Genodermatoses with malignancies
Gene: PTENEnsemblGeneIds (GRCh38): ENSG00000171862
EnsemblGeneIds (GRCh37): ENSG00000171862
OMIM: 601728, Gene2Phenotype
PTEN is in 54 panels
1 review
Ajith Kumar (Great Ormond Street Hospital)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
macrocephaly; learning difficulties; lipomas; vascular malformations; genital freckling; skin tags; fibrocystic breast disease, goitre; breast cancer; non-medullary thyroid cancer; hamartomas; bowel polyps; bowel cancer; uterine cancer
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Eligibility statement prior genetic testing
- Expert list
- UKGTN
- Emory Genetics Laboratory
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- Cowden syndrome 1, 158350
- Lhermitte-Duclos syndrome, 158350
- Bannayan-Riley-Ruvalcaba syndrome, 153480
- {Meningioma}, 607174
- {Glioma susceptibility 2}, 613028
- Macrocephaly/autism syndrome, 605309
- PTEN hamartoma tumor syndrome
- VATER association with macrocephaly and ventriculomegaly, 276950
- {Prostate cancer, somatic}, 176807
- Thyroid carcinoma, follicular, somatic, 188470
- Malignant melanoma, somatic, 155600
- Endometrial carcinoma, somatic, 608089
- Squamous cell carcinoma, head and neck, somatic, 275355
- Cowden Syndrome
- Cowden Disease
- OMIM
- 601728
- Clinvar variants
- Variants in PTEN
- Penetrance
- Complete
- Panels with this gene
-
- Neurological segmental overgrowth
- Radial dysplasia
- VACTERL-like phenotypes
- Familial breast cancer
- White matter disorders and cerebral calcification - narrow panel
- Non-syndromic familial congenital anorectal malformations
- Endometrial cancer pertinent cancer susceptibility
- Early onset or syndromic epilepsy
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Gastrointestinal neuromuscular disorders
- Genodermatoses with malignancies
- Cerebral vascular malformations
- Breast cancer pertinent cancer susceptibility
- Adult onset neurodegenerative disorder
- Segmental overgrowth disorders - Deep sequencing
- Intellectual disability
- Pigmentary skin disorders
- Multiple endocrine tumours
- Mosaic skin disorders - deep sequencing
- Childhood onset dystonia, chorea or related movement disorder
- DDG2P
- Inherited polyposis and early onset colorectal cancer - germline testing
- Thyroid cancer pertinent cancer susceptibility
- Gastrointestinal epithelial barrier disorders
- Hereditary neuropathy
- Infantile enterocolitis & monogenic inflammatory bowel disease
- Fetal anomalies
- Childhood solid tumours cancer susceptibility
- Inherited phaeochromocytoma and paraganglioma
- Cytopenias and congenital anaemias
- Vascular skin disorders
- Multiple monogenic benign skin tumours
- Familial Tumours Syndromes of the central & peripheral Nervous system
- PTEN Hamartoma Tumour Syndrome
- Inherited renal cancer
- COVID-19 research
- Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders
- Adult onset leukodystrophy
- Malformations of cortical development
- Hydrocephalus
- Childhood solid tumours
- 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
- Adult solid tumours cancer susceptibility
- Adult onset dystonia, chorea or related movement disorder
- Endocrine neoplasia
- Inherited ovarian cancer (without breast cancer)
- Inherited non-medullary thyroid cancer
- Hereditary neuropathy or pain disorder
History Filter Activity
Gene classified by Genomics England curator
Ellen Thomas (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Mode of Inheritance
Ellen Thomas (Genomics England Curator)Mode of inheritance for PTEN was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene PTEN was set to Unknown
Added New Source
Ellen McDonagh (Genomics England Curator)PTEN was added to Genodermatoses with malignanciespanel. Source: Eligibility statement prior genetic testing
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene PTEN was set to Unknown
Added New Source
Ellen McDonagh (Genomics England Curator)PTEN was added to Genodermatoses with malignanciespanel. Source: Expert list
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene PTEN was set to Unknown
Added New Source
Ellen McDonagh (Genomics England Curator)PTEN was added to Genodermatoses with malignanciespanel. Source: UKGTN
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene PTEN was set to Unknown
Added New Source
Ellen McDonagh (Genomics England Curator)PTEN was added to Genodermatoses with malignanciespanel. Source: Emory Genetics Laboratory
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene PTEN was set to Unknown
Added New Source
Ellen McDonagh (Genomics England Curator)PTEN was added to Genodermatoses with malignanciespanel. Source: Radboud University Medical Center, Nijmegen
Added New Source
Ellen McDonagh (Genomics England Curator)PTEN was added to Genodermatoses with malignanciespanel. Sources: Eligibility statement prior genetic testing
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene PTEN was changed to Unknown
Added New Source
Ellen McDonagh (Genomics England Curator)PTEN was added to Genodermatoses with malignanciespanel. Sources: Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,UKGTN,Expert list
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene PTEN was changed to Unknown
Added New Source
Ellen McDonagh (Genomics England Curator)PTEN was added to Genodermatoses with malignanciespanel. Sources: Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,UKGTN,Expert list
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene PTEN was changed to Unknown
Added New Source
Ellen McDonagh (Genomics England Curator)PTEN was added to Genodermatoses with malignanciespanel. Sources: Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,UKGTN,Expert list
Added New Source
Ellen McDonagh (Genomics England Curator)PTEN was added to Genodermatoses with malignanciespanel. Sources: Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,UKGTN,Expert list