Thyroid cancer pertinent cancer 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
0 reviews
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Green
- Expert list
- Phenotypes
-
- Cowden Syndrome
- PTEN hamartoma tumor syndrome
- Breast cancer
- Thyroid cancer
- Endometrial cancer
- OMIM
- 601728
- Clinvar variants
- Variants in PTEN
- Penetrance
- None
- Publications
- Panels with this gene
-
- Childhood solid tumours
- Inherited non-medullary thyroid cancer
- Early onset or syndromic epilepsy
- Radial dysplasia
- Multiple monogenic benign skin tumours
- Inherited polyposis and early onset colorectal cancer - germline testing
- VACTERL-like phenotypes
- Familial breast cancer
- Non-syndromic familial congenital anorectal malformations
- Endometrial cancer pertinent cancer susceptibility
- Adult solid tumours cancer susceptibility
- Malformations of cortical development
- Cerebral vascular malformations
- Mosaic skin disorders - deep sequencing
- Gastrointestinal neuromuscular disorders
- White matter disorders and cerebral calcification - narrow panel
- Adult onset neurodegenerative disorder
- Pigmentary skin disorders
- Segmental overgrowth disorders - Deep sequencing
- Genodermatoses with malignancies
- Adult onset leukodystrophy
- Breast cancer pertinent cancer susceptibility
- PTEN Hamartoma Tumour Syndrome
- Hereditary neuropathy
- Multiple endocrine tumours
- Childhood onset dystonia, chorea or related movement disorder
- Adult onset dystonia, chorea or related movement disorder
- Intellectual disability
- Thyroid cancer pertinent cancer susceptibility
- Inherited renal cancer
- Gastrointestinal epithelial barrier disorders
- Vascular skin disorders
- Infantile enterocolitis & monogenic inflammatory bowel disease
- Childhood solid tumours cancer susceptibility
- Inherited phaeochromocytoma and paraganglioma
- Inherited ovarian cancer (without breast cancer)
- Hydrocephalus
- Hereditary neuropathy or pain disorder
- Fetal anomalies
- Familial Tumours Syndromes of the central & peripheral Nervous system
- Endocrine neoplasia
- Cytopenias and congenital anaemias
- COVID-19 research
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders
- Neurological segmental overgrowth
- 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
- DDG2P
History Filter Activity
7 Sep 2018, Gel status: 3
Panel promoted to version 1.0
Louise Daugherty (Genomics England Curator)This Cancer Germline 100K panel has been subjected to extensive internal and external review and has been versioned to V1 to enable germline reporting in the Cancer Pipeline.
21 Jun 2018, Gel status: 3
Entity classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)Gene: pten has been classified as Green List (High Evidence).
21 Jun 2018, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)PTEN was added to Thyroid cancer pertinent cancer susceptibility panel. Sources: Expert list
21 Jun 2018, Gel status: 1
Created
Ellen McDonagh (Genomics England Curator)PTEN was created by Ellen McDonagh