Gastrointestinal neuromuscular 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
2 reviews
Ellen McDonagh (Genomics England Curator)
Comment on list classification: Gene added by expert reviewer, who recommended this should be amber as this is both a early onset IBD gene and it is a psudobstruction gene. It is a green gene on the version 1.0 Infantile enterocolitis & monogenic inflammatory bowel disease gene panel.Created: 19 Oct 2016, 1:23 p.m.
Neil shah (GOSH)
Details
- Sources
-
- Expert Review Amber
- Phenotypes
-
- Bannayan-Riley-Ruvalcaba syndrome 153480
- OMIM
- 601728
- Clinvar variants
- Variants in PTEN
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- DDG2P
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Childhood solid tumours
- Early onset or syndromic epilepsy
- 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
- White matter disorders and cerebral calcification - narrow panel
- Hereditary neuropathy
- Segmental overgrowth disorders - Deep sequencing
- Genodermatoses with malignancies
- Adult onset leukodystrophy
- Breast cancer pertinent cancer susceptibility
- PTEN Hamartoma Tumour Syndrome
- Multiple endocrine tumours
- Pigmentary skin disorders
- Adult onset dystonia, chorea or related movement disorder
- Cerebral vascular malformations
- Thyroid cancer pertinent cancer susceptibility
- Inherited renal cancer
- Gastrointestinal epithelial barrier disorders
- Vascular skin disorders
- Infantile enterocolitis & monogenic inflammatory bowel disease
- Childhood solid tumours cancer susceptibility
- Inherited phaeochromocytoma and paraganglioma
- Inherited ovarian cancer (without breast cancer)
- Hydrocephalus
- Fetal anomalies
- Adult onset neurodegenerative disorder
- 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
- Intellectual disability
- Neurological segmental overgrowth
- 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
History Filter Activity
26 Oct 2016, Gel status: 2
panel promoted to version 1
Ellen McDonagh (Genomics England Curator)26th October 2016: panel revised after expert review and further curation of the analysis, with then internal clinical review. Ready for promotion to version 1.
19 Oct 2016, Gel status: 2
Set publications
Ellen McDonagh (Genomics England Curator)Publications for PTEN were set to 21258937;19884655
19 Oct 2016, Gel status: 2
Set publications
Ellen McDonagh (Genomics England Curator)Publications for PTEN were set to 21258937
19 Oct 2016, Gel status: 2
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for PTEN were set to Bannayan-Riley-Ruvalcaba syndrome 153480
19 Oct 2016, Gel status: 2
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Amber List (Moderate Evidence).
12 Oct 2016, Gel status: 0
Created
Neil shah (GOSH)PTEN was created by neil shah
12 Oct 2016, Gel status: 0
Added New Source
Neil shah (GOSH)PTEN was added to Neonatal and familial gastrointestinal neuromuscular disorderspanel. Sources: Expert Review