Familial Tumours Syndromes of the central & peripheral Nervous system
Gene: PTENEnsemblGeneIds (GRCh38): ENSG00000171862
EnsemblGeneIds (GRCh37): ENSG00000171862
OMIM: 601728, Gene2Phenotype
PTEN is in 54 panels
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Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Other
- 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, 76950
- 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
- VATER association with macrocephaly and ventriculomegaly, 276950
- {Prostate cancer, somatic}, 176807
- Cowden Syndrome
- Cowden Disease
- OMIM
- 601728
- Clinvar variants
- Variants in PTEN
- Penetrance
- None
- Panels with this gene
-
- Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders
- Colorectal cancer pertinent cancer susceptibility
- Adult solid tumours for rare disease
- Renal cancer pertinent cancer susceptibility
- GI tract tumours
- Breast cancer pertinent cancer susceptibility
- Sarcoma susceptibility
- Familial prostate cancer
- Early onset dystonia
- Childhood solid tumours
- Adult solid tumours cancer susceptibility
- Endocrine neoplasia
- Inherited ovarian cancer (without breast cancer)
- Inherited non-medullary thyroid cancer
- Early onset or syndromic epilepsy
- White matter disorders and cerebral calcification - narrow panel
- Neurological segmental overgrowth
- Radial dysplasia
- Intellectual disability
- VACTERL-like phenotypes
- Familial breast cancer
- Non-syndromic familial congenital anorectal malformations
- Endometrial cancer pertinent cancer susceptibility
- Hereditary neuropathy
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Gastrointestinal neuromuscular disorders
- Pigmentary skin disorders
- COVID-19 research
- Genodermatoses with malignancies
- Cerebral vascular malformations
- Adult onset neurodegenerative disorder
- Malformations of cortical development
- Hydrocephalus
- Segmental overgrowth disorders - Deep sequencing
- Hereditary neuropathy or pain disorder
- Multiple endocrine tumours
- Mosaic skin disorders - deep sequencing
- Inherited polyposis and early onset colorectal cancer - germline testing
- Fetal anomalies
- Thyroid cancer pertinent cancer susceptibility
- Gastrointestinal epithelial barrier disorders
- Infantile enterocolitis & monogenic inflammatory bowel disease
- Childhood solid tumours cancer susceptibility
- Childhood onset dystonia, chorea or related movement disorder
- Inherited phaeochromocytoma and paraganglioma
- Cytopenias and congenital anaemias
- Adult onset dystonia, chorea or related movement disorder
- Vascular skin disorders
- Multiple monogenic benign skin tumours
- Familial Tumours Syndromes of the central & peripheral Nervous system
- DDG2P
- PTEN Hamartoma Tumour Syndrome
- Inherited renal cancer
- Adult onset leukodystrophy
History Filter Activity
Entity classified by Genomics England curator
Louise Daugherty (Genomics England Curator)Gene: pten has been classified as Green List (High Evidence).
Set Phenotypes
Louise Daugherty (Genomics England Curator)Phenotypes for gene: PTEN were set to 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, 76950; 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; VATER association with macrocephaly and ventriculomegaly, 276950; {Prostate cancer, somatic}, 176807; Cowden Syndrome; Cowden Disease
Added New Source
Louise Daugherty (Genomics England Curator)PTEN was added to Familial Tumours Syndromes of the central & peripheral Nervous system panel. Sources: Other
Created
Louise Daugherty (Genomics England Curator)PTEN was created by Louise Daugherty