PTEN

phosphatase and tensin homolog
OMIM: 601728, Gene2Phenotype

55 panels

Panel Reviews Mode of inheritance Details
55 panels

Green PTEN in Familial breast cancer

Level 3: Breast and endocrine
Level 2: Tumour syndromes
Version 1.13

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Emory Genetics Laboratory
Phenotypes
  • High Risk Breast Cancer
  • Breast and Ovarian Cancer

Red PTEN in Familial prostate cancer


Version 1.1

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Other
Phenotypes
  • harmartoma, glioma, prostate, endometrial
  • Cowden syndrome, Bannayan-Riley-Ruvalcaba syndrome

Green PTEN in Infantile enterocolitis & monogenic inflammatory bowel disease

Level 3: Gastrointestinal disorders
Level 2: Gastroenterological disorders
Version 1.19

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
  • Expert list
Phenotypes
  • PTEN hamartoma tumor syndrome
  • Bannayan-Riley-Ruvalcaba syndrome 153480

Amber PTEN in Radial dysplasia

Level 3: Dysmorphic disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.13

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • Other
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • VATER association with macrocephaly and ventriculomegaly,276950
  • VACTERL ASSOCIATION WITH HYDROCEPHALUS
  • VACTERL-H

Green PTEN in Inherited non-medullary thyroid cancer

Level 3: Breast and endocrine
Level 2: Tumour syndromes
Version 1.5

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • Emory Genetics Laboratory
Phenotypes
  • Cowden syndrome 1 158350
  • Lhermitte-Duclos syndrome 158350

Green PTEN in Genodermatoses with malignancies

Level 3: Skin
Level 2: Tumour syndromes
Version 1.6

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Eligibility statement prior genetic testing
  • Expert list
  • UKGTN
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Cowden syndrome 1, 158350
  • Lhermitte-Duclos syndrome, 158350
  • Bannayan-Riley-Ruvalcaba syndrome, 153480
  • {Meningioma}, 607174
  • {Glioma susceptibility 2}, 613028
  • Macrocephaly/autism syndrome, 605309
  • PTEN hamartoma tumor syndrome
  • VATER association with macrocephaly and ventriculomegaly, 276950
  • {Prostate cancer, somatic}, 176807
  • Thyroid carcinoma, follicular, somatic, 188470
  • Malignant melanoma, somatic, 155600
  • Endometrial carcinoma, somatic, 608089
  • Squamous cell carcinoma, head and neck, somatic, 275355
  • Cowden Syndrome
  • Cowden Disease

Amber PTEN in Gastrointestinal epithelial barrier disorders

Level 3: Gastrointestinal disorders
Level 2: Gastroenterological disorders
Version 1.60

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • Emory Genetics Laboratory
  • Expert list
Phenotypes
  • PTEN hamartoma tumor syndrome
  • Bannayan-Riley-Ruvalcaba syndrome 153480

Green PTEN in Breast cancer pertinent cancer susceptibility

Level 3: Pertinent cancer susceptibility gene panel
Level 2: Cancer Programme
Version 1.0

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Breast cancer

Green PTEN in Colorectal cancer pertinent cancer susceptibility

Level 3: Pertinent cancer susceptibility gene panel
Level 2: Cancer Programme
Version 1.0

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Colorectal cancer

Green PTEN in Endometrial cancer pertinent cancer susceptibility

Level 3: Pertinent cancer susceptibility gene panel
Level 2: Cancer Programme
Version 1.0

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Endometrial carcinoma

Green PTEN in Renal cancer pertinent cancer susceptibility

Level 3: Pertinent cancer susceptibility gene panel
Level 2: Cancer Programme
Version 1.1

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Renal cancer

Green PTEN in Thyroid cancer pertinent cancer susceptibility

Level 3: Pertinent cancer susceptibility gene panel
Level 2: Cancer Programme
Version 1.0

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Cowden Syndrome
  • PTEN hamartoma tumor syndrome
  • Breast cancer
  • Thyroid cancer
  • Endometrial cancer

Green PTEN in Familial Tumours Syndromes of the central & peripheral Nervous system

