Early onset dystonia
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
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Details
- Sources
-
- Emory Genetics Laboratory
- Phenotypes
-
- Dystonia
- OMIM
- 601728
- Clinvar variants
- Variants in PTEN
- Penetrance
- Complete
- 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
17 Oct 2016, Gel status: 1
panel promoted to version 1
Ellen McDonagh (Genomics England Curator)17th Oct 2016: Promoted to version 1. The panel was revised after expert input and internal discussion with the clinical team. Other panels such as hereditary ataxia or dementia may be applied in conjunction with this panel where appropriate for genome analysis.
28 Apr 2015, Gel status: 1
Added New Source
GEL ()PTEN was added to Early onset dystoniapanel. Sources: Emory Genetics Laboratory