Activity
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10 actions
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| Primary immunodeficiency or monogenic inflammatory bowel disease v7.26 | GNAI2 | Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: GNAI2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v7.26 | GNAI2 | Achchuthan Shanmugasundram reviewed gene: GNAI2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v7.25 | GNAI2 |
Achchuthan Shanmugasundram Source NHS GMS was added to GNAI2. Source Expert Review Green was added to GNAI2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Primary immunodeficiency or monogenic inflammatory bowel disease v7.17 | GNAI2 | Arina Puzriakova Classified gene: GNAI2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v7.17 | GNAI2 | Arina Puzriakova Added comment: Comment on list classification: There is sufficient evidence to promote this gene to Green at the next GMS panel update. Immunodeficiency/immunodysregulation was the most common feature reported in patients with pathogenic GNAI2 variants, supporting inclusion on this panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v7.17 | GNAI2 | Arina Puzriakova Gene: gnai2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v7.16 | GNAI2 | Arina Puzriakova Publications for gene: GNAI2 were set to PMID: 39298586 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v7.15 | GNAI2 | Arina Puzriakova Tag Q3_24_promote_green tag was added to gene: GNAI2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v7.15 | GNAI2 | Arina Puzriakova reviewed gene: GNAI2: Rating: ; Mode of pathogenicity: None; Publications: 39298586; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v6.16 | GNAI2 |
Dmitrijs Rots gene: GNAI2 was added gene: GNAI2 was added to Primary immunodeficiency or monogenic inflammatory bowel disease. Sources: Literature Mode of inheritance for gene: GNAI2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: GNAI2 were set to PMID: 39298586 Phenotypes for gene: GNAI2 were set to Immunodefficiency with multisystemic presentation Penetrance for gene: GNAI2 were set to unknown Mode of pathogenicity for gene: GNAI2 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments Added comment: PMID: 39298586 showed 20 case with "multiorgan dysfunction, with a spectrum of birth defects involving brain, endocrine, skeletal, and other systems. Prominent immune dysregulation resulted from increased infection susceptibility—caused by impaired GPCR signaling for migration of T cells and neutrophils—and life-threatening autoimmunity with T cell hyperresponsiveness." and functional work. Sources: Literature |
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