PanelApp (stage)
  1. Genes and Genomic Entities
  2. PTEN

PTEN

phosphatase and tensin homolog
OMIM: 601728, Gene2Phenotype

30 panels

Panel Reviews Mode of inheritance Details
30 panels

Green PTEN in Polymicrogyria and Schizencephaly


Level 2: Neurology and neurodevelopmental disorders
Version 0.189

Component of the following Super Panels:

  • Malformations of cortical development_Superpanel

    		•  review 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 0.48

    Component of the following Super Panels:

  • Malformations of cortical development_Superpanel

    		•  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 Vasculitis


    Level 2: Immunological disorders
    Version 0.82

    		review Unknown
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green

    Green PTEN in Autism


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.198

    		review Unknown
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green

    Green PTEN in Hydrocephalus_Ventriculomegaly


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.123

    		review Unknown
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green

    Red PTEN in Inflammatory bowel disease


    Level 2: Gastroenterological disorders
    Version 0.121

    Component of the following Super Panels:

  • Immunological disorders_SuperPanel

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

    Green PTEN in Incidentalome


    Version 0.301

    		review Unknown
    Sources
    • Expert Review Green
    • Melbourne Genomics Health Alliance
    • Victorian Clinical Genetics Services
    • Expert Review Green

    Green PTEN in Macrocephaly_Megalencephaly


    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 0.140

    		review Unknown
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green

    Green PTEN in Overgrowth


    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 1.12

    		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 0.131

    		review Unknown
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green

    Green PTEN in Genetic Epilepsy


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.33

    Component of the following Super Panels:

  • Progressive Neurological Conditions

    		•  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 0.522

    		review Unknown
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green

    Green PTEN in Additional findings_Adult


    Level 2: Screening
    Version 0.166

    		review 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 Common Variable Immunodeficiency


    Level 2: Immunological disorders
    Version 1.12

    Component of the following Super Panels:

  • Immunological disorders_SuperPanel

    		•  review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Macrocephaly/autism syndrome MIM#605309
    • Cowden syndrome 1 MIM#158350
    • Skewed immune repertoire composition

    Green PTEN in Homologous_recombination_deficiency_WTS_UMCCR


    Level 2: Cancer
    Version 0.43

    		review 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 0.6063

    		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 - paediatric


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.308

    Component of the following Super Panels:

  • Leukodystrophy_Superpanel
  • Progressive Neurological Conditions

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

    Green PTEN in Leukodystrophy - adult onset


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.140

    Component of the following Super Panels:

  • Leukodystrophy_Superpanel
  • Progressive Neurological Conditions

    		•  review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • Royal Melbourne Hospital
    Phenotypes
    • Cowden syndrome 1, MIM# 158350

    Green PTEN in Vascular Malformations_Germline


    Level 2: Cardiovascular disorders
    Version 1.11

    Component of the following Super Panels:

  • Vascular Malformations SuperPanel

    		•  review 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

    Red PTEN in CGC_86


    Version 0.2

    		review Other
    Sources
    • CGC_86
    Phenotypes
    • PTEN hamartoma tumor syndrome
    • Cowden syndrome 1

    Red PTEN in NCGC


    Version 0.2

    		review Other
    Sources
    • NCGC
    Phenotypes
    • PTEN hamartoma tumor syndrome
    • Cowden syndrome 1

    Red PTEN in TCGA_PANCAN_2018


    Version 0.2

    		review Other
    Sources
    • TCGA_PANCAN_2018
    Phenotypes
    • Cowden syndrome 1
    • PTEN hamartoma tumor syndrome

    Red PTEN in Cerebral vascular malformations


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.39

    Component of the following Super Panels:

  • Progressive Neurological Conditions

    		•  review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Genomics England PanelApp
    • Expert Review Red
    Phenotypes
    • Bannayan-Riley-Ruvalcaba Syndrome

    Green PTEN in Additional findings_Paediatric


    Level 2: Screening
    Version 0.278

    		review 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 0.43

    		review Unknown
    Sources
    • NSW Health Pathology
    • Expert Review Green

    Green PTEN in Mosaic skin disorders


    Level 2: Dermatological disorders
    Version 1.12

    Component of the following Super Panels:

  • Vascular Malformations SuperPanel

    		•  review 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 1.255

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

    Red PTEN in BabyScreen+ newborn screening


    Level 2: Screening
    Version 1.113

    		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 1.0

    		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 Superpanel


    Level 2: Screening
    Version 0.18

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