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
-
- Segmental overgrowth disorders - Deep sequencing
- Familial Tumours Syndromes of the central & peripheral Nervous system
- Hereditary neuropathy or pain disorder
- Cytopenias and congenital anaemias
- COVID-19 research
- Cerebral vascular malformations
- Neurodegenerative disorders, adult onset
- Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders
- Mosaic skin disorders - Deep sequencing
- Colorectal cancer pertinent cancer susceptibility
- Adult solid tumours for rare disease
- Renal cancer pertinent cancer susceptibility
- GI tract tumours
- Sarcoma susceptibility
- Leukodystrophy, adult onset
- Intellectual disability
- Familial prostate cancer
- Early onset dystonia
- Inherited polyposis and early onset colorectal cancer - germline testing
- Hydrocephalus
- Childhood solid tumours
- Multiple monogenic benign skin tumours
- Inherited non-medullary thyroid cancer
- Inherited ovarian cancer (without breast cancer)
- Vascular skin disorders
- White matter disorders and cerebral calcification - childhood onset
- Radial dysplasia
- VACTERL-like phenotypes
- Familial breast cancer
- Non-syndromic familial congenital anorectal malformations
- Endometrial cancer pertinent cancer susceptibility
- Adult solid tumours cancer susceptibility
- Dystonia, chorea or related movement disorder, adult onset
- Gastrointestinal neuromuscular disorders
- Malformations of cortical development
- Neurological segmental overgrowth
- DDG2P
- Genodermatoses with malignancies
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Breast cancer pertinent cancer susceptibility
- Dystonia, chorea or related movement disorder, childhood onset
- Hereditary neuropathy
- Endocrine neoplasia
- Multiple endocrine tumours
- Pigmentary skin disorders
- Thyroid cancer pertinent cancer susceptibility
- Gastrointestinal epithelial barrier disorders
- Inherited renal cancer
- PTEN Hamartoma Tumor Syndrome
- Infantile enterocolitis & monogenic inflammatory bowel disease
- Early onset or syndromic epilepsy
- Childhood solid tumours cancer susceptibility
- Fetal anomalies
- Inherited phaeochromocytoma and paraganglioma
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