Thyroid Cancer
Gene: PTENEnsemblGeneIds (GRCh38): ENSG00000171862
EnsemblGeneIds (GRCh37): ENSG00000171862
OMIM: 601728, Gene2Phenotype
PTEN is in 31 panels
1 review
Chirag Patel (Genetic Health Queensland)
ClinGen definitive. Follicular thyroid cancer reported in condition.
Sources: Expert list, Expert ReviewCreated: 12 Sep 2024, 5:41 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Thyroid cancer, MONDO:0002108; Thyroid gland follicular carcinoma, MONDO:0005034; PTEN hamartoma tumor syndrome, MONDO:0017623; PTEN hamartoma tumour syndromes, MIM#158350
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Expert Review
- Expert list
- Phenotypes
-
- Thyroid cancer, MONDO:0002108
- Thyroid gland follicular carcinoma, MONDO:0005034
- PTEN hamartoma tumor syndrome, MONDO:0017623
- PTEN hamartoma tumour syndromes, MIM#158350
- OMIM
- 601728
- Clinvar variants
- Variants in PTEN
- Penetrance
- None
- 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).
Entity classified by Genomics England curator
Chirag Patel (Genetic Health Queensland)Gene: pten has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Chirag Patel (Genetic Health Queensland)gene: PTEN was added gene: PTEN was added to Thyroid Neoplasm. Sources: Expert list,Expert Review Mode of inheritance for gene: PTEN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: PTEN were set to Thyroid cancer, MONDO:0002108; Thyroid gland follicular carcinoma, MONDO:0005034; PTEN hamartoma tumor syndrome, MONDO:0017623; PTEN hamartoma tumour syndromes, MIM#158350 Review for gene: PTEN was set to GREEN