PTEN

phosphatase and tensin homolog
OMIM: 601728, ClinGen, DECIPHER

29 panels

Panel Reviews Mode of inheritance Details
29 panels

Green PTEN in Polymicrogyria and Schizencephaly


Level 2: Neurology and neurodevelopmental disorders
Version 1.0

2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Macrocephaly/autism syndrome, MIM# 605309

Green PTEN in Tuberous Sclerosis_Focal Cortical Dysplasia_Hemimegalencephaly


Level 2: Neurology and neurodevelopmental disorders
Version 1.0

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Brain Malformations Flagship
Phenotypes
  • Cowden syndrome 1 158350
  • Lhermitte-Duclos syndrome 158350
  • Macrocephaly/autism syndrome 605309

Green PTEN in Autism


Level 2: Neurology and neurodevelopmental disorders
Version 1.0

0 reviews Unknown
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green

Green PTEN in Hydrocephalus_Ventriculomegaly


Level 2: Neurology and neurodevelopmental disorders
Version 1.0

0 reviews Unknown
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green

Red PTEN in Inflammatory bowel disease


Level 2: Gastroenterological disorders
Version 1.0

2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Colitis

Green PTEN in Incidentalome


Version 1.0

2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance
  • Victorian Clinical Genetics Services
Phenotypes
  • Cowden syndrome 1, MIM# 158350

Green PTEN in Macrocephaly_Megalencephaly


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.0

0 reviews Unknown
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green

Green PTEN in Overgrowth


Level 2: Dysmorphic and congenital abnormality syndromes
Version 2.0

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Cowden syndrome 1, MIM# 158350
  • Macrocephaly/autism syndrome, MIM# 605309
  • PTEN hamartoma tumor syndrome MONDO:0017623

Green PTEN in Cancer Predisposition_Paediatric


Level 2: Cancer
Version 1.0

0 reviews Unknown
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green

Green PTEN in Genetic Epilepsy


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Epilepsy Flagship
Phenotypes
  • Cowden syndrome 1, MIM#158350

Green PTEN in Callosome


Level 2: Neurology and neurodevelopmental disorders
Version 1.0

0 reviews Unknown
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green

Green PTEN in Additional findings_Adult


Level 2: Screening
Version 2.0

2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance
Phenotypes
  • Cowden syndrome 1, MIM# 158350
  • PTEN hamartoma tumour syndrome (MONDO#0017623)

Green PTEN in Predominantly Antibody Deficiency


Level 2: Immunological disorders
Version 2.0

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • PTEN hamartoma tumor syndrome MONDO:0017623

Green PTEN in Homologous_recombination_deficiency_WTS_UMCCR


Level 2: Cancer
Version 1.0

0 reviews Unknown
Sources
  • Expert list
  • Expert Review Green
Tags
  • umccr

Green PTEN in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Genetic Health Queensland
Phenotypes
  • Cowden syndrome 1 MIM#158350
  • Macrocephaly/autism syndrome MIM#605309
  • PTEN hamartoma tumor syndrome MONDO:0017623

Green PTEN in Leukodystrophy


Level 2: Neurology and neurodevelopmental disorders
Version 1.0

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Cowden syndrome 1, MIM# 158350

Green PTEN in Vascular Malformations_Germline


Level 2: Cardiovascular disorders
Version 2.0

2 reviews 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

Green PTEN in Additional findings_Paediatric


Level 2: Screening
Version 1.0

0 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Cowden disease
  • Bannayan-Riley-Ruvalcaba syndrome

Green PTEN in Incidentalome_PREGEN_DRAFT


Version 1.0

0 reviews Unknown
Sources
  • NSW Health Pathology
  • Expert Review Green

Green PTEN in Mosaic skin disorders


Level 2: Dermatological disorders
Version 2.0

2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Genomics England PanelApp
  • NHS GMS
Phenotypes
  • Epidermal naevi
  • Cowden syndrome
  • Bannayan-Riley-Ruvalcaba syndrome
  • Melanoma
Tags
  • somatic

Amber PTEN in Fetal anomalies


Version 2.0

2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Genomics England PanelApp
  • Literature
Phenotypes
  • Macrocephaly/autism syndrome, MIM# 605309

Red PTEN in Genomic newborn screening: BabyScreen+


Level 2: Screening
Version 2.0

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • BabySeq Category A gene
Phenotypes
  • Cowden syndrome 1, MIM# 158350
  • Macrocephaly/autism syndrome, MIM# 605309
Tags
  • for review
  • cancer

Green PTEN in Facial papules


Level 2: Dermatological disorders
Version 2.0

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • PTEN hamartoma tumor syndrome MONDO:0017623

Green PTEN in Transplant Co-Morbidity


Level 2: Screening
Version 1.0

0 reviews MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance
Phenotypes
  • Cowden syndrome 1, MIM# 158350

Green PTEN in Thyroid Cancer


Level 2: Cancer Predisposition
Version 2.0

1 review 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

Green PTEN in Kidney Cancer


Level 2: Cancer Predisposition
Version 2.0

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert Review
  • Expert list
Phenotypes
  • Renal carcinoma, MONDO:0005206
  • PTEN hamartoma tumor syndrome, MONDO:0017623
  • PTEN hamartoma tumour syndromes, MIM#158350

Green PTEN in Colorectal Cancer and Polyposis


Level 2: Cancer Predisposition
Version 2.0

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert Review
  • Expert list
Phenotypes
  • PTEN hamartoma tumor syndrome, MONDO:0017623
  • PTEN hamartoma tumour syndromes, MIM#158350

Green PTEN in Endometrial Cancer


Level 2: Cancer Predisposition
Version 2.0

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert Review
  • Expert list
Phenotypes
  • Endometrial cancer, MONDO:0011962
  • PTEN hamartoma tumor syndrome, MONDO:0017623
  • PTEN hamartoma tumour syndromes, MIM#158350

Green PTEN in Breast Cancer


Level 2: Cancer Predisposition
Version 2.0

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert Review
  • Expert list
Phenotypes
  • Breast cancer, MONDO:0007254
  • PTEN hamartoma tumor syndrome, MONDO:0017623
  • PTEN hamartoma tumour syndromes, MIM#158350