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
-
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Radial dysplasia
- VACTERL-like phenotypes
- Familial breast cancer
- Non-syndromic familial congenital anorectal malformations
- Endometrial cancer pertinent cancer susceptibility
- Inherited polyposis and early onset colorectal cancer - germline testing
- Intellectual disability
- DDG2P
- Cerebral vascular malformations
- Gastrointestinal neuromuscular disorders
- Childhood onset dystonia, chorea or related movement disorder
- Mosaic skin disorders - deep sequencing
- Pigmentary skin disorders
- Genodermatoses with malignancies
- Breast cancer pertinent cancer susceptibility
- Malformations of cortical development
- Multiple endocrine tumours
- Thyroid cancer pertinent cancer susceptibility
- Gastrointestinal epithelial barrier disorders
- Hereditary neuropathy
- Adult onset dystonia, chorea or related movement disorder
- Inherited renal cancer
- Infantile enterocolitis & monogenic inflammatory bowel disease
- Childhood solid tumours cancer susceptibility
- Multiple monogenic benign skin tumours
- Inherited phaeochromocytoma and paraganglioma
- Vascular skin disorders
- White matter disorders and cerebral calcification - narrow panel
- Familial Tumours Syndromes of the central & peripheral Nervous system
- Adult onset leukodystrophy
- PTEN Hamartoma Tumour Syndrome
- Early onset or syndromic epilepsy
- Cytopenias and congenital anaemias
- COVID-19 research
- Inherited ovarian cancer (without breast cancer)
- Fetal anomalies
- Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders
- Hydrocephalus
- Neurological segmental overgrowth
- Hereditary neuropathy or pain disorder
- Colorectal cancer pertinent cancer susceptibility
- Adult solid tumours for rare disease
- Segmental overgrowth disorders - Deep sequencing
- Renal cancer pertinent cancer susceptibility
- GI tract tumours
- Sarcoma susceptibility
- Familial prostate cancer
- Early onset dystonia
- Adult solid tumours cancer susceptibility
- Adult onset neurodegenerative disorder
- Endocrine neoplasia
- Childhood solid tumours
- Inherited non-medullary thyroid cancer
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