GI tract tumours
Gene: PTENEnsemblGeneIds (GRCh38): ENSG00000171862
EnsemblGeneIds (GRCh37): ENSG00000171862
OMIM: 601728, Gene2Phenotype
PTEN is in 54 panels
6 reviews
Ivone Leong (Genomics England Curator)
As discussed in the GMS Inherited Cancer Specialist Test Group webex call 31st Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green.Created: 31 Jul 2019, 12:27 p.m. | Last Modified: 31 Jul 2019, 12:27 p.m.
Panel Version: 1.13
Rachel Robinson (Leeds Genetics Laboratory)
Publications
Variants in this GENE are reported as part of current diagnostic practice
Lara Hawkes (Genomics England)
Sarah Leigh (Genomics England Curator)
Comment on phenotypes: Gastrointestinal and Colorectal Cancer; High Risk Colorectal Cancer; Bowel polyps found in majority of patients with PTEN-related disordersCreated: 12 May 2017, 1:14 p.m.
Ellen Thomas (Genomics England Curator)
Comment on list classification: DW CT - relevant in colon cancer.Created: 10 May 2016, 8:21 p.m.
Ian Frayling (Cardiff University)
Good evidence of a modest predisposition to colorectal cancerCreated: 8 Dec 2015, 2:06 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Colorectal cancer; hamartomatous polyp; ganglioneuroma
Publications
- Eng, C. PTEN Hamartoma Tumor Syndrome (PHTS). GeneReviews® [Internet]. http://www.ncbi.nlm.nih.gov/books/NBK1488/
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- NHS GMS
- Expert List
- Expert Review
- Expert Review Green
- Emory Genetics Laboratory
- Phenotypes
-
- PTEN hamartoma tumor syndrome
- Bannayan-Riley-Ruvalcaba syndrome 153480 AD
- Cowden syndrome 1 158350
- OMIM
- 601728
- Clinvar variants
- Variants in PTEN
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- 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
- Endocrine neoplasia
- Inherited ovarian cancer (without breast cancer)
- Inherited non-medullary thyroid cancer
- Early onset or syndromic epilepsy
- Hereditary neuropathy or pain disorder
- White matter disorders and cerebral calcification - narrow panel
- Neurological segmental overgrowth
- Radial dysplasia
- Intellectual disability
- VACTERL-like phenotypes
- Familial breast cancer
- 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
- Familial Tumours Syndromes of the central & peripheral Nervous system
- DDG2P
- PTEN Hamartoma Tumour Syndrome
- Inherited renal cancer
History Filter Activity
Added New Source, Added New Source, Status Update
Ivone Leong (Genomics England Curator)Source Expert List was added to PTEN. Source NHS GMS was added to PTEN. Rating Changed from Green List (high evidence) to Green List (high evidence)
panel promoted to version 1
Sarah Leigh (Genomics England Curator)This panel has been formed as a result of merging Familial colon cancer (Version 1.5), Multiple bowel polyps (Version 1.9), Peutz-Jeghers syndrome (Version 0.20) panels and copying the reviews from each panel into this united GI Tract panel
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for PTEN were set to PTEN hamartoma tumor syndrome; Bannayan-Riley-Ruvalcaba syndrome 153480 AD; Cowden syndrome 1 158350
Set publications
Sarah Leigh (Genomics England Curator)Publications for PTEN were set to 20301661
Added New Source
Ellen McDonagh (Genomics England Curator)PTEN was added to GI tractpanel. Source: Expert Review
Added New Source
Ellen McDonagh (Genomics England Curator)PTEN was added to GI tractpanel. Sources: Emory Genetics Laboratory,Expert Review Green
Created
Ellen McDonagh (Genomics England Curator)PTEN was created by ellenmcdonagh