Familial Tumours Syndromes of the central & peripheral Nervous system

Gene: PTEN

Green List (high evidence)

PTEN (phosphatase and tensin homolog)
EnsemblGeneIds (GRCh38): ENSG00000171862
EnsemblGeneIds (GRCh37): ENSG00000171862
OMIM: 601728, Gene2Phenotype
PTEN is in 55 panels

0 reviews

Details

Mode of Inheritance
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
OMIM
601728
Clinvar variants
Variants in PTEN
Penetrance
None
Panels with this gene

History Filter Activity

16 Jul 2018, Gel status: 3

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Gene: pten has been classified as Green List (High Evidence).

16 Jul 2018, Gel status: 1

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: PTEN were set to 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

16 Jul 2018, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

PTEN was added to Familial Tumours Syndromes of the central & peripheral Nervous system panel. Sources: Other

16 Jul 2018, Gel status: 1

Created

Louise Daugherty (Genomics England Curator)

PTEN was created by Louise Daugherty