Adult onset dystonia, chorea or related movement disorder
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
Louise Daugherty (Genomics England Curator)
This panel was initially created as a merge of genomic entities from the following Rare Disease 100K panels - Early onset dystonia (v1.76, code 192) - Parkinson Disease and Complex Parkinsonism (v1.64, code 39) - Brain channelopathy (v1.48, code 90) - Structural basal ganglia disorders (v1.10, code 180). This gene was RED and external expert review from South West GLH for GMS Neurology specialist test group for R56 agrees this gene should remain REDCreated: 19 Jun 2019, 4:45 p.m.
Review and rating from Emily Jones (North Bristol NHS Trust) on behalf of South West GLH for GMS Neurology specialist test group.Created: 23 Apr 2019, 12:18 p.m.
Emily Jones (North Bristol NHS Trust)
Movement disorders not listed as a phenotye for any of the syndromes associated with this gene on OMIM or G2P.Created: 23 Apr 2019, 12:14 p.m.
Phenotypes
Cowden syndrome 1, 158350; Lhermitte-Duclos syndrome, 158350; Macrocephaly/autism syndrome, 605309; VATER association with macrocephaly and ventriculomegaly, 276950
Details
- Sources
-
- NHS GMS
- South West GLH
- Expert Review Red
- Phenotypes
-
- Cowden syndrome 1, 158350
- Macrocephaly/autism syndrome, 605309
- Lhermitte-Duclos syndrome, 158350
- VATER association with macrocephaly and ventriculomegaly, 276950
- Dystonia
- 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
- Familial breast cancer
- Non-syndromic familial congenital anorectal malformations
- Endometrial cancer pertinent cancer susceptibility
- Inherited polyposis and early onset colorectal cancer - germline testing
- Intellectual disability
- DDG2P
- Cerebral vascular malformations
- Gastrointestinal neuromuscular disorders
- Childhood onset dystonia, chorea or related movement disorder
- Mosaic skin disorders - deep sequencing
- Pigmentary skin disorders
- Genodermatoses with malignancies
- Breast cancer pertinent cancer susceptibility
- Adult onset neurodegenerative disorder
- Malformations of cortical development
- Multiple endocrine tumours
- Thyroid cancer pertinent cancer susceptibility
- Gastrointestinal epithelial barrier disorders
- Hereditary neuropathy
- Fetal anomalies
- 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
- Early onset or syndromic epilepsy
- Cytopenias and congenital anaemias
- COVID-19 research
- 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
- 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
23 Apr 2019, Gel status: 1
Set Phenotypes
Louise Daugherty (Genomics England Curator)Added phenotypes Cowden syndrome 1, 158350; Lhermitte-Duclos syndrome, 158350; VATER association with macrocephaly and ventriculomegaly, 276950; Macrocephaly/autism syndrome, 605309 for gene: PTEN
23 Apr 2019, Gel status: 1
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to PTEN.
23 Apr 2019, Gel status: 1
Added New Source
Louise Daugherty (Genomics England Curator)Source South West GLH was added to PTEN.
3 Jan 2019, Gel status: 1
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ellen McDonagh (Genomics England Curator)gene: PTEN was added gene: PTEN was added to Adult onset movement disorder. Sources: Expert Review Red Mode of inheritance for gene: PTEN was set to Phenotypes for gene: PTEN were set to Dystonia