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Primary immunodeficiency or monogenic inflammatory bowel disease v5.3 STAT6 Achchuthan Shanmugasundram Tag watchlist was removed from gene: STAT6.
Tag Q4_23_promote_green was removed from gene: STAT6.
Tag treatable tag was added to gene: STAT6.
Primary immunodeficiency or monogenic inflammatory bowel disease v5.3 STAT6 Sarah Leigh reviewed gene: STAT6: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Primary immunodeficiency or monogenic inflammatory bowel disease v5.2 STAT6 Achchuthan Shanmugasundram Source NHS GMS was added to STAT6.
Source Expert Review Green was added to STAT6.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v4.148 STAT6 Achchuthan Shanmugasundram Publications for gene: STAT6 were set to 36884218
Primary immunodeficiency or monogenic inflammatory bowel disease v4.147 STAT6 Achchuthan Shanmugasundram changed review comment from: Comment on list classification: There is sufficient evidence available for the promotion of this gene to green rating in the next GMS review.; to: Comment on list classification: There is sufficient evidence available (12 unrelated families and functional data) for the promotion of this gene to green rating in the next GMS review.
Primary immunodeficiency or monogenic inflammatory bowel disease v4.147 STAT6 Achchuthan Shanmugasundram Classified gene: STAT6 as Amber List (moderate evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v4.147 STAT6 Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence available for the promotion of this gene to green rating in the next GMS review.
Primary immunodeficiency or monogenic inflammatory bowel disease v4.147 STAT6 Achchuthan Shanmugasundram Gene: stat6 has been classified as Amber List (Moderate Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v4.146 STAT6 Achchuthan Shanmugasundram Tag Q4_23_promote_green tag was added to gene: STAT6.
Primary immunodeficiency or monogenic inflammatory bowel disease v4.146 STAT6 Achchuthan Shanmugasundram Deleted their comment
Primary immunodeficiency or monogenic inflammatory bowel disease v4.146 STAT6 Achchuthan Shanmugasundram edited their review of gene: STAT6: Added comment: As reviewed by Dmitrijs Rots, PMID:36884218 reported 16 cases from 10 families with heterozygous STAT6 variants and severe early-onset allergic disease consisting of clinical features including severe, treatment-resistant atopic dermatitis (15/16) and food allergies (15/16) were the most common clinical manifestations, followed by asthma (11/16) and eosinophilic gastrointestinal disease (10/16) and severe episodes of anaphylaxis (9/16).

PMID:36216080 reported heterozygous STAT6 variant with early-onset multiorgan allergies in a family with
3 affected members and PMID:36758835 reported another child with severe atopic dermatitis, eosinophilia and elevated IgE. All these publications also provided extensive functional data which confirms the mechanism as gain-of-function.

This gene has already been associated with relevant phenotypes in OMIM (MIM #620532), but not yet in Gene2Phenotype.; Changed publications to: 36216080, 36758835, 36884218
Primary immunodeficiency or monogenic inflammatory bowel disease v4.146 STAT6 Achchuthan Shanmugasundram Phenotypes for gene: STAT6 were changed from allergic disease, MONDO:0005271 to Hyper-IgE syndrome 6, autosomal dominant, with recurrent infections, OMIM:620532
Primary immunodeficiency or monogenic inflammatory bowel disease v4.145 STAT6 Achchuthan Shanmugasundram edited their review of gene: STAT6: Changed phenotypes to: Hyper-IgE syndrome 6, autosomal dominant, with recurrent infections, OMIM:620532
Primary immunodeficiency or monogenic inflammatory bowel disease v4.145 STAT6 Achchuthan Shanmugasundram changed review comment from: Comment on list classification: As reviewed by Dmitrijs Rots, there is sufficient evidence available for the promotion of this gene to green rating in the next GMS review.; to: Comment on list classification: As reviewed by Dmitrijs Rots, there is sufficient evidence available for the promotion of this gene to green rating in the next GMS review. In addition, functional evidence shows that the mechanism is gain-of-function.
Primary immunodeficiency or monogenic inflammatory bowel disease v4.145 STAT6 Achchuthan Shanmugasundram Classified gene: STAT6 as Amber List (moderate evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v4.145 STAT6 Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Dmitrijs Rots, there is sufficient evidence available for the promotion of this gene to green rating in the next GMS review.
Primary immunodeficiency or monogenic inflammatory bowel disease v4.145 STAT6 Achchuthan Shanmugasundram Gene: stat6 has been classified as Amber List (Moderate Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v4.144 STAT6 Achchuthan Shanmugasundram Phenotypes for gene: STAT6 were changed from Primary Atopic Disorder; Atopy; Vascular anomalies; Atopic dermamatitis; Allergy; Atopy; Hyper-IgE; elevated IgE; Eosinophilic esophagitis; Food allergies to allergic disease, MONDO:0005271
Primary immunodeficiency or monogenic inflammatory bowel disease v4.143 STAT6 Achchuthan Shanmugasundram Publications for gene: STAT6 were set to
Primary immunodeficiency or monogenic inflammatory bowel disease v4.142 STAT6 Achchuthan Shanmugasundram Mode of inheritance for gene: STAT6 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Primary immunodeficiency or monogenic inflammatory bowel disease v4.141 STAT6 Achchuthan Shanmugasundram reviewed gene: STAT6: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: 36884218; Phenotypes: allergic disease, MONDO:0005271; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Primary immunodeficiency or monogenic inflammatory bowel disease v3.9 STAT6 Dmitrijs Rots reviewed gene: STAT6: Rating: GREEN; Mode of pathogenicity: None; Publications: 36884218; Phenotypes: Eosinophilia, severe allergy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Primary immunodeficiency or monogenic inflammatory bowel disease v2.569 STAT6 Arina Puzriakova Classified gene: STAT6 as Red List (low evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.569 STAT6 Arina Puzriakova Added comment: Comment on list classification: Two unrelated patients with early-life onset of allergic immune dysregulation described in preprint by Sharma et al. as per review by Boaz Palterer. Red rating may be reconsidered following peer review of paper but additional cases would be required to reach a diagnostic level of evidence.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.569 STAT6 Arina Puzriakova Gene: stat6 has been classified as Red List (Low Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.568 STAT6 Arina Puzriakova Tag watchlist tag was added to gene: STAT6.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.550 STAT6 Boaz Palterer gene: STAT6 was added
gene: STAT6 was added to Primary immunodeficiency. Sources: Literature
Mode of inheritance for gene: STAT6 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: STAT6 were set to Primary Atopic Disorder; Atopy; Vascular anomalies; Atopic dermamatitis; Allergy; Atopy; Hyper-IgE; elevated IgE; Eosinophilic esophagitis; Food allergies
Penetrance for gene: STAT6 were set to unknown
Mode of pathogenicity for gene: STAT6 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Review for gene: STAT6 was set to RED
Added comment: Sharma et al. identified two patients from two kindreds with early-onset severe primary atopic disorder carrying de novo heterozygous STAT6 gain-of-function mutations ( https://www.medrxiv.org/content/10.1101/2022.04.25.22274265v1 ).
Extensive functional data is provided and the phenotype of GOF STAT6 variants was previously predicted (https://pubmed.ncbi.nlm.nih.gov/10747856/).
Sources: Literature