Disorders of immune dysregulation
Gene: SYKEnsemblGeneIds (GRCh38): ENSG00000165025
EnsemblGeneIds (GRCh37): ENSG00000165025
OMIM: 600085, Gene2Phenotype
SYK is in 3 panels
2 reviews
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Immunodeficiency-82 with systemic inflammation (IMD82) , MIM#619381
Paul De Fazio (Victorian Clinical Genetics Services)
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: LiteratureCreated: 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
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Green
- Phenotypes
-
- Immunodeficiency-82 with systemic inflammation (IMD82) , MIM#619381
- OMIM
- 600085
- Clinvar variants
- Variants in SYK
- Penetrance
- None
- Publications
- Mode of Pathogenicity
- Other
- Panels with this gene
History Filter Activity
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: SYK were changed from Immune dysregulation and systemic inflammation to Immunodeficiency-82 with systemic inflammation (IMD82) , MIM#619381
Entity classified by Genomics England curator
Alison Yeung (Victorian Clinical Genetics Services)Gene: syk has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Alison Yeung (Victorian Clinical Genetics Services)Gene: syk has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set mode of pathogenicity
Paul De Fazio (Victorian Clinical Genetics Services)gene: SYK was added gene: SYK was added to Disorders of immune dysregulation. Sources: Literature Mode of inheritance for gene: SYK was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SYK were set to 33782605 Phenotypes for gene: SYK were set to Immune dysregulation and systemic inflammation Mode of pathogenicity for gene: SYK was set to Other Review for gene: SYK was set to GREEN gene: SYK was marked as current diagnostic