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STRs in panel
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Primary immunodeficiency

Gene: SOCS1

Amber List (moderate 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)

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 Amber
Phenotypes
  • Common variable immunodeficiency
  • Early-onset autoimmunity
Tags
for-review
OMIM
603597
Clinvar variants
Variants in SOCS1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

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