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