1. Genes and Genomic Entities
  2. PTEN

PTEN

phosphatase and tensin homolog
OMIM: 601728, Gene2Phenotype

54 panels

Panel Reviews Mode of inheritance Details
54 panels
Green PTEN in Familial breast cancer

Level 3: Breast and endocrine
Level 2: Tumour syndromes
Version 1.28

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 1.4

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Other
Phenotypes
  • harmartoma, glioma, prostate, endometrial
  • Cowden syndrome, Bannayan-Riley-Ruvalcaba syndrome
Amber PTEN in Infantile enterocolitis & monogenic inflammatory bowel disease

Level 3: Gastrointestinal disorders
Level 2: Gastroenterological disorders
Version 1.45

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • 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 1.25

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 1.8

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 1.11

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 1.76

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
Amber PTEN in Breast cancer pertinent cancer susceptibility


Level 2: Cancer susceptibility
Version 2.16
Latest signed off version: v2.0 (22 Mar 2023)

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Expert list
Phenotypes
  • Breast cancer
Tags
  • Q2_25_ promote_green
  • Q2_25_expert_review
Green PTEN in Colorectal 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
  • Colorectal cancer
Green PTEN in Endometrial 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
  • Endometrial carcinoma
Green PTEN in Renal cancer pertinent cancer susceptibility

Level 3: Pertinent cancer susceptibility gene panel
Level 2: Cancer Programme
Version 1.3

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 1.4

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 1.15

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 1.42

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 1.146

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 2: Neurology
Version 4.10
Latest signed off version: v4.0 (30 Apr 2025)

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 1.30

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 1.35

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


Level 2: Neurology
Version 5.8
Latest signed off version: v5.0 (7 Aug 2024)

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 - Deep sequencing


Level 2: Dermatology
Version 4.5
Latest signed off version: v4.0 (30 Apr 2025)

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 1.152

review Not set
Sources
  • Emory Genetics Laboratory
Phenotypes
  • Dystonia
Green PTEN in White matter disorders and cerebral calcification - narrow panel


Level 2: Neurology
Version 7.13
Latest signed off version: v7.0 (30 Apr 2025)

Component of the following Super Panels:

  • Childhood onset leukodystrophy

    		•  review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • NHS GMS
    • Expert list
    Phenotypes
    • Cowden syndrome 1, OMIM:158350
    Red PTEN in Inherited ovarian cancer (without breast cancer)


    Level 2: Inherited cancer
    Version 4.9
    Latest signed off version: v4.0 (22 Mar 2023)

    		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 1.27

    		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 Childhood solid tumours


    Level 2: Cancer susceptibility
    Version 5.9
    Latest signed off version: v5.0 (30 Apr 2025)

    		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


    Level 2: Inherited cancer
    Version 1.28
    Latest signed off version: v1.2 (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 and early onset colorectal cancer - germline testing


    Level 2: Inherited cancer
    Version 3.11
    Latest signed off version: v3.0 (7 Aug 2024)

    		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


    Level 2: Dermatology
    Version 4.13
    Latest signed off version: v4.0 (30 Apr 2025)

    		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 Adult onset leukodystrophy


    Level 2: Neurology
    Version 6.8
    Latest signed off version: v6.0 (30 Apr 2025)

    		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 1.15

    		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 1.12

    		review Not set
    Sources
    • Expert Review Red
    • Emory Genetics Laboratory
    Amber PTEN in Endocrine neoplasia


    Level 2: Endocrinology
    Version 3.4
    Latest signed off version: v3.0 (22 Mar 2023)

    		review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Amber
    • Expert list
    Green PTEN in Malformations of cortical development


    Level 2: Neurology
    Version 7.30
    Latest signed off version: v7.0 (30 Oct 2024)

    Component of the following Super Panels:

  • Cerebral malformation

    		•  review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • NHS GMS
    • Expert Review Green
    • Expert list
    Phenotypes
    • Cowden syndrome 1 OMIM:158350
    • Lhermitte-Duclos syndrome OMIM:158350
    • Cowden syndrome 1 MONDO:0008021
    • Macrocephaly/autism syndrome OMIM:605309
    • macrocephaly-autism syndrome MONDO:0011537
    Amber PTEN in Primary immunodeficiency or monogenic inflammatory bowel disease


    Level 2: Immunology
    Version 8.78
    Latest signed off version: v8.0 (30 Apr 2025)

    		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
    Red PTEN in Cytopenias and congenital anaemias

    Level 3: Anaemias and red cell disorders
    Level 2: Haematological disorders
    Version 1.123

    		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


    Level 2: Dermatology
    Version 3.27
    Latest signed off version: v3.0 (30 Apr 2025)

    		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


    Level 2: Dermatology
    Version 2.5
    Latest signed off version: v2.0 (30 Apr 2025)

    		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


    Level 2: Dermatology
    Version 2.5
    Latest signed off version: v2.0 (30 Nov 2022)

    		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 1.30

    		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 2: Cancer susceptibility
    Version 2.35
    Latest signed off version: v2.2 (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 1.121

    		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 Adult onset neurodegenerative disorder


    Level 2: Neurology
    Version 8.11
    Latest signed off version: v8.0 (30 Apr 2025)

    		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 1.14

    		review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Other
    Phenotypes
    • VACTERL ASSOCIATION WITH HYDROCEPHALUS 276950
    Green PTEN in Fetal anomalies


    Level 2: Fetal (including NIPD)
    Version 6.140
    Latest signed off version: v6.0 (30 Apr 2025)

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • NHS GMS
    • Expert Review Green
    • PAGE DD-Gene2Phenotype
    Phenotypes
    • Cowden syndrome 1, OMIM:158350
    Tags
    • mosaicism
    Green PTEN in DDG2P


    Version 6.424
    Latest signed off version: v6.0 (30 Apr 2025)

    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 1.506

    		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
    Green PTEN in Early onset or syndromic epilepsy


    Level 2: Neurology
    Version 8.125
    Latest signed off version: v8.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Paediatric disorders
  • Unexplained death in infancy and sudden unexplained death in childhood

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


    Level 2: Developmental disorders
    Version 9.285
    Latest signed off version: v9.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders

    		•  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 dystonia, chorea or related movement disorder


    Level 2: Neurology
    Version 5.3
    Latest signed off version: v5.0 (30 Apr 2025)

    		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


    Level 2: Cancer susceptibility
    Version 1.82
    Latest signed off version: v1.2 (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


    Level 2: Neurology
    Version 3.3
    Latest signed off version: v3.0 (30 Oct 2024)

    Component of the following Super Panels:

  • Cerebral malformation

    		•  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 or pain disorder


    Level 2: Neurology
    Version 7.36
    Latest signed off version: v7.0 (30 Apr 2025)

    		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, chorea or related movement disorder


    Level 2: Neurology
    Version 7.13
    Latest signed off version: v7.0 (30 Apr 2025)

    		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 PTEN Hamartoma Tumour Syndrome


    Level 2: Inherited cancer
    Version 1.5
    Latest signed off version: v1.2 (30 Apr 2025)

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • Cowden syndrome 1, OMIM:158350
    • Lhermitte-Duclos disease, OMIM:158350
    • PTEN harmartoma tumor syndrome with immune disorder, MONDO:0700330