| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| 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 v1.191 | PEX10 | Rebecca Foulger Source Wessex and West Midlands GLH was added to PEX10. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v1.190 | PEX10 | Rebecca Foulger Source NHS GMS was added to PEX10. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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 v1.188 | 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 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 |
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