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Early onset or syndromic epilepsy v1.453 PEX7 Rebecca Foulger Classified gene: PEX7 as Amber List (moderate evidence)
Early onset or syndromic epilepsy v1.453 PEX7 Rebecca Foulger Gene: pex7 has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v1.452 PEX7 Rebecca Foulger commented on gene: PEX7: 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 from Green to Amber.
Early onset or syndromic epilepsy v1.191 PEX7 Rebecca Foulger Source Wessex and West Midlands GLH was added to PEX7.
Early onset or syndromic epilepsy v1.190 PEX7 Rebecca Foulger Source NHS GMS was added to PEX7.
Early onset or syndromic epilepsy v1.189 PEX7 Rebecca Foulger reviewed gene: PEX7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.188 PEX7 Tracy Lester reviewed gene: PEX7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v0.602 PEX7 Sarah Leigh Marked gene: PEX7 as ready
Early onset or syndromic epilepsy v0.602 PEX7 Sarah Leigh Added comment: Comment when marking as ready: Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene. Seizures are a part of the spectrum of features in this phenotype (Genomics England clinical fellow Arianna Tucci).At least 6 variants reported in at least 7 cases.
Early onset or syndromic epilepsy v0.602 PEX7 Sarah Leigh Gene: pex7 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.601 PEX7 Sarah Leigh Publications for gene: PEX7 were set to
Early onset or syndromic epilepsy v0.600 PEX7 Sarah Leigh Phenotypes for gene: PEX7 were changed from to Rhizomelic chondrodysplasia punctata, type 1 215100
Early onset or syndromic epilepsy v0.599 PEX7 Sarah Leigh Mode of inheritance for gene: PEX7 was changed from to BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.598 PEX7 Sarah Leigh Classified gene: PEX7 as Green List (high evidence)
Early onset or syndromic epilepsy v0.598 PEX7 Sarah Leigh Gene: pex7 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy PEX7 Zornitza Stark reviewed gene: PEX7
Early onset or syndromic epilepsy PEX7 Sarah Leigh Added gene to panel