Sarcoma susceptibility
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
Rebecca Foulger (Genomics England curator)
This gene was added to the panel as suggested by Dr Fernanda Amary (Royal National Orthopaedic Hospital, NHS Trust). Gene Symbol submitted: PTEN; Phenotype submitted: Paraganglioma. Rated Amber as agreed at the Genomics Cancer Panel Workshop, 16th July 2019.Created: 23 Jul 2019, 3:16 p.m. | Last Modified: 23 Jul 2019, 3:16 p.m.
Panel Version: 0.2
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- Expert Review Amber
- Expert list
- Phenotypes
-
- Leiomyosarcoma, MONDO:0005058
- OMIM
- 601728
- Clinvar variants
- Variants in PTEN
- Penetrance
- None
- Publications
- Panels with this gene
-
- Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders
- Mosaic skin disorders - Deep sequencing
- Fetal anomalies
- 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
- Intellectual disability
- 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
- Leukodystrophy, adult onset
- Familial breast cancer
- Non-syndromic familial congenital anorectal malformations
- Endometrial cancer pertinent cancer susceptibility
- Adult solid tumours cancer susceptibility
- Neurodegenerative disorders, adult onset
- Gastrointestinal neuromuscular disorders
- Neurological segmental overgrowth
- Genodermatoses with malignancies
- Early onset or syndromic epilepsy
- 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
- Hereditary neuropathy or pain disorder
- DDG2P
- Pigmentary skin disorders
- 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
- Cytopenias and congenital anaemias
- COVID-19 research
- Cerebral vascular malformations
History Filter Activity
12 Mar 2021, Gel status: 2
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: PTEN were changed from Paraganglioma to Leiomyosarcoma, MONDO:0005058
12 Mar 2021, Gel status: 2
Set mode of inheritance
Arina Puzriakova (Genomics England Curator)Mode of inheritance for gene: PTEN was changed from to BIALLELIC, autosomal or pseudoautosomal
12 Mar 2021, Gel status: 2
Set publications
Arina Puzriakova (Genomics England Curator)Publications for gene: PTEN were set to
1 Aug 2019, Gel status: 2
Added New Source
Rebecca Foulger (Genomics England curator)Source NHS GMS was added to PTEN.
23 Jul 2019, Gel status: 2
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Rebecca Foulger (Genomics England curator)gene: PTEN was added gene: PTEN was added to Sarcoma susceptibility. Sources: Expert list,Expert Review Amber Mode of inheritance for gene: PTEN was set to Phenotypes for gene: PTEN were set to Paraganglioma