Genes in panel
STRs in panel
Prev Next

Genetic epilepsy syndromes

Gene: PTEN

Red List (low evidence)

PTEN (phosphatase and tensin homolog)
EnsemblGeneIds (GRCh38): ENSG00000171862
EnsemblGeneIds (GRCh37): ENSG00000171862
OMIM: 601728, Gene2Phenotype
PTEN is in 53 panels

4 reviews

Rebecca Foulger (Genomics England curator)

I don't know

Added tags: 'mosaicism' and 'somatic'.
Created: 15 Aug 2019, 10:25 a.m. | Last Modified: 15 Aug 2019, 10:25 a.m.
Panel Version: 1.235
As discussed with members of the GMS Neurology Specialist Test Group on the Webex call Thursday 8th August 2019 for Clinical Indication R59 Early onset or syndromic epilepsy: Agreed to demote PTEN from Green to Red. This panel is not the appropriate test for somatic variant detection due to the coverage. R110 Segmental overgrowth disorders (panel #98) should be used where megalencephaly is present to allow detection of somatic mosaic mutations.
Created: 15 Aug 2019, 10:24 a.m. | Last Modified: 30 Mar 2020, 11:32 a.m.
Panel Version: 2.25
Review and rating collated by Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust, 2019_02_06) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group, for Clinical Indication R59 'Early onset or syndromic epilepsy'. Review contributors: John Taylor and Helen Lord. Suggested gene rating: Green. Technical notes: ? Appropriate pathway for testing PTEN.
Created: 6 Aug 2019, 8:38 p.m. | Last Modified: 6 Aug 2019, 8:38 p.m.
Panel Version: 1.189

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high evidence)

? Appropriate pathway for testing PTEN. AD Cowden syndrome - characterised by macrocephaly, facial trichilemmomas and increased risk of breast, thyroid and endometrial carcinoma. Seizures have been reported as a feature. Longy et al, 1998 - family A - patient 3 had seizures. No seizures/epilepsy reported in other patients/families. Adachi et al, 2018 - 1 patient had seizures as an adult. Ghusayani et al, 2018 - 11 year old boy who develped drug-resistant focal seizures on 5th day of life, MRI revealed hemimegalencephaly. Although epilepsy is not a major feature in PTEN and problematic as risk for cancer
Created: 6 Aug 2019, 8:31 p.m. | Last Modified: 6 Aug 2019, 8:31 p.m.
Panel Version: 1.188

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Cowden syndrome, 158350; Lhermitte-Duclos syndrome, 158350; Macrocephaly/autism syndrome, 605309; VATER association with macrocephaly and ventriculomegaly, 276950; {Glioma susceptibility 2}, 613028; {Meningioma}, 607174;

Publications

Eleanor Williams (Genomics England Curator)

Comment on list classification: 3 cases in which a variant in PTEN is reported in individuals with Bannayan-Riley-Ruvalcaba syndrome with clinical phenotype that includes seizures.
Created: 4 Dec 2018, 5:03 p.m.
PTEN is associated with Cowden syndrome 1/Lhermitte-Duclos syndrome in OMIM and COWDEN SYNDROME 1/LHERMITTE-DUCLOS DISEASE/COWDEN DISEASE/BANNAYAN-ZONANA SYNDROME in Gene2Phenotype.

Individuals with seizures are reported in PMID: 9832032 (Longy et al 1998) - a heterozygous deletion in exon 6, 1390deIG, PMID: 29033429 (Adachi et al 2018) - heterozygous deletion in exon 5 (c.486delC) and PMID:29444762 (Ghusayni et al 2018) - c.510 T>G PTEN mutation. All are reported to have Bannayan-Riley-Ruvalcaba syndrome which is an alternative name for Cowden syndrome 1 in OMIM.
Created: 4 Dec 2018, 5:02 p.m.

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Cowden and BRRS are germline PTEN-related conditions and can present with macrocephaly/neurodevelopmental phenotype in childhood, including ID/autism and sometimes seizures as outlined in the previous reviews. The associated cancer risk makes the condition important to diagnose.

There are also somatic PTEN-related conditions such as Proteus, but these are not under consideration for this panel. One of the reviews below refers to AKT1, which is confusing.
Created: 25 Jan 2020, 1:50 a.m. | Last Modified: 25 Jan 2020, 1:50 a.m.
Panel Version: 2.0
Seizures are part of the phenotype of PTEN-related neurodevelopmental disorders.
Created: 20 Aug 2018, 1:43 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Cowden syndrome 1, MIM#158350

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

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Victorian Clinical Genetics Services
Phenotypes
  • Cowden syndrome 1 158350
  • Lhermitte-Duclos syndrome
  • BANNAYAN-RILEY-RUVALCABA SYNDROME
Tags
mosaicism somatic
OMIM
601728
Clinvar variants
Variants in PTEN
Penetrance
None
Publications
Panels with this gene

History Filter Activity

15 Aug 2019, Gel status: 1

Entity classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

Gene: pten has been classified as Red List (Low Evidence).

15 Aug 2019, Gel status: 1

Entity classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

Gene: pten has been classified as Red List (Low Evidence).

15 Aug 2019, Gel status: 3

Added Tag, Added Tag

Rebecca Foulger (Genomics England curator)

Tag mosaicism tag was added to gene: PTEN. Tag somatic tag was added to gene: PTEN.

6 Aug 2019, Gel status: 3

Added New Source

Rebecca Foulger (Genomics England curator)

Source Wessex and West Midlands GLH was added to PTEN.

6 Aug 2019, Gel status: 3

Added New Source

Rebecca Foulger (Genomics England curator)

Source NHS GMS was added to PTEN.

11 Dec 2018, Gel status: 3

Panel promoted to version 1.0

Sarah Leigh (Genomics England Curator)

Zornitza Stark: Seizures are part of the pheno

4 Dec 2018, Gel status: 3

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Phenotypes for gene: PTEN were changed from to Cowden syndrome 1 158350; Lhermitte-Duclos syndrome; BANNAYAN-RILEY-RUVALCABA SYNDROME

4 Dec 2018, Gel status: 3

Entity classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

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

4 Dec 2018, Gel status: 3

Set mode of inheritance

Eleanor Williams (Genomics England Curator)

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

4 Dec 2018, Gel status: 3

Set publications

Eleanor Williams (Genomics England Curator)

Publications for gene: PTEN were set to

4 Dec 2018, Gel status: 3

Entity classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

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

25 Jun 2018, Gel status: 2

Added New Source

Sarah Leigh (Genomics England Curator)

Expert Review Amber was added to PTEN. Panel: Genetic Epilepsy Syndromes

25 Jun 2018, Gel status: 1

Added New Source

Sarah Leigh (Genomics England Curator)

PTEN was added to Genetic Epilepsy Syndromes panel. Sources: Victorian Clinical Genetics Services

25 Jun 2018, Gel status: 1

Created

Sarah Leigh (Genomics England Curator)

PTEN was created by Sarah Leigh