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Primary immunodeficiency or monogenic inflammatory bowel disease v4.74 | JAK1 | Achchuthan Shanmugasundram Classified gene: JAK1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease v4.74 | JAK1 | Achchuthan Shanmugasundram Gene: jak1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease v4.73 | JAK1 | Achchuthan Shanmugasundram Phenotypes for gene: JAK1 were changed from Susceptibility to mycobacteria and viruses, urothelial carcinoma; Hypereosinophilic syndrome; Defects in Intrinsic and Innate Immunity; Diseases of Immune Dysregulation; HSM, eosinophilic enteritis, thyroid disease, poor growth, viral infections; HSM, eosinophilia, eosinophilic enteritis, thyroid disease, poor growth, viral infections to Autoinflammation, immune dysregulation, and eosinophilia, OMIM:618999 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease v4.72 | JAK1 | Achchuthan Shanmugasundram Publications for gene: JAK1 were set to 32086639; 28111307; 32048120; 28008925; 30671064; 32750333; 34496019; 35046931 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease v4.71 | JAK1 | Achchuthan Shanmugasundram Publications for gene: JAK1 were set to 32086639; 28111307; 32048120 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease v4.70 | JAK1 | Achchuthan Shanmugasundram changed review comment from: Comment on mode of pathogenicity: Two of monoallelic variants were shown to be gain-of-function, one is mosaic and the other is somatic. Hence, MOP is set as 'Other'. In addition, 'mosaicsm' and 'somatic' tags were added.; to: Comment on mode of pathogenicity: Two of monoallelic variants were shown to be gain-of-function, one is mosaic and the other is somatic. Hence, MOP is set as 'Other'. In addition, 'mosaicism' and 'somatic' tags were added. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease v4.70 | JAK1 |
Achchuthan Shanmugasundram Tag mosaicism tag was added to gene: JAK1. Tag somatic tag was added to gene: JAK1. |
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Primary immunodeficiency or monogenic inflammatory bowel disease v4.70 | JAK1 | Achchuthan Shanmugasundram Mode of pathogenicity for gene: JAK1 was changed from None to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease v4.69 | JAK1 | Achchuthan Shanmugasundram Added comment: Comment on mode of pathogenicity: Two of monoallelic variants were shown to be gain-of-function, one is mosaic and the other is somatic. Hence, MOP is set as 'Other'. In addition, 'mosaicsm' and 'somatic' tags were added. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease v4.69 | JAK1 | Achchuthan Shanmugasundram Mode of pathogenicity for gene: JAK1 was changed from Other - please provide details in the comments to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease v4.68 | JAK1 | Achchuthan Shanmugasundram Added comment: Comment on mode of inheritance: There is sufficient evidence available for the association of monoallelic variants in this gene to Autoinflammation, immune dysregulation, and eosinophilia (MIM #618999). However, the evidence for the association of biallelic variants is not sufficient for green rating. Hence, the MOI is set as 'MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted'. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease v4.68 | JAK1 | Achchuthan Shanmugasundram Mode of inheritance for gene: JAK1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease v4.67 | JAK1 |
Achchuthan Shanmugasundram Tag Q4_23_promote_green tag was added to gene: JAK1. Tag Q4_23_NHS_review tag was added to gene: JAK1. |
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Primary immunodeficiency or monogenic inflammatory bowel disease v4.67 | JAK1 | Achchuthan Shanmugasundram reviewed gene: JAK1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 28008925, 28111307, 30671064, 32750333, 34496019, 35046931; Phenotypes: Autoinflammation, immune dysregulation, and eosinophilia, OMIM:618999; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease v4.35 | JAK1 |
Hannah Knight changed review comment from: Now four families reported, and variants seem to cluster. PMID: 28111307 - mother and two sons with immune disorder. De novo variant in mother, also in both children (p.A634D) PMID: 32750333 - early-onset multi-organ immune dysregulation resulting from a mosaic variant not found in either parent (p.S703I) PMID: 34496019 - somatic variant found in a patient with hypereosinophilia (p.R629_S632delinsSA) PMID: 35046931 - novel variant (p.H596D) in an individual with a unique autoinflammatory keratinization disease Also one report of biallelic disease in 2016 (PMID: 28008925), but none others since then; to: Now four families reported, and variants seem to cluster. PMID: 28111307 - mother and two sons with immune disorder. De novo variant in mother, also in both children (p.A634D) PMID: 32750333 - early-onset multi-organ immune dysregulation resulting from a mosaic variant not found in either parent (p.S703I) PMID: 34496019 - somatic variant found in a patient with hypereosinophilia (p.R629_S632delinsSA) PMID: 35046931 - novel variant (p.H596D) in an individual with a unique autoinflammatory keratinization disease Also one report of biallelic disease in 2016 (PMID: 28008925), but none others since then |
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Primary immunodeficiency or monogenic inflammatory bowel disease v4.35 | JAK1 | Hannah Knight reviewed gene: JAK1: Rating: GREEN; Mode of pathogenicity: None; Publications: 28111307, 32750333, 34496019, 35046931; Phenotypes: Autoinflammation, immune dysregulation, and eosinophilia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease v2.209 | JAK1 |
Eleanor Williams Source Other was added to JAK1. Publications for gene JAK1 were updated from 32048120; 28111307; 32086639 to 32086639; 28111307; 32048120 |
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Primary immunodeficiency or monogenic inflammatory bowel disease v2.208 | JAK1 | Eleanor Williams reviewed gene: JAK1: Rating: ; Mode of pathogenicity: ; Publications: 28111307; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease v2.34 | JAK1 |
Louise Daugherty Source IUIS Classification December 2019 was added to JAK1. Mode of inheritance for gene JAK1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Added phenotypes Diseases of Immune Dysregulation; HSM, eosinophilic enteritis, thyroid disease, poor growth, viral infections for gene: JAK1 Publications for gene JAK1 were updated from 28111307 to 32048120; 28111307; 32086639 |
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Primary immunodeficiency or monogenic inflammatory bowel disease | JAK1 | Louise Daugherty marked gene: JAK1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease | JAK1 | Louise Daugherty commented on gene: JAK1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease | JAK1 | Sophie Hambleton reviewed gene: JAK1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease | JAK1 | Louise Daugherty Added gene to panel |