Early onset or syndromic epilepsy

Gene: PEX2

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, 3:36 p.m. | Last Modified: 26 Nov 2019, 3:36 p.m.

Panel Version: 1.471

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 5A and 5B. Type 5a: Shimozwa et al, 1992 - hom nonsense variant and in 1993 identified it in a Dutch patient with Zellweger syndrome. Gootjes et al, 2004 - 3 patients with Zellweger syndrome - identified hom mutations. Shimozawa et al,1999 - functional studies on 3 reported PEX2 variants. 5b doesn't seem to be associated with an epilepsy/seizure phenotype.

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 relevant phenotype in OMIM and as confirmed Gen2Phen gene. Seizures are a major feature of this phenotype (Genomics England clinical fellow Arianna Tucci). At least 4 variants reported in at least 4 unrelated cases.
Sources: Literature

Created: 7 Nov 2018, 5:03 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Peroxisome biogenesis disorder 5A (Zellweger) 614866

Publications

• 1546315
• 14630978
• 14630978