PTEN

Green PTEN in Familial breast cancer

Level 3: Breast and endocrine
Level 2: Tumour syndromes
Version 1.18

Sources

• Expert Review Green
• Emory Genetics Laboratory

Phenotypes

• High Risk Breast Cancer
• Breast and Ovarian Cancer

Red PTEN in Familial prostate cancer

Version 1.3

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 1.39

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 1.18

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

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

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 1.73

Sources

• Expert Review Amber
• Emory Genetics Laboratory
• Expert list

Phenotypes

• PTEN hamartoma tumor syndrome
• Bannayan-Riley-Ruvalcaba syndrome 153480

Red PTEN in Breast cancer pertinent cancer susceptibility

Level 3: Pertinent cancer susceptibility gene panel
Level 2: Cancer Programme
Version 1.6
Latest signed off version: v1.1 (29 Sep 2021)

Sources

• Expert Review Red
• 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

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

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

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 1.3

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 1.12

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 1.33

Sources

• Expert Review Green
• Expert list

Phenotypes

• Cowden syndrome

Green PTEN in COVID-19 research

Level 2: Viral research
Version 1.130

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 2.59
Latest signed off version: v2.2 (2 Mar 2020)

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 1.21

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 1.32

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 2.131
Latest signed off version: v2.3 (2 Mar 2020)

Sources

• NHS GMS
• Expert Review Green
• Literature

Phenotypes

• Macrocephaly/autism syndrome, OMIM:605309

Green PTEN in Segmental overgrowth disorders

Version 2.16
Latest signed off version: v2.1 (24 Feb 2020)

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 1.117

Sources

• Emory Genetics Laboratory

Phenotypes

• Dystonia

Amber PTEN in White matter disorders and cerebral calcification - narrow panel

Version 1.240
Latest signed off version: v1.12 (2 Mar 2020)

Component of the following Super Panels:

Sources

• Expert Review Amber
• Expert list

Phenotypes

• Cowden syndrome 1, OMIM:158350

Tags

• Q3_21_rating

Red PTEN in Inherited ovarian cancer (without breast cancer)

Level 3: Breast and endocrine
Level 2: Tumour syndromes
Version 2.28
Latest signed off version: v2.2 (4 Mar 2020)

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 1.22

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 2.33
Latest signed off version: v2.5 (4 Mar 2020)

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
Latest signed off version: v1.2 (4 Mar 2020)

Sources

• Expert Review Amber
• Expert List
• UKGTN

Phenotypes

• Renal cell carcinoma (disease), MONDO:0005086

Green PTEN in Inherited polyposis

Version 1.32
Latest signed off version: v1.2 (4 Mar 2020)

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 1.50
Latest signed off version: v1.4 (15 Oct 2020)

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 1.43
Latest signed off version: v1.25 (5 Aug 2021)

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 1.13

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 1.9

Sources

• Expert Review Red
• Emory Genetics Laboratory

Amber PTEN in Endocrine neoplasms

Version 1.25
Latest signed off version: v1.3 (15 Oct 2020)

Sources

• Expert Review Amber
• Expert list

Tags

• Q2_21_rating
• Q2_21_phenotype
• Q2_21_NHS_review

Amber PTEN in Malformations of cortical development

Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 2.148
Latest signed off version: v2.2 (25 Feb 2020)

Component of the following Super Panels:

Sources

• Expert Review Amber
• 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

Tags

• Q4_21_rating

Amber PTEN in Primary immunodeficiency

Version 2.572
Latest signed off version: v2.1 (24 Feb 2020)

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

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 1.106

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 1.22
Latest signed off version: v1.3 (15 Oct 2020)

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 1.49
Latest signed off version: v1.3 (15 Oct 2020)

Sources

• Expert Review Amber
• Other

Phenotypes

• Cowden syndrome 1, OMIM:158350
• capillary venous malformations

No list PTEN in Multiple monogenic benign skin tumours

Version 1.20
Latest signed off version: v1.3 (15 Oct 2020)

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 1.20

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 2.21
Latest signed off version: v2.2 (18 Feb 2020)

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 1.119

Sources

• Expert Review Green
• Other

Phenotypes

• Overgrowth with Intellectual disability
• Human overgrowth syndrome type

Red PTEN in Neurodegenerative disorders - adult onset

Version 2.275
Latest signed off version: v2.178 (5 Aug 2021)

Sources

• Expert Review Red

Phenotypes

• Dystonia

Red PTEN in Non-syndromic familial congenital anorectal malformations

Level 3: Gastrointestinal disorders
Level 2: Gastroenterological disorders
Version 1.8

Sources

• Other

Phenotypes

• VACTERL ASSOCIATION WITH HYDROCEPHALUS 276950

Red PTEN in Fetal anomalies

Version 1.880
Latest signed off version: v1.92 (21 Aug 2020)

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 2.76
Latest signed off version: v2.2 (13 Feb 2020)

Component of the following Super Panels:

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 1.454

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 Genetic epilepsy syndromes

Level 3: Inherited Epilepsy Syndromes
Level 2: Neurology and neurodevelopmental disorders
Version 2.558
Latest signed off version: v2.2 (13 Feb 2020)

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 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 3.1651
Latest signed off version: v3.2 (13 Feb 2020)

Component of the following Super Panels:

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 1.170
Latest signed off version: v1.121 (5 Aug 2021)

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 1.72
Latest signed off version: v1.2 (18 Feb 2020)

Sources

• NHS GMS
• Expert Review Amber
• Expert list

Phenotypes

• Leiomyosarcoma, MONDO:0005058

Green PTEN in Neurological segmental overgrowth

Version 1.15
Latest signed off version: v1.4 (4 Mar 2020)

Component of the following Super Panels:

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 1.103
Latest signed off version: v1.36 (5 Aug 2021)

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 1.240
Latest signed off version: v1.137 (5 Aug 2021)

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 1.127

Sources

• Next Generation Children Project
• Expert Review Green
• Expert list

Phenotypes

• Macrocephaly/autism syndrome, 605309
• Cowden syndrome 1, 158350
• Lhermitte-Duclos syndrome, 158350