Segmental overgrowth disorders - Deep sequencing
Gene: PTENEnsemblGeneIds (GRCh38): ENSG00000171862
EnsemblGeneIds (GRCh37): ENSG00000171862
OMIM: 601728, Gene2Phenotype
PTEN is in 54 panels
2 reviews
Rebecca Foulger (Genomics England curator)
Comment when marking as ready: PTEN rated as green based on expert review and is a confirmed DD gene for the Bannayan-Riley-Ruvalcaba (Bannayan-Zonana) syndrome.Created: 15 Nov 2016, 5:08 p.m.
Richard Scott (North Thames GMC/UCL)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Bannayan-Riley-Ruvalcaba syndrome, 153480; BRRS; Bannayan-Riley-Ruvalcaba syndrome,153480; PHTS; PTEN Hamartoma Tumor Syndrome; Macrocephaly and Overgrowth Syndromes; megalencephaly; macrocephaly; Bannayan Riley Ruvalcalba Syndrome; Bannayan-Riley-Ruvalcaba Syndrome; Cowden syndrome; Proteus-like syndrome; hemihypertrophy
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Other
- UKGTN
- Emory Genetics Laboratory
- Radboud University Medical Center, Nijmegen
- Expert Review
- Phenotypes
-
- Bannayan-Riley-Ruvalcaba syndrome, 153480
- BRRS
- Bannayan-Riley-Ruvalcaba syndrome,153480
- PHTS
- PTEN Hamartoma Tumor Syndrome
- Macrocephaly and Overgrowth Syndromes
- megalencephaly
- macrocephaly
- Bannayan Riley Ruvalcalba Syndrome
- Bannayan-Riley-Ruvalcaba Syndrome
- Cowden syndrome
- Proteus-like syndrome
- hemihypertrophy
- OMIM
- 601728
- Clinvar variants
- Variants in PTEN
- Penetrance
- Complete
- Panels with this gene
-
- 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
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Gastrointestinal neuromuscular disorders
- Pigmentary skin disorders
- Genodermatoses with malignancies
- Cerebral vascular malformations
- Breast cancer pertinent cancer susceptibility
- Segmental overgrowth disorders - Deep sequencing
- Early onset or syndromic epilepsy
- Multiple endocrine tumours
- Mosaic skin disorders - deep sequencing
- Childhood onset dystonia, chorea or related movement disorder
- DDG2P
- Inherited polyposis and early onset colorectal cancer - germline testing
- Thyroid cancer pertinent cancer susceptibility
- Gastrointestinal epithelial barrier disorders
- Infantile enterocolitis & monogenic inflammatory bowel disease
- Fetal anomalies
- Childhood solid tumours cancer susceptibility
- Intellectual disability
- Inherited phaeochromocytoma and paraganglioma
- Cytopenias and congenital anaemias
- Vascular skin disorders
- Hereditary neuropathy
- Multiple monogenic benign skin tumours
- Familial Tumours Syndromes of the central & peripheral Nervous system
- PTEN Hamartoma Tumour Syndrome
- Inherited renal cancer
- COVID-19 research
- Adult onset neurodegenerative disorder
- Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders
- Adult onset leukodystrophy
- Malformations of cortical development
- Hydrocephalus
- Childhood solid tumours
- 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
- Adult solid tumours cancer susceptibility
- Adult onset dystonia, chorea or related movement disorder
- Endocrine neoplasia
- Inherited ovarian cancer (without breast cancer)
- Inherited non-medullary thyroid cancer
History Filter Activity
panel promoted to version 1
Rebecca Foulger (Genomics England curator)28 November 2016: Reviews were assessed, and panel was revised according to expert review and additional curation.
Gene classified by Genomics England curator
Rebecca Foulger (Genomics England curator)This gene has been classified as Green List (High Evidence).
Set Mode of Inheritance
Rebecca Foulger (Genomics England curator)Mode of inheritance for PTEN was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added New Source
Rebecca Foulger (Genomics England curator)PTEN was added to Regional overgrowth disorderspanel. Source: Other
Added New Source
Rebecca Foulger (Genomics England curator)PTEN was added to Regional overgrowth disorderspanel. Source: UKGTN
Added New Source
Rebecca Foulger (Genomics England curator)PTEN was added to Regional overgrowth disorderspanel. Source: Emory Genetics Laboratory
Added New Source
Rebecca Foulger (Genomics England curator)PTEN was added to Regional overgrowth disorderspanel. Source: Radboud University Medical Center, Nijmegen
Added New Source
Rebecca Foulger (Genomics England curator)PTEN was added to Regional overgrowth disorderspanel. Sources: Expert Review
Created
Rebecca Foulger (Genomics England curator)PTEN was created by rfoulger