Endocrine neoplasia
Gene: PTENEnsemblGeneIds (GRCh38): ENSG00000171862
EnsemblGeneIds (GRCh37): ENSG00000171862
OMIM: 601728, Gene2Phenotype
PTEN is in 54 panels
2 reviews
Achchuthan Shanmugasundram (Genomics England Curator)
After NHS Genomic Medicine Service consideration, the rating of this gene has not been changed and remains Amber.Created: 2 Feb 2023, noon | Last Modified: 2 Feb 2023, noon
Panel Version: 2.2
Ivone Leong (Genomics England Curator)
This gene was proposed to be added to this panel with Green status by Soo-Mi Park (East Anglian Medical Genetics Service). No further evidence was provided.
This gene has been given an Amber rating and will reviewed by GMS before Green status is given.
Sources: Expert listCreated: 11 Feb 2021, 11:28 a.m. | Last Modified: 11 Feb 2021, 11:31 a.m.
Panel Version: 1.14
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Amber
- Expert list
- OMIM
- 601728
- Clinvar variants
- Variants in PTEN
- Penetrance
- None
- Panels with this gene
-
- 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
- Renal cancer pertinent cancer susceptibility
- Intellectual disability
- GI tract tumours
- Sarcoma susceptibility
- Familial prostate cancer
- Early onset dystonia
- 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
- Malformations of cortical development
- Neurological segmental overgrowth
- Genodermatoses with malignancies
- Fetal anomalies
- Breast cancer pertinent cancer susceptibility
- Neurodegenerative disorders, adult onset
- Early onset or syndromic epilepsy
- 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
History Filter Activity
Removed Tag, Removed Tag, Removed Tag, Removed Tag
Achchuthan Shanmugasundram (Genomics England Curator)Tag Q2_21_rating was removed from gene: PTEN. Tag Q2_21_phenotype was removed from gene: PTEN. Tag Q2_21_expert_review was removed from gene: PTEN. Tag Q2_21_NHS_review was removed from gene: PTEN.
Added Tag
Eleanor Williams (Genomics England Curator)Tag Q2_21_expert_review tag was added to gene: PTEN.
Added Tag, Added Tag
Ivone Leong (Genomics England Curator)Tag Q2_21_rating tag was added to gene: PTEN. Tag Q2_21_NHS_review tag was added to gene: PTEN.
Entity classified by Genomics England curator
Ivone Leong (Genomics England Curator)Gene: pten has been classified as Amber List (Moderate Evidence).
Created, Added New Source, Added Tag, Set mode of inheritance
Ivone Leong (Genomics England Curator)gene: PTEN was added gene: PTEN was added to Endocrine neoplasms. Sources: Expert list Q2_21_phenotype tags were added to gene: PTEN. Mode of inheritance for gene: PTEN was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Review for gene: PTEN was set to AMBER