Childhood solid tumours
Gene: PTENEnsemblGeneIds (GRCh38): ENSG00000171862
EnsemblGeneIds (GRCh37): ENSG00000171862
OMIM: 601728, Gene2Phenotype
PTEN is in 54 panels
3 reviews
Ivone Leong (Genomics England Curator)
As discussed at the Genomics Cancer Panel Workshop, 16th July 2019: the group agreed that there is enough evidence to rate this gene greenCreated: 2 Aug 2019, 11:03 a.m. | Last Modified: 2 Aug 2019, 11:03 a.m.
Panel Version: 1.27
Lara Hawkes (Genomics England)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Cowden syndrome
Ellen Thomas (Genomics England Curator)
Comment when marking as ready: Cowden syndrome could present in this category.Created: 14 Feb 2016, 5:32 p.m.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- NHS GMS
- Expert List
- Expert Review Green
- Expert list
- UKGTN
- Emory Genetics Laboratory
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- {Glioma susceptibility 2}, 613028
- Macrocephaly/autism syndrome, 605309
- VATER association with macrocephaly and ventriculomegaly, 76950
- {Prostate cancer, somatic}, 176807
- {Meningioma}, 607174
- Squamous cell carcinoma, head and neck, somatic, 275355
- Prostate cancer, somatic}, 176807
- Cowden Disease
- Bannayan-Riley-Ruvalcaba syndrome, 153480
- Malignant melanoma, somatic, 155600
- Cowden syndrome 1, 158350
- Endometrial carcinoma, somatic, 608089
- Cowden Syndrome
- Thyroid carcinoma, follicular, somatic, 188470
- Cowden syndrome
- Lhermitte-Duclos syndrome, 158350
- PTEN hamartoma tumor syndrome
- VATER association with macrocephaly and ventriculomegaly, 276950
- OMIM
- 601728
- Clinvar variants
- Variants in PTEN
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- White matter disorders and cerebral calcification - narrow panel
- Neurological segmental overgrowth
- Radial dysplasia
- VACTERL-like phenotypes
- Familial breast cancer
- Non-syndromic familial congenital anorectal malformations
- Endometrial cancer pertinent cancer susceptibility
- Gastrointestinal neuromuscular disorders
- Adult onset neurodegenerative disorder
- Genodermatoses with malignancies
- Cerebral vascular malformations
- Breast cancer pertinent cancer susceptibility
- Segmental overgrowth disorders - Deep sequencing
- Pigmentary skin disorders
- Multiple endocrine tumours
- Mosaic skin disorders - deep sequencing
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Fetal anomalies
- 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
- Childhood solid tumours cancer susceptibility
- Inherited phaeochromocytoma and paraganglioma
- Vascular skin disorders
- Childhood onset dystonia, chorea or related movement disorder
- Multiple monogenic benign skin tumours
- Familial Tumours Syndromes of the central & peripheral Nervous system
- PTEN Hamartoma Tumour Syndrome
- Cytopenias and congenital anaemias
- Inherited renal cancer
- COVID-19 research
- Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders
- Adult onset leukodystrophy
- Malformations of cortical development
- Early onset or syndromic epilepsy
- 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
- Intellectual disability
- Hereditary neuropathy or pain disorder
- 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
History Filter Activity
Added New Source, Set mode of inheritance, Set Phenotypes, Set publications
Ivone Leong (Genomics England Curator)Source NHS GMS was added to PTEN. Mode of inheritance for gene PTEN was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Added phenotypes Cowden syndrome for gene: PTEN Publications for gene PTEN were changed from to 4635800
Added New Source, Status Update
Ivone Leong (Genomics England Curator)Source Expert List was added to PTEN. Rating Changed from Green List (high evidence) to Green List (high evidence)
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
Added New Source
Eik Haraldsdottir (Genomics England)PTEN was added to Paediatric congenital malformation-dysmorphism-tumour syndromes panel. Sources: Expert list
Added New Source
Eik Haraldsdottir (Genomics England)PTEN was added to Paediatric congenital malformation-dysmorphism-tumour syndromes panel. Sources: UKGTN
Added New Source
Eik Haraldsdottir (Genomics England)PTEN was added to Paediatric congenital malformation-dysmorphism-tumour syndromes panel. Sources: Emory Genetics Laboratory
Added New Source
Eik Haraldsdottir (Genomics England)PTEN was added to Paediatric congenital malformation-dysmorphism-tumour syndromes panel. Sources: Radboud University Medical Center, Nijmegen