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