Inherited renal cancer
Gene: PTENEnsemblGeneIds (GRCh38): ENSG00000171862
EnsemblGeneIds (GRCh37): ENSG00000171862
OMIM: 601728, Gene2Phenotype
PTEN is in 54 panels
6 reviews
Rebecca Foulger (Genomics England curator)
Comment on list classification: PTEN has been changed from red to amber based on a comment by Shazia Mahamdallie (email communication, October 11th 2019) who notes that "amber status might be more appropriate, i.e. evidence of association but not significant".Created: 14 Oct 2019, 12:52 p.m. | Last Modified: 14 Oct 2019, 12:52 p.m.
Panel Version: 0.41
Ivone Leong (Genomics England Curator)
Comment on list classification: PTEN has been demoted from green to red as it was decided that it does not contribute significantly to inherited renal cancer susceptibility.Created: 12 Sep 2019, 12:56 p.m. | Last Modified: 12 Sep 2019, 12:56 p.m.
Panel Version: 0.39
As discussed in the GMS Inherited Cancer Specialist Test Group webex call 31st Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green.Created: 31 Jul 2019, 12:50 p.m. | Last Modified: 31 Jul 2019, 12:50 p.m.
Panel Version: 0.38
Lara Hawkes (Genomics England)
Rachel Robinson (Leeds Genetics Laboratory)
Sources: UKGTNCreated: 28 Dec 2018, 10:58 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Variants in this GENE are reported as part of current diagnostic practice
Ellen McDonagh (Genomics England Curator)
Comment on list classification: Details checked against the Gene List for Reporting Germline Findings in Cancer Patients Version 1.5 document, for renal tumour type.Created: 26 Jul 2017, 12:15 p.m.
Clare Turnbull (Queen Mary University London)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Breast; Colorectal; Endometrial Carcinoma; Renal
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Amber
- Expert List
- Phenotypes
-
- Renal cell carcinoma (disease), MONDO:0005086
- OMIM
- 601728
- Clinvar variants
- Variants in PTEN
- Penetrance
- None
- Panels with this gene
-
- Endocrine neoplasia
- Inherited ovarian cancer (without breast cancer)
- Inherited non-medullary thyroid cancer
- Hereditary neuropathy or pain disorder
- Neurological segmental overgrowth
- Radial dysplasia
- VACTERL-like phenotypes
- Familial breast cancer
- White matter disorders and cerebral calcification - narrow panel
- 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
- 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
- Early onset or syndromic epilepsy
- Familial Tumours Syndromes of the central & peripheral Nervous system
- DDG2P
- PTEN Hamartoma Tumour Syndrome
- Inherited renal cancer
- Intellectual disability
- Adult onset leukodystrophy
- 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
History Filter Activity
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: PTEN were changed from to Renal cell carcinoma (disease), MONDO:0005086
Entity classified by Genomics England curator
Rebecca Foulger (Genomics England curator)Gene: pten has been classified as Amber List (Moderate Evidence).
Entity classified by Genomics England curator
Ivone Leong (Genomics England Curator)Gene: pten has been classified as Red List (Low Evidence).
Entity classified by Genomics England curator
Ivone Leong (Genomics England Curator)Gene: pten has been classified as Green List (High Evidence).
Added New Source, Status Update
Ivone Leong (Genomics England Curator)Source Expert List was added to PTEN. Rating Changed from No List (delete) to Red List (low evidence)
Created, Added New Source, Set mode of inheritance
Rachel Robinson (Leeds Genetics Laboratory)gene: PTEN was added gene: PTEN was added to Inherited renal cancer. Sources: UKGTN Mode of inheritance for gene: PTEN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Review for gene: PTEN was set to GREEN gene: PTEN was marked as current diagnostic