Level 3: Muscle and nerve
Level 2: Tumour syndromes
Version 1.9

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Other
Phenotypes
  • Cowden syndrome 1, 158350
  • Lhermitte-Duclos syndrome, 158350
  • Bannayan-Riley-Ruvalcaba syndrome, 153480
  • {Meningioma}, 607174
  • {Glioma susceptibility 2}, 613028
  • Macrocephaly/autism syndrome, 605309
  • PTEN hamartoma tumor syndrome
  • VATER association with macrocephaly and ventriculomegaly, 76950
  • Prostate cancer, somatic}, 176807
  • Thyroid carcinoma, follicular, somatic, 188470
  • Malignant melanoma, somatic, 155600
  • Endometrial carcinoma, somatic, 608089
  • Squamous cell carcinoma, head and neck, somatic, 275355
  • VATER association with macrocephaly and ventriculomegaly, 276950
  • {Prostate cancer, somatic}, 176807
  • Cowden Syndrome
  • Cowden Disease

Green PTEN in Adult solid tumours for rare disease

Level 3: Tumour syndromes
Level 2: Tumour syndromes
Version 1.22

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Cowden syndrome

Green PTEN in COVID-19 research


Level 2: Viral research
Version 1.77

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • IUIS Classification February 2018
  • IUIS Classification December 2019
  • London North GLH
  • NHS GMS
  • North West GLH
  • IUIS Classification December 2019
  • North West GLH
  • London North GLH
  • NHS GMS
  • IUIS Classification February 2018
Phenotypes
  • Recurrent infections, Lymphoproliferation, Autoimmunity
  • Lymphoproliferation, Autoimmunity
  • developmental delay
  • Predominantly Antibody Deficiencies

Red PTEN in Cerebral vascular malformations

Level 3: Cerebrovascular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 2.36
Signed off v.2.2 on 2 Mar 2020

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Yorkshire and North East GLH
  • NHS GMS
  • Expert Review Red
  • UKGTN
Phenotypes
  • Bannayan-Riley-Ruvalcaba Syndrome

Amber PTEN in Gastrointestinal neuromuscular disorders

Level 3: Gastrointestinal disorders
Level 2: Gastroenterological disorders
Version 1.12

review Not set
Sources
  • Expert Review Amber
  • Expert Review
Phenotypes
  • Bannayan-Riley-Ruvalcaba syndrome 153480

Red PTEN in VACTERL-like phenotypes

Level 3: Limb disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.29

review Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Cowden syndrome 1, 158350Lhermitte-Duclos syndrome, 158350Bannayan-Riley-Ruvalcaba syndrome, 153480{Meningioma}, 607174{Glioma susceptibility 2}, 613028Macrocephaly/autism syndrome, 605309PTEN hamartoma tumor syndromeVATER association with macrocephaly and ventriculomegaly, 276950{Prostate cancer, somatic}, 176807Thyroid carcinoma, follicular, somatic, 188470Malignant melanoma, somatic, 155600Endometrial carcinoma, somatic, 608089Squamous cell carcinoma, head and neck, somatic, 275355

Green PTEN in Hydrocephalus


Version 2.99
Signed off v.2.3 on 2 Mar 2020

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • NHS GMS
  • Expert Review Green
  • Literature
Phenotypes
  • Macrocephaly/autism syndrome, OMIM:605309

Green PTEN in Segmental overgrowth disorders


Version 2.10
Signed off v.2.1 on 24 Feb 2020

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Other
  • UKGTN
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
  • Expert Review
Phenotypes
  • Bannayan-Riley-Ruvalcaba syndrome, 153480
  • BRRS
  • Bannayan-Riley-Ruvalcaba syndrome,153480
  • PHTS
  • PTEN Hamartoma Tumor Syndrome
  • Macrocephaly and Overgrowth Syndromes
  • megalencephaly
  • macrocephaly
  • Bannayan Riley Ruvalcalba Syndrome
  • Bannayan-Riley-Ruvalcaba Syndrome
  • Cowden syndrome
  • Proteus-like syndrome
  • hemihypertrophy

Red PTEN in Early onset dystonia

Level 3: Motor Disorders of the CNS
Level 2: Neurology and neurodevelopmental disorders
Version 1.86

review Not set
Sources
  • Emory Genetics Laboratory
Phenotypes
  • Dystonia

No list PTEN in White matter disorders and cerebral calcification - narrow panel


Version 1.38
Signed off v.1.12 on 2 Mar 2020

Component of the following Super Panels:

