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