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Primary immunodeficiency or monogenic inflammatory bowel disease v5.3 DOCK11 Achchuthan Shanmugasundram Tag Q3_23_promote_green was removed from gene: DOCK11.
Primary immunodeficiency or monogenic inflammatory bowel disease v5.3 DOCK11 Sarah Leigh reviewed gene: DOCK11: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Primary immunodeficiency or monogenic inflammatory bowel disease v5.2 DOCK11 Achchuthan Shanmugasundram Source NHS GMS was added to DOCK11.
Source Expert Review Green was added to DOCK11.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v4.29 DOCK11 Achchuthan Shanmugasundram Tag Q3_23_promote_green tag was added to gene: DOCK11.
Primary immunodeficiency or monogenic inflammatory bowel disease v4.29 DOCK11 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 update.; to: 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 v4.29 DOCK11 Achchuthan Shanmugasundram Classified gene: DOCK11 as Amber List (moderate evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v4.29 DOCK11 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 update.
Primary immunodeficiency or monogenic inflammatory bowel disease v4.29 DOCK11 Achchuthan Shanmugasundram Gene: dock11 has been classified as Amber List (Moderate Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v4.28 DOCK11 Achchuthan Shanmugasundram Phenotypes for gene: DOCK11 were changed from early-onset autoimmunity; cytopenia; systemic lupus erythematosus; dermatitis; enteropathy to Autoinflammatory disease, multisystem, with immune dysregulation, X-linked, OMIM:301109
Primary immunodeficiency or monogenic inflammatory bowel disease v4.27 DOCK11 Achchuthan Shanmugasundram Publications for gene: DOCK11 were set to 36952639
Primary immunodeficiency or monogenic inflammatory bowel disease v4.26 DOCK11 Achchuthan Shanmugasundram reviewed gene: DOCK11: Rating: GREEN; Mode of pathogenicity: None; Publications: 36952639, 37342957; Phenotypes: Autoinflammatory disease, multisystem, with immune dysregulation, X-linked, OMIM:301109; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Primary immunodeficiency or monogenic inflammatory bowel disease v4.22 DOCK11 Boaz Palterer gene: DOCK11 was added
gene: DOCK11 was added to Primary immunodeficiency or monogenic inflammatory bowel disease. Sources: Literature
Mode of inheritance for gene: DOCK11 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: DOCK11 were set to 36952639
Phenotypes for gene: DOCK11 were set to early-onset autoimmunity; cytopenia; systemic lupus erythematosus; dermatitis; enteropathy
Penetrance for gene: DOCK11 were set to unknown
Review for gene: DOCK11 was set to GREEN
Added comment: Boussard et al. described 8 male patients, from 7 unrelated families, with hemizygous DOCK11 missense variants leading to reduced DOCK11 expression. The patients presented with early-onset autoimmunity, including cytopenia, systemic lupus erythematosus, skin, and digestive manifestations. Extensive ex vivo and in vitro functional validation.
Sources: Literature