  • White matter disorders - childhood onset
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert list
    Phenotypes
    • Cowden syndrome 1, MIM# 158350

    Red PTEN in Inherited ovarian cancer (without breast cancer)

    Level 3: Breast and endocrine
    Level 2: Tumour syndromes
    Version 2.20
    Signed off v.2.2 on 4 Mar 2020

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Emory Genetics Laboratory
    Phenotypes
    • High Risk Breast Cancer
    • Breast and Ovarian Cancer

    Green PTEN in GI tract tumours

    Level 3: GI tract
    Level 2: Tumour syndromes
    Version 1.18

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • NHS GMS
    • Expert List
    • Expert Review
    • Expert Review Green
    • Emory Genetics Laboratory
    Phenotypes
    • PTEN hamartoma tumor syndrome
    • Bannayan-Riley-Ruvalcaba syndrome 153480 AD
    • Cowden syndrome 1 158350

    Green PTEN in Tumour predisposition - childhood onset

    Level 3: Childhood Tumours
    Level 2: Tumour syndromes
    Version 2.17
    Signed off v.2.5 on 4 Mar 2020

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • NHS GMS
    • Expert List
    • Expert Review Green
    • Expert list
    • UKGTN
    • Emory Genetics Laboratory
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • {Glioma susceptibility 2}, 613028
    • Macrocephaly/autism syndrome, 605309
    • VATER association with macrocephaly and ventriculomegaly, 76950
    • {Prostate cancer, somatic}, 176807
    • {Meningioma}, 607174
    • Squamous cell carcinoma, head and neck, somatic, 275355
    • Prostate cancer, somatic}, 176807
    • Cowden Disease
    • Bannayan-Riley-Ruvalcaba syndrome, 153480
    • Malignant melanoma, somatic, 155600
    • Cowden syndrome 1, 158350
    • Endometrial carcinoma, somatic, 608089
    • Cowden Syndrome
    • Thyroid carcinoma, follicular, somatic, 188470
    • Cowden syndrome
    • Lhermitte-Duclos syndrome, 158350
    • PTEN hamartoma tumor syndrome
    • VATER association with macrocephaly and ventriculomegaly, 276950

    Amber PTEN in Inherited renal cancer


    Version 1.21
    Signed off v.1.2 on 4 Mar 2020

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    • Expert List
    • UKGTN
    Phenotypes
    • Renal cell carcinoma (disease), MONDO:0005086

    Green PTEN in Inherited polyposis


    Version 1.24
    Signed off v.1.2 on 4 Mar 2020

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • NHS GMS
    • Expert List
    Phenotypes
    • Cowden syndrome 1, OMIM:158350
    • Lhermitte-Duclos syndrome, OMIM:158350
    • Cowden syndrome 1, MONDO:0008021

    Green PTEN in Pigmentary skin disorders


    Version 1.10
    Signed off v.1.4 on 15 Oct 2020

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • London North GLH
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • Bannayan-Riley-Ruvalcaba syndrome
    • COWDEN SYNDROME 1
    • Melanoma
    • Cowden syndrome
    • CWS1
    • Epidermal naevi

    Green PTEN in White matter disorders - adult onset


    Version 1.8
    Signed off v.1.6 on 15 Oct 2020

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • NHS GMS
    • Yorkshire and North East GLH

    Red PTEN in Multiple endocrine tumours

    Level 3: Breast and endocrine
    Level 2: Tumour syndromes
    Version 1.9

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Red
    • Emory Genetics Laboratory
    Phenotypes
    • Endocrine Cancer

    Red PTEN in Inherited phaeochromocytoma and paraganglioma

    Level 3: Breast and endocrine
    Level 2: Tumour syndromes
    Version 1.6

    review Not set
    Sources
    • Expert Review Red
    • Emory Genetics Laboratory

    Amber PTEN in Endocrine neoplasms


    Version 1.22
    Signed off v.1.3 on 15 Oct 2020

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Amber
    • Expert list
    Tags
    • Q2_21_phenotype
    • Q2_21_rating
    • Q2_21_NHS_review

    No list PTEN in Malformations of cortical development

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 2.44
    Signed off v.2.2 on 25 Feb 2020

    Component of the following Super Panels:

