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  2. Pulmonary Arterial Hypertension
  3. TET2
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Pulmonary Arterial Hypertension

Gene: TET2

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

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

MODERATE by ClinGen.

TET2 was first reported in relation to autosomal dominant pulmonary arterial hypertension (PAH) in 2020 (Potus et al., PMID: 32192357). Out of a cohort of 2572 cases from the PAH biobank, 6 rare predicted deleterious likely germline variants including missense, nonsense, and frameshift variants were identified in 6 unrelated individuals. The relationship between TET2 and PAH is also supported by experimental evidence including tissue expression in controls and patients, biochemical function as a negative regulator of a proinflammatory response, and knock out TET2 mice exhibiting a PH phenotype.
Sources: Expert list
Created: 8 Aug 2023, 5:31 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Pulmonary arterial hypertension MONDO:0015924, TET2-related

Publications

Created: 8 Aug 2023, 5:31 a.m.

Panel version: 1.20

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Expert list
Phenotypes
  • Pulmonary arterial hypertension MONDO:0015924, TET2-related
OMIM
612839
Clinvar variants
Variants in TET2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

8 Aug 2023, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

8 Aug 2023, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

8 Aug 2023, 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 Pulmonary Arterial Hypertension. Sources: Expert list Mode of inheritance for gene: TET2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: TET2 were set to 32192357 Phenotypes for gene: TET2 were set to Pulmonary arterial hypertension MONDO:0015924, TET2-related