Gastrointestinal epithelial barrier disorders
Gene: PTEN
PTEN (phosphatase and tensin homolog)
EnsemblGeneIds (GRCh38): ENSG00000171862
EnsemblGeneIds (GRCh37): ENSG00000171862
OMIM: 601728, Gene2Phenotype
PTEN is in 54 panels
EnsemblGeneIds (GRCh38): ENSG00000171862
EnsemblGeneIds (GRCh37): ENSG00000171862
OMIM: 601728, Gene2Phenotype
PTEN is in 54 panels
3 reviews
Olivia Niblock (Genomics England Curator)
Comment on list classification: Internal clinical team have advised that whilst variants in this gene are linked to gastrointestinal phenotypes, they are more commonly associated with polyp presentation and risk of tumour development, and therefore not a classical fit for this disorder.
Taking this clinical opinion and the two green reviews, I will class this gene as amberCreated: 25 Jul 2018, 4:11 p.m.
Neil shah (GOSH)
Sarah Leigh (Genomics England Curator)
Associated with phenotype in OMIM, not in G2P / DD. Present on UKGTN Very Early Onset Inflammatory Bowel Disease 40 Gene Panel and Emory Genetics Laboratory Early Onset Inflammatory Bowel Disease: Sequencing Panel. At least nine variants reported in Bannayan-Riley-Ruvalcaba syndrome 153480.Created: 5 Sep 2016, 8:51 a.m.
Comment on phenotypes: Variants also reported in Cowden syndrome 1 158350, Lhermitte-Duclos syndrome 158350, Endometrial carcinoma, somatic 608089, Macrocephaly/autism syndrome 605309, {Melanoma, cutaneous malignant, 1} 155600, Squamous cell carcinoma, head and neck, somatic 275355, VATER association with macrocephaly and ventriculomegaly 276950, {Glioma susceptibility 2} 613028, {Meningioma} 607174, {Prostate cancer, somatic} 176807Created: 5 Sep 2016, 8:44 a.m.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Amber
- Emory Genetics Laboratory
- Expert list
- Phenotypes
-
- PTEN hamartoma tumor syndrome
- Bannayan-Riley-Ruvalcaba syndrome 153480
- OMIM
- 601728
- Clinvar variants
- Variants in PTEN
- Penetrance
- None
- Panels with this gene
-
- 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
- Endocrine neoplasia
- Inherited ovarian cancer (without breast cancer)
- Inherited non-medullary thyroid cancer
- Early onset or syndromic epilepsy
- White matter disorders and cerebral calcification - narrow panel
- Neurological segmental overgrowth
- Radial dysplasia
- Intellectual disability
- VACTERL-like phenotypes
- Familial breast cancer
- 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
- Hereditary neuropathy or pain disorder
- 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
- Familial Tumours Syndromes of the central & peripheral Nervous system
- DDG2P
- PTEN Hamartoma Tumour Syndrome
- Inherited renal cancer
- Adult onset leukodystrophy
History Filter Activity
25 Jul 2018, Gel status: 2
Panel promoted to version 1.0
Olivia Niblock (Genomics England Curator)Panel reviews have been assessed and internal clinical team opinion has been sought on this panel, particularly to rule out incidental findings. Panel has been revised through expert review, internal review and literature research. 25/07/2018
25 Jul 2018, Gel status: 2
Entity classified by Genomics England curator
Olivia Niblock (Genomics England Curator)Gene: pten has been classified as Amber List (Moderate Evidence).
17 Apr 2018, Gel status: 1
Added New Source, Set mode of inheritance, Set penetrance
Olivia Niblock (Genomics England Curator)Emory Genetics Laboratory was added to PTEN. Panel: Gastrointestinal epithelial barrier disorders Model of inheritance for gene PTEN was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene PTEN were set to PTEN hamartoma tumor syndrome, Bannayan-Riley-Ruvalcaba syndrome 153480
17 Apr 2018, Gel status: 1
Added New Source
Olivia Niblock (Genomics England Curator)PTEN was added to Gastrointestinal epithelial barrier disorders panel. Sources: Expert list
17 Apr 2018, Gel status: 1
Created
Olivia Niblock (Genomics England Curator)PTEN was created by Olivia Niblock