Genetic epilepsy syndromesGene: PEX19
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: 1.470
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
AR Perioxisome biogenesis disorder 12A. Mohamed et al, 2010 - female infant of consang Saudi parents with Zellweger syndrome, patient had a severe course incl refractory seizures and died aged 16 months of sepsis. Hom fs variant identified. Matsuzonon et al, 1999 hom 1 bp ins in a patient with Zellweger syndrome - no clin info listed. Possibly add...
Created: 6 Aug 2019, 8:31 p.m. | Last Modified: 6 Aug 2019, 8:31 p.m.
Panel Version: 1.188
Associated with relevant phenotype (Epilepsy (resistant to conventional anticonvulsant drugs)) in OMIM and as confirmed Gen2Phen gene. At least 2 homozygous variants reported in unrelated cases. In vitro analysis revealed absence of peroxisomes in patient's fibroblasts (PMID 20683989).
Created: 13 Aug 2018, 12:37 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Peroxisome biogenesis disorder 12A (Zellweger) 614886
Gene: pex19 has been classified as Amber List (Moderate Evidence).
Source Wessex and West Midlands GLH was added to PEX19.
Source NHS GMS was added to PEX19.
Sarah Leigh: Associated with relevant pheno
Gene: pex19 has been classified as Green List (High Evidence).
PEX19 was added to Genetic Epilepsy Syndromes panel. Sources: Literature
PEX19 was created by Sarah Leigh