Tumour predisposition - adult onset
Gene: PTENEnsemblGeneIds (GRCh38): ENSG00000171862
EnsemblGeneIds (GRCh37): ENSG00000171862
OMIM: 601728, Gene2Phenotype
PTEN is in 54 panels
0 reviews
Details
- Mode of Inheritance
- BOTH monoallelic and biallelic, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Familial Tumours Syndromes of the central & peripheral Nervous system (Version 1.8)
- Adult solid tumours for rare disease (Version 1.21)
- Phenotypes
-
- Cowden Syndrome
- PTEN hamartoma tumor syndrome
- Bannayan-Riley-Ruvalcaba syndrome, 153480
- Prostate cancer, somatic}, 176807
- {Glioma susceptibility 2}, 613028
- Cowden syndrome 1, 158350
- Thyroid carcinoma, follicular, somatic, 188470
- Cowden syndrome
- Macrocephaly/autism syndrome, 605309
- VATER association with macrocephaly and ventriculomegaly, 76950
- VATER association with macrocephaly and ventriculomegaly, 276950
- Malignant melanoma, somatic, 155600
- {Prostate cancer, somatic}, 176807
- Squamous cell carcinoma, head and neck, somatic, 275355
- Lhermitte-Duclos syndrome, 158350
- {Meningioma}, 607174
- Endometrial carcinoma, somatic, 608089
- Cowden Disease
- OMIM
- 601728
- Clinvar variants
- Variants in PTEN
- Penetrance
- None
- Panels with this gene
-
- Radial dysplasia
- VACTERL-like phenotypes
- Familial breast cancer
- Non-syndromic familial congenital anorectal malformations
- Intellectual disability
- Endometrial cancer pertinent cancer susceptibility
- Inherited polyposis and early onset colorectal cancer - germline testing
- DDG2P
- Cerebral vascular malformations
- Gastrointestinal neuromuscular disorders
- Fetal anomalies
- Mosaic skin disorders - deep sequencing
- Pigmentary skin disorders
- Genodermatoses with malignancies
- Breast cancer pertinent cancer susceptibility
- Adult onset neurodegenerative disorder
- Multiple endocrine tumours
- Childhood onset dystonia, chorea or related movement disorder
- 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
- Cytopenias and congenital anaemias
- COVID-19 research
- Malformations of cortical development
- Inherited ovarian cancer (without breast cancer)
- Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders
- Hydrocephalus
- Neurological segmental overgrowth
- Colorectal cancer pertinent cancer susceptibility
- Adult solid tumours for rare disease
- Segmental overgrowth disorders - Deep sequencing
- Renal cancer pertinent cancer susceptibility
- Early onset or syndromic epilepsy
- Hereditary neuropathy or pain disorder
- GI tract tumours
- Sarcoma susceptibility
- Familial prostate cancer
- Early onset dystonia
- Adult solid tumours cancer susceptibility
- Endocrine neoplasia
- Childhood solid tumours
- Inherited non-medullary thyroid cancer
- Primary immunodeficiency or monogenic inflammatory bowel disease
History Filter Activity
Panel promoted to version 1.0
Rebecca Foulger (Genomics England curator)Panel checked against two component panels (Adult solid tumours for rare disease v1.21 and Familial Tumours Syndromes of the central & peripheral Nervous system v1.8) and promoted to Version 1.0.
Set Phenotypes
Rebecca Foulger (Genomics England curator)Added phenotypes Cowden Syndrome; PTEN hamartoma tumor syndrome; Bannayan-Riley-Ruvalcaba syndrome, 153480; Prostate cancer, somatic}, 176807; {Glioma susceptibility 2}, 613028; Cowden syndrome 1, 158350; Thyroid carcinoma, follicular, somatic, 188470; Macrocephaly/autism syndrome, 605309; VATER association with macrocephaly and ventriculomegaly, 76950; VATER association with macrocephaly and ventriculomegaly, 276950; {Meningioma}, 607174; Malignant melanoma, somatic, 155600; {Prostate cancer, somatic}, 176807; Squamous cell carcinoma, head and neck, somatic, 275355; Lhermitte-Duclos syndrome, 158350; Endometrial carcinoma, somatic, 608089; Cowden Disease for gene: PTEN
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Rebecca Foulger (Genomics England curator)gene: PTEN was added gene: PTEN was added to Tumour predisposition - adult onset. Sources: Adult solid tumours for rare disease (Version 1.21),Familial Tumours Syndromes of the central & peripheral Nervous system (Version 1.8),Expert Review Green Mode of inheritance for gene: PTEN was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: PTEN were set to Cowden syndrome