Activity
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20 actions
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| Primary immunodeficiency or monogenic inflammatory bowel disease v7.26 | TET2 |
Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: TET2. Tag Q3_24_NHS_review was removed from gene: TET2. |
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| Primary immunodeficiency or monogenic inflammatory bowel disease v7.26 | TET2 | Achchuthan Shanmugasundram reviewed gene: TET2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v7.25 | TET2 |
Achchuthan Shanmugasundram Source NHS GMS was added to TET2. Source Expert Review Green was added to TET2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Primary immunodeficiency or monogenic inflammatory bowel disease v7.4 | TET2 |
Arina Puzriakova Tag Q3_24_promote_green tag was added to gene: TET2. Tag Q3_24_NHS_review tag was added to gene: TET2. |
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| Primary immunodeficiency or monogenic inflammatory bowel disease v7.4 | TET2 | Arina Puzriakova Classified gene: TET2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v7.4 | TET2 | Arina Puzriakova Added comment: Comment on list classification: Total of at least 4 unrelated cases reported to date with an immune dysregulation syndrome and lymphoproliferation (PMIDs: 32518946; 36066697). Sufficient to promote this gene to green with biallelic MOI (3 cases) but not monoallelic (1 case) - possible that in trans variant was missed or the heterozygous variant in LRBA additionally detected in this individual acted as a phenotype-modifier. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v7.4 | TET2 | Arina Puzriakova Gene: tet2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v7.3 | TET2 | Arina Puzriakova Publications for gene: TET2 were set to 32518946 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v7.2 | TET2 | Arina Puzriakova Added comment: Comment on phenotypes: This gene is now associated with a relevant phenotype in OMIM (Immunodeficiency 75, OMIM:619126) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v7.2 | TET2 | Arina Puzriakova Phenotypes for gene: TET2 were changed from Primary Immunodeficiency; Lymphoma; Hepatosplenomegaly; Autoimmunity; Developmental delay to Immunodeficiency 75, OMIM:619126 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v6.16 | TET2 |
Sarah Dixon changed review comment from: PMID: 36066697 (2023) presents two additional patients with ALPS-like immune phenotypes. Inheritance pattern is not consistent between cases. Uncertain significance. P1: lymphoproliferation, cytopenias, and immune dysregulation. Biallelic truncating variants in TET2 identified, apparently germline, although notably neither variant was maternally inherited (father not available for testing). P2: autoimmunity and lymphoproliferation Apparently germline LOF variant in TET2 identified (monoallelic).; to: PMID: 36066697 (2023) presents two additional patients with ALPS-like immune phenotypes. Inheritance pattern is not consistent between cases. Uncertain significance. P1: lymphoproliferation, cytopenias, and immune dysregulation. Biallelic truncating variants in TET2 identified, apparently germline, although notably neither variant was maternally inherited (father not available for testing). P2: autoimmunity and lymphoproliferation Apparently germline LOF variant in TET2 identified (monoallelic). PMID: 21803851 Tet2 knockout mouse model develops myeloid malignancy |
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| Primary immunodeficiency or monogenic inflammatory bowel disease v6.10 | TET2 | Sarah Dixon reviewed gene: TET2: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 36066697; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v2.188 | TET2 |
Arina Puzriakova changed review comment from: Comment on list classification: Additional cases required before inclusion of this gene on a diagnostic panel. Rating Amber in anticipation of further publications/clinical evidence.; to: Comment on list classification: Additional cases required before inclusion of this gene on a diagnostic panel. Rating Amber in anticipation of further publications/clinical evidence. |
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| Primary immunodeficiency or monogenic inflammatory bowel disease v2.188 | TET2 | Arina Puzriakova Classified gene: TET2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v2.188 | TET2 |
Arina Puzriakova Added comment: Comment on list classification: Additional cases required before inclusion of this gene on a diagnostic panel. Rating Amber in anticipation of further publications/clinical evidence. |
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| Primary immunodeficiency or monogenic inflammatory bowel disease v2.188 | TET2 | Arina Puzriakova Gene: tet2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v2.187 | TET2 |
Arina Puzriakova changed review comment from: PMID: 32518946 (2020) - Three cases from two unrelated consanguineous families with immunodeficiency and lymphoproliferative disease, associated with homozygous variants (c.4145A>G, p.H1382R and c.4894C>T, p.Q1632*) in the TET2 gene. Molecular studies showed that the variants result in altered DNA methylation and B-cell maturation, as well as skewed T-cell differentiation and hematopoiesis.; to: PMID: 32518946 (2020) - Three cases from two unrelated consanguineous families with immunodeficiency and lymphoproliferative disease, associated with homozygous variants (c.4145A>G, p.H1382R and c.4894C>T, p.Q1632*) in the TET2 gene. Molecular studies showed that the variants result in altered DNA methylation and B-cell maturation, as well as skewed T-cell differentiation and hematopoiesis. |
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| Primary immunodeficiency or monogenic inflammatory bowel disease v2.187 | TET2 | Arina Puzriakova reviewed gene: TET2: Rating: ; Mode of pathogenicity: None; Publications: 32518946; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v2.184 | TET2 | Zornitza Stark reviewed gene: TET2: Rating: GREEN; Mode of pathogenicity: None; Publications: 32518946; Phenotypes: Immune dysregulation, Lymphoma; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v2.184 | TET2 |
Boaz Palterer gene: TET2 was added gene: TET2 was added to Primary immunodeficiency. Sources: Literature Mode of inheritance for gene: TET2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TET2 were set to 32518946 Phenotypes for gene: TET2 were set to Primary Immunodeficiency; Lymphoma; Hepatosplenomegaly; Autoimmunity; Developmental delay Penetrance for gene: TET2 were set to unknown Review for gene: TET2 was set to AMBER Added comment: Sources: Literature |
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