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  2. Inflammatory bowel disease
  3. SOCS1
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Inflammatory bowel disease

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

1 review

Peter McNaughton (Queensland Children's Hospital)

Green List (high evidence)

2x patients 1x presenting with treatment refractory Crohn-like disease and 1 with lymphocytic leiomyositis. Potential for targeted therapies leading to remission so important to differentiate from polygenic IBD.
Sources: Literature
Created: 18 Jul 2023, 5:15 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Enteropathy

Publications

Created: 18 Jul 2023, 5:15 a.m.

Panel version: 0.101

Details

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

History Filter Activity

25 Jul 2023, 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).

25 Jul 2023, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

25 Jul 2023, 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).

18 Jul 2023, Gel status: 0

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

Peter McNaughton (Queensland Children's Hospital)

gene: SOCS1 was added gene: SOCS1 was added to Inflammatory bowel disease. Sources: Literature Mode of inheritance for gene: SOCS1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SOCS1 were set to PMID: 37156989 Phenotypes for gene: SOCS1 were set to Enteropathy Review for gene: SOCS1 was set to GREEN