Disorders of immune dysregulation
Gene: TET2
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.
Sources: LiteratureCreated: 4 Sep 2020, 11:12 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Immune dysregulation; Lymphoma; Immunodeficiency-75 (IMD75), MIM#619126
Publications
PMID: 31943063 - Li et al 2020 - functional studies in mice show that Tet2 depletion in the hippocampus exacerbates Alzheimer disease pathology and cognitive dysfunction at early disease stagesCreated: 1 Sep 2020, 3:32 p.m. | Last Modified: 1 Sep 2020, 3:32 p.m.
Panel Version: 0.4091
Phenotypes for gene: TET2 were changed from Immune dysregulation; Lymphoma to Immune dysregulation; Lymphoma; Immunodeficiency-75 (IMD75), MIM#619126
Gene: tet2 has been classified as Green List (High Evidence).
Gene: tet2 has been classified as Green List (High Evidence).
gene: TET2 was added gene: TET2 was added to Disorders of immune dysregulation. 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 Immune dysregulation; Lymphoma Review for gene: TET2 was set to GREEN