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  3. SYK
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Autoinflammatory Disorders

Gene: SYK

Green List (high evidence)
SYK (spleen associated tyrosine kinase)
EnsemblGeneIds (GRCh38): ENSG00000165025
EnsemblGeneIds (GRCh37): ENSG00000165025
OMIM: 600085, Gene2Phenotype
SYK is in 3 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Immunodeficiency-82 with systemic inflammation (IMD82) , MIM#619381

Created: 23 Jun 2021, 9:22 a.m.
Last Modified: 23 Jun 2021, 9:22 a.m.
Panel version: Imported from Disorders of immune dysregulation panel version 0.84

Paul De Fazio (Victorian Clinical Genetics Services)

Green List (high evidence)

5 unrelated patients with monoallelic missense variants in SYK with immune deficiency, multi-organ inflammatory disease such as colitis, arthritis and dermatitis, and diffuse large B cell lymphomas. 2 patients were confirmed de novo, others were undetermined. Variants exhibited a GoF effect in functional studies. A knock-in mouse model of a patient variant recapitulated aspects of the human disease.
Sources: Literature
Created: 12 Apr 2021, 5:33 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Immune dysregulation and systemic inflammation

Publications

Mode of pathogenicity
Other

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

Created: 12 Apr 2021, 5:33 a.m.

Panel version: Imported from Disorders of immune dysregulation panel version 0.78

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • immunodeficiency 82 with systemic inflammation MONDO:0030308
OMIM
600085
Clinvar variants
Variants in SYK
Penetrance
None
Publications
Mode of Pathogenicity
Other
Panels with this gene

History Filter Activity

16 Dec 2024, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

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

16 Dec 2024, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

gene: SYK was added gene: SYK was added to Systemic Autoinflammatory Disease_Periodic Fever. Sources: Expert list Mode of inheritance for gene: SYK was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SYK were set to 33782605 Phenotypes for gene: SYK were set to immunodeficiency 82 with systemic inflammation MONDO:0030308 Mode of pathogenicity for gene: SYK was set to Other