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  3. TET2
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Disorders of immune dysregulation

Gene: TET2

Green List (high evidence)
TET2 (tet methylcytosine dioxygenase 2)
EnsemblGeneIds (GRCh38): ENSG00000168769
EnsemblGeneIds (GRCh37): ENSG00000168769
OMIM: 612839, Gene2Phenotype
TET2 is in 5 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; 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.
Sources: Literature
Created: 4 Sep 2020, 11:12 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Immune dysregulation; Lymphoma; Immunodeficiency-75 (IMD75), MIM#619126

Publications

Created: 4 Sep 2020, 11:12 a.m.

Panel version: 0.72

Eleanor Williams (Genomics England)

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 stages
Created: 1 Sep 2020, 3:32 p.m. | Last Modified: 1 Sep 2020, 3:32 p.m.
Panel Version: 0.4091
Created: 1 Sep 2020, 3:32 p.m.
Last Modified: 1 Sep 2020, 3:32 p.m.
Panel version: Imported from Mendeliome panel version 0.4091

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Immune dysregulation
  • Lymphoma
  • Immunodeficiency-75 (IMD75), MIM#619126
OMIM
612839
Clinvar variants
Variants in TET2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

23 Dec 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: TET2 were changed from Immune dysregulation; Lymphoma to Immune dysregulation; Lymphoma; Immunodeficiency-75 (IMD75), MIM#619126

4 Sep 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: tet2 has been classified as Green List (High Evidence).

4 Sep 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: tet2 has been classified as Green List (High Evidence).

4 Sep 2020, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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