This Panel is marked as Deleted
GMS Neurology specialist test group-Movement disorders - childhood onset-SWGLH
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
1 review
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: 9 Jul 2019, 3:59 p.m. | Last Modified: 9 Jul 2019, 3:59 p.m.
Panel Version: 0.10
Details
- Mode of Inheritance
- BOTH monoallelic and biallelic, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- South West GLH
- Phenotypes
-
- Lhermitte-Duclos syndrome, 158350
- Cowden syndrome 1, 158350
- Macrocephaly/autism syndrome, 605309
- VATER association with macrocephaly and ventriculomegaly, 276950
- 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
- DDG2P
- Cerebral vascular malformations
- Gastrointestinal neuromuscular disorders
- Fetal anomalies
- Mosaic skin disorders - deep sequencing
- Pigmentary skin disorders
- Genodermatoses with malignancies
- Breast cancer pertinent cancer susceptibility
- Adult onset neurodegenerative disorder
- Multiple endocrine tumours
- Childhood onset dystonia, chorea or related movement disorder
- Thyroid cancer pertinent cancer susceptibility
- Gastrointestinal epithelial barrier disorders
- Hereditary neuropathy
- 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
- Cytopenias and congenital anaemias
- COVID-19 research
- Malformations of cortical development
- Intellectual disability
- 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
- Early onset or syndromic epilepsy
- 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
9 Jul 2019, Gel status: 1
Set mode of inheritance, Set Phenotypes
Louise Daugherty (Genomics England Curator)Mode of inheritance for gene PTEN was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Added phenotypes Lhermitte-Duclos syndrome, 158350; Cowden syndrome 1, 158350; Macrocephaly/autism syndrome, 605309; VATER association with macrocephaly and ventriculomegaly, 276950 for gene: PTEN
2 Apr 2019, Gel status: 1
Added New Source
Louise Daugherty (Genomics England Curator)Source Expert Review Red was added to PTEN.
2 Apr 2019, Gel status: 1
Created, Added New Source, Set mode of inheritance
Louise Daugherty (Genomics England Curator)gene: PTEN was added gene: PTEN was added to GMS Neurology specialist test group-Movement disorders - childhood onset-SWGLH. Sources: South West GLH Mode of inheritance for gene: PTEN was set to