Common Variable Immunodeficiency
Gene: SOCS1EnsemblGeneIds (GRCh38): ENSG00000185338
EnsemblGeneIds (GRCh37): ENSG00000185338
OMIM: 603597, Gene2Phenotype
SOCS1 is in 4 panels
2 reviews
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Autoinflammatory syndrome, familial, with or without immunodeficiency, MIM# 619375; Early-onset autoimmunity
Bryony Thompson (Royal Melbourne Hospital)
2 unrealted families with truncating variants with supportive immunophenotyping of patient cells, and supporting null mouse models.
Sources: LiteratureCreated: 30 Jul 2020, 2:23 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Common variable immunodeficiency
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Literature
- Phenotypes
-
- Autoinflammatory syndrome, familial, with or without immunodeficiency, MIM# 619375
- Common variable immunodeficiency
- OMIM
- 603597
- Clinvar variants
- Variants in SOCS1
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: SOCS1 were changed from Common variable immunodeficiency to Autoinflammatory syndrome, familial, with or without immunodeficiency, MIM# 619375; Common variable immunodeficiency
Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)Phenotypes for gene: SOCS1 were changed from Common variant immunodeficiency to Common variable immunodeficiency
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: socs1 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: socs1 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: SOCS1 was added gene: SOCS1 was added to Common Variable 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 variant immunodeficiency Review for gene: SOCS1 was set to GREEN