Nov 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: socs1 has been classified as Green List (High Evidence).

2 Nov 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: socs1 has been classified as Green List (High Evidence).

2 Nov 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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