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STRs in panel
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Primary immunodeficiency

Gene: SOCS1

Green List (high evidence)

SOCS1 (suppressor of cytokine signaling 1)
EnsemblGeneIds (GRCh38): ENSG00000185338
EnsemblGeneIds (GRCh37): ENSG00000185338
OMIM: 603597, Gene2Phenotype
SOCS1 is in 2 panels

2 reviews

Arina Puzriakova (Genomics England Curator)

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

Zornitza Stark (Australian Genomics)

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

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

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Common variable immunodeficiency
  • Early-onset autoimmunity
OMIM
603597
Clinvar variants
Variants in SOCS1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

4 Mar 2022, Gel status: 3

Removed Tag

Arina Puzriakova (Genomics England Curator)

Tag for-review was removed from gene: SOCS1.

4 Mar 2022, Gel status: 3

Added New Source, Status Update

Arina Puzriakova (Genomics England Curator)

Source Expert Review Green was added to SOCS1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

24 Nov 2020, Gel status: 2

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: SOCS1 were changed from Common variable immunodeficiency to Common variable immunodeficiency; Early-onset autoimmunity

24 Nov 2020, Gel status: 2

Set publications

Arina Puzriakova (Genomics England Curator)

Publications for gene: SOCS1 were set to 32499645; 10490099; 10490100

24 Nov 2020, Gel status: 2

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag for-review tag was added to gene: SOCS1.

24 Nov 2020, Gel status: 2

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: socs1 has been classified as Amber List (Moderate Evidence).

10 Aug 2020, Gel status: 2

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: socs1 has been classified as Amber List (Moderate Evidence).

3 Aug 2020, Gel status: 0

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

Zornitza Stark (Australian Genomics)

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