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Early onset or syndromic epilepsy v1.436 PEX5 Rebecca Foulger commented on gene: PEX5: As discussed with members of the GMS Neurology Specialist Test Group on the Webex call 22nd November 2019 for Clinical Indication R59 Early onset or syndromic epilepsy: Agreed that there is insufficient evidence to rate this gene Green. Better tested through the metabolic panel. Kept rating as Amber.
Early onset or syndromic epilepsy v1.233 PEX5 Rebecca Foulger Marked gene: PEX5 as ready
Early onset or syndromic epilepsy v1.233 PEX5 Rebecca Foulger Gene: pex5 has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v1.223 PEX5 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: Agreed that this gene can remain as Amber: PEX5 is Green on the 'Inborn errors of metabolism' panel (467) so will be Green on the Epilepsy Super panel (489).; 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 that this gene can remain as Amber: PEX5 is Green on the 'Inborn errors of metabolism' panel (467) so will be Green on the Epilepsy Super panel (489).
Early onset or syndromic epilepsy v1.218 PEX5 Rebecca Foulger commented on gene: PEX5: As discussed with members of the GMS Neurology Specialist Test Group on the Webex call Thursday 8th August 2019: Agreed that this gene can remain as Amber: PEX5 is Green on the 'Inborn errors of metabolism' panel (467) so will be Green on the Epilepsy Super panel (489).
Early onset or syndromic epilepsy v1.191 PEX5 Rebecca Foulger Source Wessex and West Midlands GLH was added to PEX5.
Early onset or syndromic epilepsy v1.190 PEX5 Rebecca Foulger Source NHS GMS was added to PEX5.
Early onset or syndromic epilepsy v1.189 PEX5 Rebecca Foulger edited their review of gene: PEX5: Added comment: 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: Alison Callaway and John Taylor. Suggested gene rating: Green. ; Changed rating: AMBER
Early onset or syndromic epilepsy v1.188 PEX5 Tracy Lester reviewed gene: PEX5: Rating: GREEN; Mode of pathogenicity: ; Publications: 7719337; Phenotypes: Peroxisome biogenesis disorder 2A (Zellweger), 214110 , Peroxisome biogenesis disorder 2B, 202370, Rhizomelic chondrodysplasia punctata type 5, 616716; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.127 PEX5 Rebecca Foulger commented on gene: PEX5
Early onset or syndromic epilepsy v0.471 PEX5 Sarah Leigh Marked gene: PEX5 as ready
Early onset or syndromic epilepsy v0.471 PEX5 Sarah Leigh Gene: pex5 has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v0.471 PEX5 Sarah Leigh Tag watchlist tag was added to gene: PEX5.
Early onset or syndromic epilepsy PEX5 Sarah Leigh classified PEX5 as Amber List (moderate evidence)
Early onset or syndromic epilepsy PEX5 Sarah Leigh Added gene to panel