Transplant Co-Morbidity Superpanel
Gene: PTEN
PTEN (phosphatase and tensin homolog)
EnsemblGeneIds (GRCh38): ENSG00000171862
EnsemblGeneIds (GRCh37): ENSG00000171862
OMIM: 601728, Gene2Phenotype
PTEN is in 31 panels
EnsemblGeneIds (GRCh38): ENSG00000171862
EnsemblGeneIds (GRCh37): ENSG00000171862
OMIM: 601728, Gene2Phenotype
PTEN is in 31 panels
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Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
- Sources
-
- Expert Review Green
- Melbourne Genomics Health Alliance
- Phenotypes
-
- Cowden syndrome 1, MIM# 158350
- OMIM
- 601728
- Clinvar variants
- Variants in PTEN
- Penetrance
- None
- Panels with this gene
-
- Overgrowth
- 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
- Additional findings_Adult
- Mosaic skin disorders
History Filter Activity
1 Aug 2023, Gel status: 3
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: PTEN was added gene: PTEN was added to Transplant Co-Morbidity Superpanel. Sources: Melbourne Genomics Health Alliance,Expert Review Green Mode of inheritance for gene: PTEN was set to MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed) Phenotypes for gene: PTEN were set to Cowden syndrome 1, MIM# 158350