Inherited polyposis and early onset colorectal cancer - germline testing
Gene: PTENEnsemblGeneIds (GRCh38): ENSG00000171862
EnsemblGeneIds (GRCh37): ENSG00000171862
OMIM: 601728, Gene2Phenotype
PTEN is in 54 panels
7 reviews
Arina Puzriakova (Genomics England Curator)
Comment on phenotypes: This gene is also associated with {Glioma susceptibility 2} (MIM# 613028); {Meningioma} (MIM# 607174); Macrocephaly/autism syndrome (MIM# 605309); Prostate cancer, somatic (MIM# 176807)Created: 8 Mar 2021, 10:49 a.m. | Last Modified: 8 Mar 2021, 10:49 a.m.
Panel Version: 1.18
Rachel Robinson (Leeds Genetics Laboratory)
Publications
Variants in this GENE are reported as part of current diagnostic practice
Lara Hawkes (Genomics England)
Clare Turnbull (Queen Mary University London)
Tumor Suppressor.Created: 5 Jul 2017, 12:19 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Cowden syndrome
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, imprinted status unknown
- Sources
-
- Expert Review Green
- NHS GMS
- Expert List
- Phenotypes
-
- Cowden syndrome 1, OMIM:158350
- Lhermitte-Duclos syndrome, OMIM:158350
- Cowden syndrome 1, MONDO:0008021
- OMIM
- 601728
- Clinvar variants
- Variants in PTEN
- Penetrance
- None
- 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
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: PTEN were changed from Bannayan-Riley-Ruvalcaba syndrome 153480 AD; Cowden syndrome 1 158350; PTEN hamartoma tumor syndrome to Cowden syndrome 1, OMIM:158350; Lhermitte-Duclos syndrome, OMIM:158350; Cowden syndrome 1, MONDO:0008021
Set Phenotypes
Ivone Leong (Genomics England Curator)Added phenotypes Bannayan-Riley-Ruvalcaba syndrome 153480 AD; Cowden syndrome 1 158350; PTEN hamartoma tumor syndrome for gene: PTEN
Set mode of inheritance
Ivone Leong (Genomics England Curator)Mode of inheritance for gene: PTEN was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Entity classified by Genomics England curator
Ivone Leong (Genomics England Curator)Gene: pten has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance
Ivone Leong (Genomics England Curator)gene: PTEN was added gene: PTEN was added to Inherited polyposis. Sources: Expert List,NHS GMS Mode of inheritance for gene: PTEN was set to