Primary immunodeficiency or monogenic inflammatory bowel disease
Gene: TET2Comment on list classification: Additional cases required before inclusion of this gene on a diagnostic panel. Rating Amber in anticipation of further publications/clinical evidence.Created: 17 Sep 2020, 4:17 p.m. | Last Modified: 17 Sep 2020, 4:17 p.m.
Panel Version: 2.188
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.Created: 17 Sep 2020, 4:14 p.m. | Last Modified: 17 Sep 2020, 4:14 p.m.
Panel Version: 2.187
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Publications
3 children with an immune dysregulation syndrome of susceptibility to infection, lymphadenopathy, hepatosplenomegaly, developmental delay, autoimmunity, and lymphoma of B-cell (n = 2) or T-cell (n = 1) origin, and bi-allelic variants in TET2.
Note mono-allelic variants in this gene have been associated with dementia and with germline susceptibility to myeloid malignancies, but evidence for these proposed associations is limited.Created: 8 Sep 2020, 10:24 p.m. | Last Modified: 8 Sep 2020, 10:24 p.m.
Panel Version: 2.184
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Immune dysregulation; Lymphoma
Publications
Variants in this GENE are reported as part of current diagnostic practice
Sources: LiteratureCreated: 3 Sep 2020, 3:08 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Primary Immunodeficiency; Lymphoma; Hepatosplenomegaly; Autoimmunity; Developmental delay
Publications
Gene: tet2 has been classified as Amber List (Moderate Evidence).
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