Early onset or syndromic epilepsy

Gene: PEX10

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 there is insufficient evidence to rate this gene Green. Better tested through the metabolic panel. Demoted all PEX genes from Green to Amber.

Created: 25 Nov 2019, 8:57 p.m. | Last Modified: 25 Nov 2019, 8:57 p.m.

Panel Version: 1.449

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: Amber.

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

Panel Version: 1.189

I don't know

AR Perioxisome biogenesis disorder 6A and 6B. 6A: Krause et al, 2006 - Turkish male infant - rapidly progressing Zellweger syndrome features include seizures and died at 4 days old - hom nonsense variant. 6B - milder phenotype - no seizures/epilepsy.

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

Panel Version: 1.188

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Peroxisome biogenesis disorder 6A (Zellweger), 614870; Peroxisome biogenesis disorder, 614871

Publications

• 28784167

Green List (high evidence)

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

Created: 31 Oct 2018, 5:33 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Peroxisome biogenesis disorder 6A (Zellweger) 614870

Publications

• 20695019