Genodermatoses with malignancies

Gene: PTEN

Green List (high evidence)

PTEN (phosphatase and tensin homolog)
EnsemblGeneIds (GRCh38): ENSG00000171862
EnsemblGeneIds (GRCh37): ENSG00000171862
OMIM: 601728, Gene2Phenotype
PTEN is in 50 panels

1 review

Ajith Kumar (Great Ormond Street Hospital)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
macrocephaly; learning difficulties; lipomas; vascular malformations; genital freckling; skin tags; fibrocystic breast disease, goitre; breast cancer; non-medullary thyroid cancer; hamartomas; bowel polyps; bowel cancer; uterine cancer

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
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
OMIM
601728
Clinvar variants
Variants in PTEN
Penetrance
Complete
Panels with this gene

History Filter Activity

15 Feb 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen Thomas (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

15 Feb 2016, Gel status: 3

Set Mode of Inheritance

Ellen Thomas (Genomics England Curator)

Mode of inheritance for PTEN was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

27 Aug 2015, Gel status: 3

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene PTEN was set to Unknown

27 Aug 2015, Gel status: 3

Added New Source

Ellen McDonagh (Genomics England Curator)

PTEN was added to Genodermatoses with malignanciespanel. Source: Eligibility statement prior genetic testing

27 Aug 2015, Gel status: 3

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene PTEN was set to Unknown

27 Aug 2015, Gel status: 3

Added New Source

Ellen McDonagh (Genomics England Curator)

PTEN was added to Genodermatoses with malignanciespanel. Source: Expert list

27 Aug 2015, Gel status: 3

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene PTEN was set to Unknown

27 Aug 2015, Gel status: 3

Added New Source

Ellen McDonagh (Genomics England Curator)

PTEN was added to Genodermatoses with malignanciespanel. Source: UKGTN

27 Aug 2015, Gel status: 3

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene PTEN was set to Unknown

27 Aug 2015, Gel status: 3

Added New Source

Ellen McDonagh (Genomics England Curator)

PTEN was added to Genodermatoses with malignanciespanel. Source: Emory Genetics Laboratory

27 Aug 2015, Gel status: 3

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene PTEN was set to Unknown

27 Aug 2015, Gel status: 3

Added New Source

Ellen McDonagh (Genomics England Curator)

PTEN was added to Genodermatoses with malignanciespanel. Source: Radboud University Medical Center, Nijmegen

17 Aug 2015, Gel status: 3

Added New Source

Ellen McDonagh (Genomics England Curator)

PTEN was added to Genodermatoses with malignanciespanel. Sources: Eligibility statement prior genetic testing

17 Aug 2015, Gel status: 3

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene PTEN was changed to Unknown

17 Aug 2015, Gel status: 3

Added New Source

Ellen McDonagh (Genomics England Curator)

PTEN was added to Genodermatoses with malignanciespanel. Sources: Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,UKGTN,Expert list

17 Aug 2015, Gel status: 3

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene PTEN was changed to Unknown

17 Aug 2015, Gel status: 3

Added New Source

Ellen McDonagh (Genomics England Curator)

PTEN was added to Genodermatoses with malignanciespanel. Sources: Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,UKGTN,Expert list

17 Aug 2015, Gel status: 2

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene PTEN was changed to Unknown

17 Aug 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

PTEN was added to Genodermatoses with malignanciespanel. Sources: Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,UKGTN,Expert list

17 Aug 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

PTEN was added to Genodermatoses with malignanciespanel. Sources: Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,UKGTN,Expert list