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