  • Cerebral malformations
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert list
    Phenotypes
    • Cowden syndrome 1 158350
    • Lhermitte-Duclos syndrome 158350
    • Macrocephaly/autism syndrome 605309

    Amber PTEN in Primary immunodeficiency


    Version 2.413
    Signed off v.2.1 on 24 Feb 2020

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • IUIS Classification December 2019
    • North West GLH
    • London North GLH
    • NHS GMS
    • Expert Review Amber
    • IUIS Classification February 2018
    Phenotypes
    • Recurrent infections, Lymphoproliferation, Autoimmunity
    • developmental delay
    • Predominantly Antibody Deficiencies
    • Lymphoproliferation, Autoimmunity

    Green PTEN in Autism


    Version 0.22

    review Not set
    Sources
    • Expert Review Green
    • SFARI
    Phenotypes
    • ID, ADHD, EPS, DD/NDD, ASD
    • Cowden syndrome, Macrocephaly/autism syndrome, PTEN hamartoma tumor syndrome

    Red PTEN in Cytopenias and congenital anaemias

    Level 3: Anaemias and red cell disorders
    Level 2: Haematological disorders
    Version 1.84

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Red
    • BRIDGE consortium (NIHRBR-RD)
    Phenotypes
    • Myelodysplastic syndrome (MDS), Adult
    • Myelodysplastic syndrome (MDS), Paediatric
    • Acute myeloid leukaemia (AML)

    Green PTEN in Mosaic skin disorders - deep sequencing


    Version 1.5
    Signed off v.1.3 on 15 Oct 2020

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • London North GLH
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • Bannayan-Riley-Ruvalcaba syndrome
    • Cowden syndrome
    • Epidermal naevi
    • Melanoma

    Amber PTEN in Vascular skin disorders


    Version 1.47
    Signed off v.1.3 on 15 Oct 2020

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Amber
    • Other
    Phenotypes
    • Cowden syndrome 1, OMIM:158350
    • capillary venous malformations

    No list PTEN in Multiple monogenic benign skin tumours


    Version 1.12
    Signed off v.1.3 on 15 Oct 2020

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Removed
    • London North GLH
    • NHS GMS
    Phenotypes
    • Epidermal naevi
    • Melanoma
    • Cowden syndrome
    • Bannayan-Riley-Ruvalcaba syndrome
    Tags
    • curated_removed

    Green PTEN in Childhood solid tumours cancer susceptibility

    Level 3: Pertinent cancer susceptibility gene panel
    Level 2: Cancer Programme
    Version 1.14

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Cowden syndrome

    Green PTEN in Adult solid tumours cancer susceptibility

    Level 3: Pertinent cancer susceptibility gene panel
    Level 2: Cancer Programme
    Version 2.9
    Signed off v.2.2 on 18 Feb 2020

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • NHS GMS
    • Expert Review Green
    • Expert list
    Phenotypes
    • Cowden syndrome

    Green PTEN in Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders

    Level 3: Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders
    Level 2: Growth disorders
    Version 1.114

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • Other
    Phenotypes
    • Overgrowth with Intellectual disability
    • Human overgrowth syndrome type

    Red PTEN in Neurodegenerative disorders - adult onset


    Version 2.174
    Signed off v.2.31 on 8 Oct 2020

    review Unknown
    Sources
    • Expert Review Red
    Phenotypes
    • Dystonia

    Red PTEN in Non-syndromic familial congenital anorectal malformations

    Level 3: Gastrointestinal disorders
    Level 2: Gastroenterological disorders
    Version 1.6

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Other
    Phenotypes
    • VACTERL ASSOCIATION WITH HYDROCEPHALUS 276950

    Red PTEN in Fetal anomalies


    Version 1.641
    Signed off v.1.92 on 21 Aug 2020

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Red
    • PAGE DD-Gene2Phenotype
    Phenotypes
    • MACROCEPHALY/AUTISM SYNDROME
    • BANNAYAN-ZONANA SYNDROME
    • PROTEUS SYNDROME
    • VACTERL ASSOCIATION WITH HYDROCEPHALUS
    • COWDEN DISEASE
    • LHERMITTE-DUCLOS DISEASE
    Tags
    • mosaicism

