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Primary immunodeficiency or monogenic inflammatory bowel disease v2.529 SOCS1 Arina Puzriakova Tag for-review was removed from gene: SOCS1.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.529 SOCS1 Arina Puzriakova commented on gene: SOCS1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.528 SOCS1 Arina Puzriakova Source Expert Review Green was added to SOCS1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.372 SOCS1 Arina Puzriakova Phenotypes for gene: SOCS1 were changed from Common variable immunodeficiency to Common variable immunodeficiency; Early-onset autoimmunity
Primary immunodeficiency or monogenic inflammatory bowel disease v2.371 SOCS1 Arina Puzriakova Publications for gene: SOCS1 were set to 32499645; 10490099; 10490100
Primary immunodeficiency or monogenic inflammatory bowel disease v2.370 SOCS1 Arina Puzriakova Tag for-review tag was added to gene: SOCS1.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.370 SOCS1 Arina Puzriakova Classified gene: SOCS1 as Amber List (moderate evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.370 SOCS1 Arina Puzriakova Added comment: 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.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.370 SOCS1 Arina Puzriakova Gene: socs1 has been classified as Amber List (Moderate Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.369 SOCS1 Zornitza Stark edited their review of gene: SOCS1: Added comment: 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.; Changed publications: 32499645, 10490099, 10490100, 33087723; Changed phenotypes: Common variable immunodeficiency, Early-onset autoimmunity
Primary immunodeficiency or monogenic inflammatory bowel disease v2.181 SOCS1 Arina Puzriakova Classified gene: SOCS1 as Amber List (moderate evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.181 SOCS1 Arina Puzriakova Gene: socs1 has been classified as Amber List (Moderate Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.175 SOCS1 Zornitza Stark 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
Added comment: 2 unrealted families with truncating variants with supportive immunophenotyping of patient cells, and supporting null mouse models.
Sources: Literature