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Early onset or syndromic epilepsy v1.471 PEX19 Rebecca Foulger Classified gene: PEX19 as Amber List (moderate evidence)
Early onset or syndromic epilepsy v1.471 PEX19 Rebecca Foulger Gene: pex19 has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v1.470 PEX19 Rebecca Foulger commented on gene: PEX19: 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 PEX genes are better tested through the metabolic panel, and should be demoted to Amber.
Early onset or syndromic epilepsy v1.470 PEX13 Rebecca Foulger Classified gene: PEX13 as Amber List (moderate evidence)
Early onset or syndromic epilepsy v1.470 PEX13 Rebecca Foulger Gene: pex13 has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v1.469 PEX13 Rebecca Foulger commented on gene: PEX13: 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 PEX genes are better tested through the metabolic panel, and should be demoted to Amber.
Early onset or syndromic epilepsy v1.452 PEX12 Rebecca Foulger Classified gene: PEX12 as Amber List (moderate evidence)
Early onset or syndromic epilepsy v1.452 PEX12 Rebecca Foulger Gene: pex12 has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v1.451 PEX12 Rebecca Foulger commented on gene: PEX12: 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. Demoted all PEX genes from Green to Amber.
Early onset or syndromic epilepsy v1.451 PEX10 Rebecca Foulger Publications for gene: PEX10 were set to 20695019
Early onset or syndromic epilepsy v1.450 PEX10 Rebecca Foulger Classified gene: PEX10 as Amber List (moderate evidence)
Early onset or syndromic epilepsy v1.450 PEX10 Rebecca Foulger Gene: pex10 has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v1.449 PEX10 Rebecca Foulger commented on gene: PEX10: 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. Demoted all PEX genes from Green to Amber.
Early onset or syndromic epilepsy v1.449 PEX1 Rebecca Foulger Classified gene: PEX1 as Amber List (moderate evidence)
Early onset or syndromic epilepsy v1.449 PEX1 Rebecca Foulger Gene: pex1 has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v1.448 PEX1 Rebecca Foulger commented on gene: PEX1: 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. Demoted all PEX genes from Green to Amber.
Early onset or syndromic epilepsy v1.418 PEX1 Rebecca Foulger commented on gene: PEX1: PMID:16141001 (Rosewich et al 2005) studied 33 patients with PEX1 variants. Seizures are a feature in Table 3 for 6 patients.
Early onset or syndromic epilepsy v1.418 PEX1 Rebecca Foulger Publications for gene: PEX1 were set to 12402331; 26387595; 9398847
Early onset or syndromic epilepsy v1.417 PEX1 Rebecca Foulger commented on gene: PEX1: PMID:15098231 (Poll-The BT et al 2004) surveyed 31 patients with a generalized peroxisomal disorder from 27 families. 7/31 patients (23%) developed seizures from 0 - 2.7 years. Most patients (60-70%) had variants in the PEX1 gene. Most frequent variants include G843D and frameshift c.2097insT.
Early onset or syndromic epilepsy v1.417 PEX1 Rebecca Foulger commented on gene: PEX1: PMID:15301838 (Michelakakis et al, 2004) decribe a female patient of healthy unrelated patients. Her diagnosis of Leber congenital amaurosis was subsequently demonstrated to be a PEX1 defect. Myoclonic seizures began age 2. The patient is heterozygous for G843D variant and an additional second variant that is not yet identified.
Early onset or syndromic epilepsy v1.417 PEX1 Rebecca Foulger commented on gene: PEX1: PMID:28432012 (Ge et al., 2017) report 2 Chinese newborns with Zellweger phenotypes and compound het variants in PEX1 (Arg577Thrfs*15 and Asn830Thrfx*61). Although the authors note that seizures are in the clinical spectrum of ZS patients, seizures were not reported for the Chinese newborns.
Early onset or syndromic epilepsy v1.417 PEX1 Rebecca Foulger commented on gene: PEX1: PMID:21844578 (Cho et al., 2011) report a Korean patient who was compound het for variants in the PEX1 gene (p.H678QfsX3 and p.R949W) inherited from the parents. He had typical features of ZS including seizures (starting 4 days old), dysmorphic face and a poor suck.
Early onset or syndromic epilepsy v1.191 PEX19 Rebecca Foulger Source Wessex and West Midlands GLH was added to PEX19.
Early onset or syndromic epilepsy v1.191 PEX13 Rebecca Foulger Source Wessex and West Midlands GLH was added to PEX13.
Early onset or syndromic epilepsy v1.191 PEX12 Rebecca Foulger Source Wessex and West Midlands GLH was added to PEX12.
Early onset or syndromic epilepsy v1.191 PEX10 Rebecca Foulger Source Wessex and West Midlands GLH was added to PEX10.
Early onset or syndromic epilepsy v1.191 PEX1 Rebecca Foulger Source Wessex and West Midlands GLH was added to PEX1.
Early onset or syndromic epilepsy v1.190 PEX19 Rebecca Foulger Source NHS GMS was added to PEX19.
Early onset or syndromic epilepsy v1.190 PEX13 Rebecca Foulger Source NHS GMS was added to PEX13.
Early onset or syndromic epilepsy v1.190 PEX12 Rebecca Foulger Source NHS GMS was added to PEX12.
