This Panel is marked as Internal
Non-Fanconi anaemia
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
Mark Greenslade (Bristol Genetics Laboratory)
Does not meet clinical inclusion criteria.Created: 16 Oct 2015, 2:52 p.m.
Details
- Sources
-
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- Cowden syndrome 1, 158350
- Lhermitte-Duclos syndrome, 158350
- Bannayan-Riley-Ruvalcaba syndrome, 153480{Meningioma}, 607174
- {Glioma susceptibility 2}, 613028
- Macrocephaly/autism syndrome, 605309
- PTEN hamartoma tumor syndrome
- VATER association with macrocephaly and ventriculomegaly, 276950
- {Prostate cancer, somatic}, 176807
- Thyroid carcinoma, follicular, somatic, 188470
- Malignant melanoma, somatic, 155600
- Endometrial carcinoma, somatic, 608089
- Squamous cell carcinoma, head and neck, somatic, 275355
- OMIM
- 601728
- Clinvar variants
- Variants in PTEN
- Penetrance
- Complete
- Panels with this gene
-
- 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
- Intellectual disability
- GI tract tumours
- Sarcoma susceptibility
- Familial prostate cancer
- Early onset dystonia
- Inherited polyposis and early onset colorectal cancer - germline testing
- 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
- Hereditary neuropathy or pain disorder
- VACTERL-like phenotypes
- Familial breast cancer
- Non-syndromic familial congenital anorectal malformations
- Endometrial cancer pertinent cancer susceptibility
- Adult solid tumours cancer susceptibility
- Gastrointestinal neuromuscular disorders
- Malformations of cortical development
- Neurological segmental overgrowth
- DDG2P
- Genodermatoses with malignancies
- Fetal anomalies
- Breast cancer pertinent cancer susceptibility
- Neurodegenerative disorders, adult onset
- Early onset or syndromic epilepsy
- Dystonia, chorea or related movement disorder, childhood onset
- Dystonia, chorea or related movement disorder, adult onset
- Hereditary neuropathy
- Endocrine neoplasia
- Multiple endocrine tumours
- Pigmentary skin disorders
- Thyroid cancer pertinent cancer susceptibility
- Gastrointestinal epithelial barrier disorders
- Inherited renal cancer
- Leukodystrophy, adult onset
- PTEN Hamartoma Tumor Syndrome
- Infantile enterocolitis & monogenic inflammatory bowel disease
- Childhood solid tumours cancer susceptibility
- Inherited phaeochromocytoma and paraganglioma
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Segmental overgrowth disorders - Deep sequencing
- Familial Tumours Syndromes of the central & peripheral Nervous system
- Cytopenias and congenital anaemias
- COVID-19 research
- Cerebral vascular malformations
History Filter Activity
30 Sep 2015, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)PTEN was added to Non-Fanconi anaemiapanel. Source: Radboud University Medical Center, Nijmegen
15 Jul 2015, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)PTEN was added to Non-Fanconi anaemiapanel. Sources: Radboud University Medical Center, Nijmegen