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Early onset or syndromic epilepsy v2.491 PTEN Sarah Leigh Tag for-review was removed from gene: PTEN.
Early onset or syndromic epilepsy v2.491 PTEN Sarah Leigh commented on gene: PTEN: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Early onset or syndromic epilepsy v2.490 PTEN Sarah Leigh Source Expert Review Green was added to PTEN.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Early onset or syndromic epilepsy v2.113 PTEN Sarah Leigh reviewed gene: PTEN: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Early onset or syndromic epilepsy v2.113 PTEN Sarah Leigh Tag mosaicism was removed from gene: PTEN.
Tag somatic was removed from gene: PTEN.
Tag for-review tag was added to gene: PTEN.
Early onset or syndromic epilepsy v2.25 PTEN Rebecca Foulger changed review comment from: 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 AKT1 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.; to: 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.
Early onset or syndromic epilepsy v2.0 PTEN Zornitza Stark commented on gene: PTEN: 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.
Early onset or syndromic epilepsy v1.236 PTEN Rebecca Foulger Marked gene: PTEN as ready
Early onset or syndromic epilepsy v1.236 PTEN Rebecca Foulger Gene: pten has been classified as Red List (Low Evidence).
Early onset or syndromic epilepsy v1.235 PTEN Rebecca Foulger commented on gene: PTEN: Added tags: 'mosaicism' and 'somatic'.
Early onset or syndromic epilepsy v1.235 PTEN Rebecca Foulger Classified gene: PTEN as Red List (low evidence)
Early onset or syndromic epilepsy v1.235 PTEN Rebecca Foulger Gene: pten has been classified as Red List (Low Evidence).
Early onset or syndromic epilepsy v1.234 PTEN Rebecca Foulger commented on gene: PTEN: 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 AKT1 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.
Early onset or syndromic epilepsy v1.234 PTEN Rebecca Foulger Tag mosaicism tag was added to gene: PTEN.
Tag somatic tag was added to gene: PTEN.
Early onset or syndromic epilepsy v1.191 PTEN Rebecca Foulger Source Wessex and West Midlands GLH was added to PTEN.
Early onset or syndromic epilepsy v1.190 PTEN Rebecca Foulger Source NHS GMS was added to PTEN.
Early onset or syndromic epilepsy v1.189 PTEN Rebecca Foulger reviewed gene: PTEN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.188 PTEN Tracy Lester reviewed gene: PTEN: Rating: GREEN; Mode of pathogenicity: ; Publications: 11726927, 12085208, 11726926 ; 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, ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.1376 PTEN Eleanor Williams Phenotypes for gene: PTEN were changed from to Cowden syndrome 1 158350; Lhermitte-Duclos syndrome; BANNAYAN-RILEY-RUVALCABA SYNDROME
Early onset or syndromic epilepsy v0.1375 PTEN Eleanor Williams Marked gene: PTEN as ready
Early onset or syndromic epilepsy v0.1375 PTEN Eleanor Williams Gene: pten has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.1375 PTEN Eleanor Williams Mode of inheritance for gene: PTEN was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Early onset or syndromic epilepsy v0.1374 PTEN Eleanor Williams Publications for gene: PTEN were set to
Early onset or syndromic epilepsy v0.1373 PTEN Eleanor Williams Classified gene: PTEN as Green List (high evidence)
Early onset or syndromic epilepsy v0.1373 PTEN Eleanor Williams Added comment: 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.
Early onset or syndromic epilepsy v0.1373 PTEN Eleanor Williams Gene: pten has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.1371 PTEN Eleanor Williams commented on gene: PTEN
Early onset or syndromic epilepsy PTEN Zornitza Stark reviewed gene: PTEN
Early onset or syndromic epilepsy PTEN Sarah Leigh Added gene to panel