Vascular skin disorders
Gene: PTENEnsemblGeneIds (GRCh38): ENSG00000171862
EnsemblGeneIds (GRCh37): ENSG00000171862
OMIM: 601728, Gene2Phenotype
PTEN is in 54 panels
1 review
Rebecca Foulger (Genomics England curator)
Added PTEN to the 'Vascular skin disorders' panel as suggested by Anna de Burca and Ellen Thomas, based on capillary malformations associated with (at least) Cowden syndrome. Rated PTEN as Amber awaiting clinical feedback from skin Webex call.
Sources: OtherCreated: 17 Apr 2019, 4:52 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Cowden syndrome 1, 158350
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Amber
- Other
- Phenotypes
-
- Cowden syndrome 1, OMIM:158350
- capillary venous malformations
- OMIM
- 601728
- Clinvar variants
- Variants in PTEN
- Penetrance
- None
- Panels with this gene
-
- DDG2P
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Childhood solid tumours
- Fetal anomalies
- Inherited non-medullary thyroid cancer
- Radial dysplasia
- Multiple monogenic benign skin tumours
- Inherited polyposis and early onset colorectal cancer - germline testing
- VACTERL-like phenotypes
- Familial breast cancer
- Non-syndromic familial congenital anorectal malformations
- Endometrial cancer pertinent cancer susceptibility
- Adult solid tumours cancer susceptibility
- Malformations of cortical development
- Mosaic skin disorders - deep sequencing
- Gastrointestinal neuromuscular disorders
- White matter disorders and cerebral calcification - narrow panel
- Adult onset leukodystrophy
- Hereditary neuropathy
- Segmental overgrowth disorders - Deep sequencing
- Genodermatoses with malignancies
- Breast cancer pertinent cancer susceptibility
- PTEN Hamartoma Tumour Syndrome
- Intellectual disability
- Hydrocephalus
- Multiple endocrine tumours
- Pigmentary skin disorders
- Cerebral vascular malformations
- Early onset or syndromic epilepsy
- Thyroid cancer pertinent cancer susceptibility
- Inherited renal cancer
- Gastrointestinal epithelial barrier disorders
- Vascular skin disorders
- Infantile enterocolitis & monogenic inflammatory bowel disease
- Childhood solid tumours cancer susceptibility
- Inherited phaeochromocytoma and paraganglioma
- Inherited ovarian cancer (without breast cancer)
- Adult onset neurodegenerative disorder
- Familial Tumours Syndromes of the central & peripheral Nervous system
- Endocrine neoplasia
- Cytopenias and congenital anaemias
- COVID-19 research
- Childhood onset dystonia, chorea or related movement disorder
- Adult onset dystonia, chorea or related movement disorder
- Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders
- Neurological segmental overgrowth
- Colorectal cancer pertinent cancer susceptibility
- Adult solid tumours for rare disease
- Renal cancer pertinent cancer susceptibility
- GI tract tumours
- Sarcoma susceptibility
- Hereditary neuropathy or pain disorder
- Familial prostate cancer
- Early onset dystonia
History Filter Activity
Set Phenotypes
Ivone Leong (Genomics England Curator)Phenotypes for gene: PTEN were changed from Cowden syndrome 1, 158350; capillary venous malformations to Cowden syndrome 1, OMIM:158350; capillary venous malformations
Set Phenotypes
Rebecca Foulger (Genomics England curator)Phenotypes for gene: PTEN were changed from Cowden syndrome 1, 158350 to Cowden syndrome 1, 158350; capillary venous malformations
Entity classified by Genomics England curator
Rebecca Foulger (Genomics England curator)Gene: pten has been classified as Amber List (Moderate Evidence).
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Rebecca Foulger (Genomics England curator)gene: PTEN was added gene: PTEN was added to Vascular skin disorders. Sources: Other Mode of inheritance for gene: PTEN was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: PTEN were set to Cowden syndrome 1, 158350