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Early onset or syndromic epilepsy v1.436 GTPBP3 Rebecca Foulger changed review comment from: 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. Kept rating as Amber.; to: 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 v1.436 GTPBP3 Rebecca Foulger commented on gene: GTPBP3: 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. Kept rating as Amber.
Early onset or syndromic epilepsy v1.233 GTPBP3 Rebecca Foulger Marked gene: GTPBP3 as ready
Early onset or syndromic epilepsy v1.233 GTPBP3 Rebecca Foulger Gene: gtpbp3 has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v1.217 GTPBP3 Rebecca Foulger commented on gene: GTPBP3: 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: GTPBP3 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 GTPBP3 Rebecca Foulger Source Wessex and West Midlands GLH was added to GTPBP3.
Early onset or syndromic epilepsy v1.190 GTPBP3 Rebecca Foulger Source NHS GMS was added to GTPBP3.
Early onset or syndromic epilepsy v1.189 GTPBP3 Rebecca Foulger reviewed gene: GTPBP3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.188 GTPBP3 Tracy Lester reviewed gene: GTPBP3: Rating: GREEN; Mode of pathogenicity: ; Publications: 25434004; Phenotypes: Combined oxidative phosphorylation deficiency 23, 616198; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.1293 GTPBP3 Ivone Leong Marked gene: GTPBP3 as ready
Early onset or syndromic epilepsy v0.1293 GTPBP3 Ivone Leong Added comment: Comment when marking as ready: GTPBP3 remains an amber gene as there are only 2 reported cases of epilepsy for this gene. I have put the 'watchlist' tag on so that if new cases appear this gene will be updated accordingly.
Early onset or syndromic epilepsy v0.1293 GTPBP3 Ivone Leong Gene: gtpbp3 has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v0.1293 GTPBP3 Ivone Leong Tag watchlist tag was added to gene: GTPBP3.
Early onset or syndromic epilepsy v0.817 GTPBP3 Ivone Leong Publications for gene: GTPBP3 were set to
Early onset or syndromic epilepsy v0.816 GTPBP3 Ivone Leong Mode of inheritance for gene: GTPBP3 was changed from to BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.814 GTPBP3 Ivone Leong Phenotypes for gene: GTPBP3 were changed from to Combined oxidative phosphorylation deficiency 23, 616198
Early onset or syndromic epilepsy v0.812 GTPBP3 Ivone Leong Marked gene: GTPBP3 as ready
Early onset or syndromic epilepsy v0.812 GTPBP3 Ivone Leong Added comment: Comment when marking as ready: Associated with 'mitochondrial translation defect associated with hypertrophic cardiomyopathy, lactic acidosis, and encephalopathy' in Gene2phenotype. Only 2 unrelated families have been reported to have seizures.
Early onset or syndromic epilepsy v0.812 GTPBP3 Ivone Leong Gene: gtpbp3 has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy GTPBP3 Zornitza Stark reviewed gene: GTPBP3
Early onset or syndromic epilepsy GTPBP3 Sarah Leigh Added gene to panel