Vascular Malformations_Germline
Gene: PTENEnsemblGeneIds (GRCh38): ENSG00000171862
EnsemblGeneIds (GRCh37): ENSG00000171862
OMIM: 601728, Gene2Phenotype
PTEN is in 31 panels
2 reviews
Chern Lim (Victorian Clinical Genetics Services)
Phenotypes
PTEN hamartoma tumour syndrome (MONDO#0017623)
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Vascular anomalies are a feature.Created: 16 Jan 2021, 7:21 a.m. | Last Modified: 16 Jan 2021, 7:21 a.m.
Panel Version: 0.121
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Cowden syndrome 1, MIM# 158350
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Green
- Royal Melbourne Hospital
- Phenotypes
-
- Cowden syndrome 1, MIM# 158350
- Bannayan-Riley-Ruvalcaba syndrome
- Lhermitte-Duclos syndrome
- OMIM
- 601728
- Clinvar variants
- Variants in PTEN
- Penetrance
- None
- Publications
- Panels with this gene
-
- Overgrowth
- Additional findings_Adult
- Breast Cancer
- BabyScreen+ newborn screening
- Intellectual disability syndromic and non-syndromic
- Genetic Epilepsy
- Colorectal Cancer and Polyposis
- Cancer Predisposition_Paediatric
- Common Variable Immunodeficiency
- Macrocephaly_Megalencephaly
- Facial papules
- Endometrial Cancer
- Leukodystrophy - paediatric
- Polymicrogyria and Schizencephaly
- Callosome
- Autism
- Thyroid Cancer
- Predominantly Antibody Deficiency
- Leukodystrophy - adult onset
- Kidney Cancer
- Tuberous Sclerosis_Focal Cortical Dysplasia_Hemimegalencephaly
- Incidentalome_PREGEN_DRAFT
- Inflammatory bowel disease
- Vasculitis
- Transplant Co-Morbidity Superpanel
- Hydrocephalus_Ventriculomegaly
- Vascular Malformations_Germline
- Incidentalome
- Fetal anomalies
- Additional findings_Paediatric
- Mosaic skin disorders
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: pten has been classified as Green List (High Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: PTEN were changed from Cowden syndrome; Bannayan-Riley-Ruvalcaba syndrome; Lhermitte-Duclos syndrome to Cowden syndrome 1, MIM# 158350; Bannayan-Riley-Ruvalcaba syndrome; Lhermitte-Duclos syndrome
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: PTEN were set to
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: PTEN was added gene: PTEN was added to Vascular Malformations_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: PTEN was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: PTEN were set to Cowden syndrome; Bannayan-Riley-Ruvalcaba syndrome; Lhermitte-Duclos syndrome