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| 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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