Early onset or syndromic epilepsy

Gene: PEX13

I don't know

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.

Created: 26 Nov 2019, 3:35 p.m. | Last Modified: 26 Nov 2019, 3:35 p.m.

Panel Version: 1.469

Review and rating collated by Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust, 2019_02_06) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group, for Clinical Indication R59 'Early onset or syndromic epilepsy'. Review contributors: John Taylor and Helen Lord. Suggested gene rating: Green.

Created: 6 Aug 2019, 8:38 p.m. | Last Modified: 6 Aug 2019, 8:38 p.m.

Panel Version: 1.189

Green List (high evidence)

AR Perioxisome biogenesis disorder 11A and 11B. 11A - Al Dirbashi et al, 2009 - studied 2 unrelated Saudi patients - children of consang parents with Zellweger syndrome - both children had seizures alongside other features of Zellweger and died young. One patient had a hom deletion encompassing entire PEX3 gene and the other had a hom smaller out of frame del. Shimozawa et al - patient with severe Zellweger phenotype - hom nonsense variant. 11B - milder manifestion of type 11A.

Created: 6 Aug 2019, 8:31 p.m. | Last Modified: 6 Aug 2019, 8:31 p.m.

Panel Version: 1.188

Green List (high evidence)

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

Created: 31 Oct 2018, 5:03 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Peroxisome biogenesis disorder 11A (Zellweger) 614883

Publications

• 10332040
• 19449432