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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 AKT1 Rebecca Foulger Marked gene: AKT1 as ready
Early onset or syndromic epilepsy v1.236 AKT1 Rebecca Foulger Gene: akt1 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 AKT1 Rebecca Foulger Classified gene: AKT1 as Red List (low evidence)
Early onset or syndromic epilepsy v1.234 AKT1 Rebecca Foulger Gene: akt1 has been classified as Red List (Low Evidence).
Early onset or syndromic epilepsy v1.233 AKT1 Rebecca Foulger commented on gene: AKT1: 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 v1.191 AKT1 Rebecca Foulger Source Wessex and West Midlands GLH was added to AKT1.
Early onset or syndromic epilepsy v1.190 AKT1 Rebecca Foulger Source NHS GMS was added to AKT1.
Early onset or syndromic epilepsy v1.189 AKT1 Rebecca Foulger reviewed gene: AKT1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.188 AKT1 Tracy Lester reviewed gene: AKT1: Rating: RED; Mode of pathogenicity: ; Publications: 25722288; Phenotypes: Breast cancer, somatic, 114480, Colorectal cancer, somatic, 114500, Cowden syndrome, 615109, Ovarian cancer, somatic, 167000, Proteus syndrome, somatic 176920, {Schizophrenia, susceptibility to} 181500; Mode of inheritance:
Early onset or syndromic epilepsy v0.497 AKT1 Sarah Leigh Phenotypes for gene: AKT1 were changed from to Proteus syndrome, somatic 176920
Early onset or syndromic epilepsy v0.496 AKT1 Sarah Leigh Publications for gene: AKT1 were set to 23992099; 21793738
Early onset or syndromic epilepsy v0.495 AKT1 Sarah Leigh Mode of pathogenicity for gene: AKT1 was changed from None to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Early onset or syndromic epilepsy v0.494 AKT1 Sarah Leigh Added comment: Comment on mode of inheritance: Somatic mosaicism
Early onset or syndromic epilepsy v0.494 AKT1 Sarah Leigh Mode of inheritance for gene: AKT1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Early onset or syndromic epilepsy v0.493 AKT1 Sarah Leigh Classified gene: AKT1 as Green List (high evidence)
Early onset or syndromic epilepsy v0.493 AKT1 Sarah Leigh Gene: akt1 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.479 AKT1 Sarah Leigh Added comment: Comment on mode of pathogenicity: somatic mosaic activating variants
Early onset or syndromic epilepsy v0.479 AKT1 Sarah Leigh Mode of pathogenicity for gene: AKT1 was changed from None to None
Early onset or syndromic epilepsy v0.478 AKT1 Sarah Leigh Publications for gene: AKT1 were set to 23992099
Early onset or syndromic epilepsy AKT1 Zornitza Stark reviewed gene: AKT1
Early onset or syndromic epilepsy AKT1 Arianna Tucci reviewed gene: AKT1
Early onset or syndromic epilepsy AKT1 Sarah Leigh Added gene to panel