This Panel is marked as Internal
Peutz-Jeghers syndrome
Gene: PTEN
PTEN (phosphatase and tensin homolog)
EnsemblGeneIds (GRCh38): ENSG00000171862
EnsemblGeneIds (GRCh37): ENSG00000171862
OMIM: 601728, Gene2Phenotype
PTEN is in 54 panels
EnsemblGeneIds (GRCh38): ENSG00000171862
EnsemblGeneIds (GRCh37): ENSG00000171862
OMIM: 601728, Gene2Phenotype
PTEN is in 54 panels
0 reviews
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review
- Expert Review Green
- Emory Genetics Laboratory
- Phenotypes
-
- Gastrointestinal and Colorectal Cancer
- High Risk Colorectal Cancer
- Bowel polyps found in majority of patients with PTEN-related disorders
- OMIM
- 601728
- Clinvar variants
- Variants in PTEN
- Penetrance
- Complete
- Panels with this gene
-
- Segmental overgrowth disorders - Deep sequencing
- Familial Tumours Syndromes of the central & peripheral Nervous system
- Pigmentary skin disorders
- Cytopenias and congenital anaemias
- COVID-19 research
- Cerebral vascular malformations
- Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders
- Mosaic skin disorders - Deep sequencing
- Hydrocephalus
- Colorectal cancer pertinent cancer susceptibility
- Adult solid tumours for rare disease
- Renal cancer pertinent cancer susceptibility
- GI tract tumours
- Sarcoma susceptibility
- Familial prostate cancer
- Early onset dystonia
- Inherited polyposis and early onset colorectal cancer - germline testing
- Hereditary neuropathy or pain disorder
- Childhood solid tumours
- Multiple monogenic benign skin tumours
- Inherited non-medullary thyroid cancer
- Inherited ovarian cancer (without breast cancer)
- Vascular skin disorders
- Radial dysplasia
- Leukodystrophy, adult onset
- VACTERL-like phenotypes
- Intellectual disability
- Familial breast cancer
- Early onset or syndromic epilepsy
- Non-syndromic familial congenital anorectal malformations
- Endometrial cancer pertinent cancer susceptibility
- Adult solid tumours cancer susceptibility
- Gastrointestinal neuromuscular disorders
- Neurological segmental overgrowth
- Fetal anomalies
- Genodermatoses with malignancies
- Breast cancer pertinent cancer susceptibility
- Dystonia, chorea or related movement disorder, childhood onset
- Dystonia, chorea or related movement disorder, adult onset
- Hereditary neuropathy
- Endocrine neoplasia
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Multiple endocrine tumours
- Neurodegenerative disorders, adult onset
- DDG2P
- Thyroid cancer pertinent cancer susceptibility
- Gastrointestinal epithelial barrier disorders
- Malformations of cortical development
- Inherited renal cancer
- PTEN Hamartoma Tumor Syndrome
- Infantile enterocolitis & monogenic inflammatory bowel disease
- Childhood solid tumours cancer susceptibility
- White matter disorders and cerebral calcification - childhood onset
- Inherited phaeochromocytoma and paraganglioma
History Filter Activity
3 Jun 2016, Gel status: 4
Added New Source
Ellen McDonagh (Genomics England Curator)PTEN was added to Peutz-Jeghers syndromepanel. Source: Expert Review
3 Jun 2016, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)PTEN was created by ellenmcdonagh
3 Jun 2016, Gel status: 4
Added New Source
Ellen McDonagh (Genomics England Curator)PTEN was added to Peutz-Jeghers syndromepanel. Sources: Emory Genetics Laboratory,Expert Review Green