25 Nov 2019
Early onset or syndromic epilepsy v1.453
PEX7
Rebecca Foulger Classified gene: PEX7 as Amber List (moderate evidence)
25 Nov 2019
Early onset or syndromic epilepsy v1.453
PEX7
Rebecca Foulger Gene: pex7 has been classified as Amber List (Moderate Evidence).
25 Nov 2019
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.
06 Aug 2019
Early onset or syndromic epilepsy v1.191
PEX7
Rebecca Foulger Source Wessex and West Midlands GLH was added to PEX7.
06 Aug 2019
Early onset or syndromic epilepsy v1.190
PEX7
Rebecca Foulger Source NHS GMS was added to PEX7.
06 Aug 2019
Early onset or syndromic epilepsy v1.189
PEX7
Rebecca Foulger reviewed gene: PEX7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
06 Aug 2019
Early onset or syndromic epilepsy v1.188
PEX7
Tracy Lester reviewed gene: PEX7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
07 Nov 2018
Early onset or syndromic epilepsy v0.602
PEX7
Sarah Leigh Marked gene: PEX7 as ready
07 Nov 2018
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.
07 Nov 2018
Early onset or syndromic epilepsy v0.602
PEX7
Sarah Leigh Gene: pex7 has been classified as Green List (High Evidence).
07 Nov 2018
Early onset or syndromic epilepsy v0.601
PEX7
Sarah Leigh Publications for gene: PEX7 were set to
07 Nov 2018
Early onset or syndromic epilepsy v0.600
PEX7
Sarah Leigh Phenotypes for gene: PEX7 were changed from to Rhizomelic chondrodysplasia punctata, type 1 215100
07 Nov 2018
Early onset or syndromic epilepsy v0.599
PEX7
Sarah Leigh Mode of inheritance for gene: PEX7 was changed from to BIALLELIC, autosomal or pseudoautosomal
07 Nov 2018
Early onset or syndromic epilepsy v0.598
PEX7
Sarah Leigh Classified gene: PEX7 as Green List (high evidence)
07 Nov 2018
Early onset or syndromic epilepsy v0.598
PEX7
Sarah Leigh Gene: pex7 has been classified as Green List (High Evidence).
18 Aug 2018
Early onset or syndromic epilepsy
PEX7
Zornitza Stark reviewed gene: PEX7
25 Jun 2018
Early onset or syndromic epilepsy
PEX7
Sarah Leigh Added gene to panel