    Green PTEN in DDG2P


    Version 2.25
    Signed off v.2.2 on 13 Feb 2020

    Component of the following Super Panels:

  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • BANNAYAN-ZONANA SYNDROME 153480
    • COWDEN DISEASE 158350
    • MACROCEPHALY/AUTISM SYNDROME 605309
    • VACTERL ASSOCIATION WITH HYDROCEPHALUS 276950
    • PROTEUS SYNDROME 176920
    • LHERMITTE-DUCLOS DISEASE 158350
    Tags
    • mosaicism

    Amber PTEN in Hereditary neuropathy

    Level 3: Motor and Sensory Disorders of the PNS
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.384

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    • NHS GMS
    • London North GLH
    Phenotypes
    • Cowden syndrome 1, 158350
    • multifocal demyelinating motor neuropathy, macrocephaly, autism spectrum disorder and skin hamartomas

    Red PTEN in Genetic epilepsy syndromes

    Level 3: Inherited Epilepsy Syndromes
    Level 2: Neurology and neurodevelopmental disorders
    Version 2.323
    Signed off v.2.2 on 13 Feb 2020

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Red
    • Wessex and West Midlands GLH
    • NHS GMS
    • Victorian Clinical Genetics Services
    Phenotypes
    • Cowden syndrome 1 158350
    • Lhermitte-Duclos syndrome
    • BANNAYAN-RILEY-RUVALCABA SYNDROME
    Tags
    • for-review

    Green PTEN in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.1018
    Signed off v.3.2 on 13 Feb 2020

    Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Cowden syndrome 1, 158350Lhermitte-Duclos syndrome, 158350Bannayan-Riley-Ruvalcaba syndrome, 153480{Meningioma}, 607174{Glioma susceptibility 2}, 613028Macrocephaly/autism syndrome, 605309PTEN hamartoma tumor syndromeVATER association with macrocephaly and ventriculomegaly, 276950{Prostate cancer, somatic}, 176807Thyroid carcinoma, follicular, somatic, 188470Malignant melanoma, somatic, 155600Endometrial carcinoma, somatic, 608089Squamous cell carcinoma, head and neck, somatic, 275355
    • PROTEUS SYNDROME

    Red PTEN in Adult onset movement disorder


    Version 1.113
    Signed off v.1.14 on 15 Oct 2020

    review Not set
    Sources
    • NHS GMS
    • South West GLH
    • Expert Review Red
    Phenotypes
    • Cowden syndrome 1, 158350
    • Macrocephaly/autism syndrome, 605309
    • Lhermitte-Duclos syndrome, 158350
    • VATER association with macrocephaly and ventriculomegaly, 276950
    • Dystonia

    Amber PTEN in Sarcoma susceptibility


    Version 1.69
    Signed off v.1.2 on 18 Feb 2020

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Amber
    • Expert list
    Phenotypes
    • Leiomyosarcoma, MONDO:0005058

    Green PTEN in Neurological segmental overgrowth


    Version 1.15
    Signed off v.1.4 on 4 Mar 2020

    Component of the following Super Panels:

  • Cerebral malformations
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    Phenotypes
    • Cowden syndrome 1, OMIM:158350
    • Lhermitte-Duclos syndrome, OMIM:158350
    • Macrocephaly/autism syndrome, OMIM:605309

    Amber PTEN in Hereditary neuropathy NOT PMP22 copy number


    Version 1.25
    Signed off v.1.2 on 27 Feb 2020

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    • London North GLH
    • NHS GMS
    • NHS GMS
    • London North GLH
    Phenotypes
    • Cowden syndrome 1, 158350
    • multifocal demyelinating motor neuropathy, macrocephaly, autism spectrum disorder and skin hamartomas

    Red PTEN in Childhood onset dystonia or chorea or related movement disorder


    Version 1.90
    Signed off v.1.58 on 6 Oct 2020

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • South West GLH
    Phenotypes
    • Lhermitte-Duclos syndrome, 158350
    • Cowden syndrome 1, 158350
    • Macrocephaly/autism syndrome, 605309
    • VATER association with macrocephaly and ventriculomegaly, 276950

    Green PTEN in Severe Paediatric Disorders


    Version 1.75

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Macrocephaly/autism syndrome, 605309
    • Cowden syndrome 1, 158350
    • Lhermitte-Duclos syndrome, 158350