Inherited non-medullary thyroid cancer
Gene: PTENEnsemblGeneIds (GRCh38): ENSG00000171862
EnsemblGeneIds (GRCh37): ENSG00000171862
OMIM: 601728, Gene2Phenotype
PTEN is in 54 panels
3 reviews
Sarah Leigh (Genomics England Curator)
Comment when marking as ready: Associated with phenotype in OMIM and as a confirmed G2P. At least 17 variants reported.Created: 10 Jul 2017, 10:20 a.m.
Emma Woodward (Manchester Centre for Genomic Medicine)
I would include although, as with the others above, the other manifestations of PTEN disruption are likely to be phenotypically apparent. Also, Cowden associated NMTC tends to be FTC.Created: 13 Jun 2017, 6:17 a.m.
Fiona Lalloo (Manchester Centre for Genomic Medicine)
Clear association with benign and malignant thyroid diseaseCreated: 9 Jun 2017, 8:04 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Cowdens syndrome, Lhermitte Duclos, Banyan-Riley-Ruvalcaba syndrome
Publications
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- UKGTN
- Radboud University Medical Center, Nijmegen
- Illumina TruGenome Clinical Sequencing Services
- Emory Genetics Laboratory
- Phenotypes
-
- Cowden syndrome 1 158350
- Lhermitte-Duclos syndrome 158350
- OMIM
- 601728
- Clinvar variants
- Variants in PTEN
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Endocrine neoplasia
- Inherited ovarian cancer (without breast cancer)
- Inherited non-medullary thyroid cancer
- Hereditary neuropathy or pain disorder
- Neurological segmental overgrowth
- Radial dysplasia
- VACTERL-like phenotypes
- Familial breast cancer
- White matter disorders and cerebral calcification - narrow panel
- Non-syndromic familial congenital anorectal malformations
- Endometrial cancer pertinent cancer susceptibility
- Hereditary neuropathy
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Gastrointestinal neuromuscular disorders
- Pigmentary skin disorders
- COVID-19 research
- Genodermatoses with malignancies
- Cerebral vascular malformations
- Adult onset neurodegenerative disorder
- Malformations of cortical development
- Hydrocephalus
- Segmental overgrowth disorders - Deep sequencing
- Multiple endocrine tumours
- Mosaic skin disorders - deep sequencing
- Inherited polyposis and early onset colorectal cancer - germline testing
- Fetal anomalies
- Thyroid cancer pertinent cancer susceptibility
- Gastrointestinal epithelial barrier disorders
- Infantile enterocolitis & monogenic inflammatory bowel disease
- Childhood solid tumours cancer susceptibility
- Childhood onset dystonia, chorea or related movement disorder
- Inherited phaeochromocytoma and paraganglioma
- Cytopenias and congenital anaemias
- Adult onset dystonia, chorea or related movement disorder
- Vascular skin disorders
- Multiple monogenic benign skin tumours
- Early onset or syndromic epilepsy
- Familial Tumours Syndromes of the central & peripheral Nervous system
- DDG2P
- PTEN Hamartoma Tumour Syndrome
- Inherited renal cancer
- Intellectual disability
- Adult onset leukodystrophy
- Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders
- Colorectal cancer pertinent cancer susceptibility
- Adult solid tumours for rare disease
- Renal cancer pertinent cancer susceptibility
- GI tract tumours
- Breast cancer pertinent cancer susceptibility
- Sarcoma susceptibility
- Familial prostate cancer
- Early onset dystonia
- Childhood solid tumours
- Adult solid tumours cancer susceptibility
History Filter Activity
panel promoted to version 1
Sarah Leigh (Genomics England Curator)All genes have been reviewed and the reviews evaluated. 07.08.2017
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set publications
Sarah Leigh (Genomics England Curator)Publications for PTEN were set to 9790504; https://doi.org/10.1016/j.mpdhp.2016.02.005;10594284; 22252256
Set Mode of Inheritance
Sarah Leigh (Genomics England Curator)Mode of inheritance for PTEN was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added New Source
Sarah Leigh (Genomics England Curator)PTEN was added to Inherited non-medullary thyroid cancerpanel. Source: UKGTN
Added New Source
Sarah Leigh (Genomics England Curator)PTEN was added to Inherited non-medullary thyroid cancerpanel. Source: Radboud University Medical Center, Nijmegen
Added New Source
Sarah Leigh (Genomics England Curator)PTEN was added to Inherited non-medullary thyroid cancerpanel. Source: Illumina TruGenome Clinical Sequencing Services
Added New Source
Sarah Leigh (Genomics England Curator)PTEN was added to Inherited non-medullary thyroid cancerpanel. Sources: Emory Genetics Laboratory
Created
Sarah Leigh (Genomics England Curator)PTEN was created by sleigh