Early onset or syndromic epilepsy

Gene: PEX7

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 from Green to Amber.

Created: 25 Nov 2019, 8:59 p.m. | Last Modified: 25 Nov 2019, 8:59 p.m.

Panel Version: 1.452

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 9B and Rhizomleic chondroplasia punctata type 1. PBD9B - milder phenotype with long survival less neurologic involvement, normal or near growth and absence of rhizomelia. RCDP1 - characterised by disprop short stature primarily affecting the proximal parts of the extremities and other features. Most die in first decade of life - can't see any mention in the clinical features section on OMIM of seizures/epilepsy.

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

Panel Version: 1.188

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.

Created: 7 Nov 2018, 5:07 p.m.

I don't know

Seizures are part of the phenotype of this metabolic disorder.

Created: 18 Aug 2018, 10:32 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Peroxisome biogenesis disorder 9B, MIM#614879

Variants in this GENE are reported as part of current diagnostic practice