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Primary immunodeficiency

Gene: TET2

Amber List (moderate evidence)

TET2 (tet methylcytosine dioxygenase 2)
EnsemblGeneIds (GRCh38): ENSG00000168769
EnsemblGeneIds (GRCh37): ENSG00000168769
OMIM: 612839, Gene2Phenotype
TET2 is in 4 panels

3 reviews

Arina Puzriakova (Genomics England Curator)

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.
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

Zornitza Stark (Australian Genomics)

Green List (high evidence)

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

Boaz Palterer (University of Florence)

I don't know

Sources: Literature
Created: 3 Sep 2020, 3:08 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Primary Immunodeficiency; Lymphoma; Hepatosplenomegaly; Autoimmunity; Developmental delay

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Primary Immunodeficiency
  • Lymphoma
  • Hepatosplenomegaly
  • Autoimmunity
  • Developmental delay
OMIM
612839
Clinvar variants
Variants in TET2
Penetrance
unknown
Publications
Panels with this gene

History Filter Activity

17 Sep 2020, Gel status: 2

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: tet2 has been classified as Amber List (Moderate Evidence).

3 Sep 2020, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set penetrance

Boaz Palterer (University of Florence)

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