Early-onset Dementia
Gene: TET2
TET2 (tet methylcytosine dioxygenase 2)
EnsemblGeneIds (GRCh38): ENSG00000168769
EnsemblGeneIds (GRCh37): ENSG00000168769
OMIM: 612839, Gene2Phenotype
TET2 is in 5 panels
EnsemblGeneIds (GRCh38): ENSG00000168769
EnsemblGeneIds (GRCh37): ENSG00000168769
OMIM: 612839, Gene2Phenotype
TET2 is in 5 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Association study (PMID 32330418) found enrichment of non-coding and LoF TET2 variants in cohort of individuals with early onset dementia, unclear if this is monogenic or polygenic contribution. 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.
Sources: LiteratureCreated: 1 Sep 2020, 10:29 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Dementia
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Red
- Literature
- Phenotypes
-
- Dementia
- OMIM
- 612839
- Clinvar variants
- Variants in TET2
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
1 Sep 2020, Gel status: 1
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: tet2 has been classified as Red List (Low Evidence).
1 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 Early-onset Dementia. Sources: Literature Mode of inheritance for gene: TET2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: TET2 were set to 32330418; 31943063 Phenotypes for gene: TET2 were set to Dementia Review for gene: TET2 was set to RED