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