Activity

Filter

Cancel
Date Panel Item Activity
13 actions
Early onset or syndromic epilepsy v4.40 RHEB Arina Puzriakova changed review comment from: Comment on list classification: There is sufficient evidence to support an association with epilepsy; however, it is worth noting that variants are brain-specific somatic. Still adding to this panel as other somatic mosaic genes (e.g. GNAQ, MTOR, TSC1, TSC2) are included.; to: Comment on list classification: There is sufficient evidence to support an association with epilepsy; however, it is worth noting that variants are brain-specific somatic. Still adding to this panel as other somatic mosaic genes are included (e.g. GNAQ, MTOR, TSC1, TSC2).
Early onset or syndromic epilepsy v4.40 RHEB Arina Puzriakova changed review comment from: Comment on list classification: The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.; to: Comment on list classification: There is sufficient evidence to support an association with epilepsy; however, it is worth noting that variants are brain-specific somatic. Still adding to this panel as other somatic mosaic genes (e.g. GNAQ, MTOR, TSC1, TSC2) are included.
Early onset or syndromic epilepsy v1.191 TSC1 Rebecca Foulger Source Wessex and West Midlands GLH was added to TSC1.
Early onset or syndromic epilepsy v1.190 TSC1 Rebecca Foulger Source NHS GMS was added to TSC1.
Early onset or syndromic epilepsy v1.189 TSC1 Rebecca Foulger reviewed gene: TSC1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.188 TSC1 Tracy Lester reviewed gene: TSC1: Rating: GREEN; Mode of pathogenicity: ; Publications: 28215400; Phenotypes: Tuberous sclerosis-1, 191100; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Early onset or syndromic epilepsy v0.574 TSC1 Sarah Leigh Classified gene: TSC1 as Green List (high evidence)
Early onset or syndromic epilepsy v0.574 TSC1 Sarah Leigh Gene: tsc1 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.474 TSC1 Sarah Leigh Marked gene: TSC1 as ready
Early onset or syndromic epilepsy v0.474 TSC1 Sarah Leigh Gene: tsc1 has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy TSC1 Zornitza Stark reviewed gene: TSC1
Early onset or syndromic epilepsy TSC1 Sarah Leigh edited their review of TSC1
Early onset or syndromic epilepsy TSC1 Sarah Leigh Added gene to panel