Incidentalome

Gene: PTEN

Green List (high evidence)

PTEN (phosphatase and tensin homolog)
EnsemblGeneIds (GRCh38): ENSG00000171862
EnsemblGeneIds (GRCh37): ENSG00000171862
OMIM: 601728, Gene2Phenotype
PTEN is in 31 panels

2 reviews

Arina Puzriakova (Genomics England)

- PMID: 32588888 (2020) - Sequencing of the T-cell receptor variable-region β-chain using peripheral blood from patients with PTEN hamartoma tumour syndrome (PHTS), revealed that patients with PTEN variants had a skewed T- and B-cell gene repertoire, characterised by increased prevalence of high-frequency clones, compared to PTEN wild-type population.

Pten knock-in murine models similarly exhibited skewed immune repertoire compositions. Mutants also displayed B-cell hyperactivation and T-cell hyper-reactivity upon Toll-like-receptor stimulation. Decreases in nuclear but not cytoplasmic Pten levels were associated with reduced expression of the autoimmune regulator (Aire), indicating that nuclear PTEN likely regulates Aire expression via its emerging role in splicing regulation.

Authors speculate that such disruptions in central immune tolerance processes due to PTEN variants may impact individual stress responses and therefore predisposition to chronic inflammation, autoimmunity and cancer.
Created: 22 Sep 2020, 2:34 p.m. | Last Modified: 22 Sep 2020, 2:34 p.m.
Panel Version: 0.35

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Skewed immune repertoire composition

Publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Cowden syndrome 1, MIM# 158350

History Filter Activity

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: PTEN was added gene: PTEN was added to Incidentalome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: PTEN was set to Unknown