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