Early onset or syndromic epilepsy v1.190 PEX10 Rebecca Foulger Source NHS GMS was added to PEX10.
Early onset or syndromic epilepsy v1.190 PEX1 Rebecca Foulger Source NHS GMS was added to PEX1.
Early onset or syndromic epilepsy v1.189 PEX19 Rebecca Foulger reviewed gene: PEX19: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 PEX13 Rebecca Foulger reviewed gene: PEX13: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 PEX12 Rebecca Foulger reviewed gene: PEX12: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 PEX10 Rebecca Foulger reviewed gene: PEX10: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 PEX1 Rebecca Foulger reviewed gene: PEX1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.188 PEX19 Tracy Lester reviewed gene: PEX19: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.188 PEX13 Tracy Lester reviewed gene: PEX13: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.188 PEX12 Tracy Lester reviewed gene: PEX12: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.188 PEX10 Tracy Lester reviewed gene: PEX10: Rating: AMBER; Mode of pathogenicity: ; Publications: 28784167; Phenotypes: Peroxisome biogenesis disorder 6A (Zellweger), 614870, Peroxisome biogenesis disorder, 614871; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.188 PEX1 Tracy Lester reviewed gene: PEX1: Rating: AMBER; Mode of pathogenicity: ; Publications: 16141001; Phenotypes: Heimler syndrome 1 234580, Peroxisome biogenesis disorder 1A (Zellweger) 214100, Peroxisome biogenesis disorder 1B (NALD/IRD) 601539; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.595 PEX1 Sarah Leigh Marked gene: PEX1 as ready
Early onset or syndromic epilepsy v0.595 PEX1 Sarah Leigh Added comment: Comment when marking as ready: Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene for Adrenoleukodystrophy. Seizures are a major feature of this phenotype (Genomics England clinical fellow Arianna Tucci). At least 5 variants reported in numerous unrelated cases.
Early onset or syndromic epilepsy v0.595 PEX1 Sarah Leigh Gene: pex1 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.595 PEX1 Sarah Leigh Mode of inheritance for gene: PEX1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.594 PEX1 Sarah Leigh Publications for gene: PEX1 were set to
Early onset or syndromic epilepsy v0.593 PEX1 Sarah Leigh Added comment: Comment on phenotypes: Adrenoleukodystrophy from Gen2Phen
Early onset or syndromic epilepsy v0.593 PEX1 Sarah Leigh Phenotypes for gene: PEX1 were changed from Peroxisome biogenesis disorder 1A (Zellweger) 214100; Peroxisome biogenesis disorder 1B (NALD/IRD) 601539 to Peroxisome biogenesis disorder 1A (Zellweger) 214100; Peroxisome biogenesis disorder 1B (NALD/IRD) 601539; Adrenoleukodystrophy
Early onset or syndromic epilepsy v0.592 PEX1 Sarah Leigh Classified gene: PEX1 as Green List (high evidence)
Early onset or syndromic epilepsy v0.592 PEX1 Sarah Leigh Gene: pex1 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.515 PEX10 Sarah Leigh Classified gene: PEX10 as Green List (high evidence)
Early onset or syndromic epilepsy v0.515 PEX10 Sarah Leigh Gene: pex10 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.514 PEX10 Sarah Leigh gene: PEX10 was added
gene: PEX10 was added to Genetic Epilepsy Syndromes. Sources: Literature
Mode of inheritance for gene: PEX10 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PEX10 were set to 20695019
Phenotypes for gene: PEX10 were set to Peroxisome biogenesis disorder 6A (Zellweger) 614870
Review for gene: PEX10 was set to GREEN
Added comment: Associated with phenotypes in OMIM and confirmed in Gen2Phen. At least 4 variants in Peroxisome biogenesis disorder 6A (Zellweger) 614870 in at least 2 cases which includes hepatomegaly (according to Gen2Phen). Seizures are a major feature of this phenotype (clinical fellow Arianna Tucci).
Sources: Literature
Early onset or syndromic epilepsy v0.513 PEX13 Sarah Leigh Classified gene: PEX13 as Green List (high evidence)
Early onset or syndromic epilepsy v0.513 PEX13 Sarah Leigh Gene: pex13 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.512 PEX13 Sarah Leigh gene: PEX13 was added
gene: PEX13 was added to Genetic Epilepsy Syndromes. Sources: Literature
Mode of inheritance for gene: PEX13 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PEX13 were set to 10332040; 19449432
Phenotypes for gene: PEX13 were set to Peroxisome biogenesis disorder 11A (Zellweger) 614883
Review for gene: PEX13 was set to GREEN
Added comment: Associated with phenotypes in OMIM and as confirmed Gen2Phen gene. At least 3 variants reported in Peroxisome biogenesis disorder 11A (Zellweger) 614883. Seizures are a major feature of this phenotype (clinical fellow Arianna Tucci).
Sources: Literature
Early onset or syndromic epilepsy PEX1 Zornitza Stark reviewed gene: PEX1
Early onset or syndromic epilepsy PEX19 Sarah Leigh classified PEX19 as Green List (high evidence)
Early onset or syndromic epilepsy PEX12 Sarah Leigh marked gene: PEX12 as ready
Early onset or syndromic epilepsy PEX12 Sarah Leigh classified PEX12 as Green List (high evidence)
Early onset or syndromic epilepsy PEX1 Sarah Leigh Added gene to panel