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