This Panel is marked as Retired
Multiple Tumours
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
1 review
Ellen McDonagh (Genomics England Curator)
Information from TruSight panel: Pathogenic Mutations are Inactivating.Created: 5 Feb 2016, 11:46 a.m.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- TruSight Cancer Panel (Illumina)
- Phenotypes
-
- Cowden Syndrome
- PTEN Hamartoma Tumor Syndrome
- Breast cancer
- Thyroid cancer, adenoma
- Endometrial cancer, leiomyoma
- Colorectal cancer, adenoma, hamartoma
- Renal cell cancer
- Familial breast cancer
- Genodermatoses with malignancies
- Multiple bowel polyps
- Paediatric congenital malformation-dysmorphism-tumour syndromes
- OMIM
- 601728
- Clinvar variants
- Variants in PTEN
- Penetrance
- Complete
- Panels with this gene
-
- 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
- Neurodegenerative disorders, adult onset
- Familial prostate cancer
- Early onset dystonia
- Fetal anomalies
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Dystonia, chorea or related movement disorder, childhood onset
- Childhood solid tumours
- Multiple monogenic benign skin tumours
- Inherited non-medullary thyroid cancer
- Inherited ovarian cancer (without breast cancer)
- Vascular skin disorders
- Radial dysplasia
- VACTERL-like phenotypes
- Familial breast cancer
- Non-syndromic familial congenital anorectal malformations
- Endometrial cancer pertinent cancer susceptibility
- Adult solid tumours cancer susceptibility
- Early onset or syndromic epilepsy
- Intellectual disability
- Gastrointestinal neuromuscular disorders
- Neurological segmental overgrowth
- Pigmentary skin disorders
- Genodermatoses with malignancies
- Breast cancer pertinent cancer susceptibility
- Hereditary neuropathy or pain disorder
- Inherited polyposis and early onset colorectal cancer - germline testing
- Hereditary neuropathy
- Endocrine neoplasia
- Multiple endocrine tumours
- 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
- Segmental overgrowth disorders - Deep sequencing
- Familial Tumours Syndromes of the central & peripheral Nervous system
- Dystonia, chorea or related movement disorder, adult onset
- Cytopenias and congenital anaemias
- Leukodystrophy, adult onset
- COVID-19 research
- Cerebral vascular malformations
History Filter Activity
9 Mar 2016, Gel status: 4
Set Mode of Inheritance, Added New Source
Ellen McDonagh (Genomics England Curator)PTEN was added to Multiple Tumourspanel. Source: Expert Review Green Model of inheritance for gene PTEN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
5 Feb 2016, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)PTEN was created by ellenmcdonagh
5 Feb 2016, Gel status: 0
Added New Source
Ellen McDonagh (Genomics England Curator)PTEN was added to Multiple Tumourspanel. Sources: TruSight Cancer Panel (Illumina)