Genetic epilepsy syndromesGene: PEX3
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: 1.472
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 10A and 10B. 10A: Muntau et al, 2000 - 2 unrelated patients with Zellweger syndrome - in both seizures developed very early in life - 2 diff hom mutations in the PEX3 gene. Bjorgo et l, 2017 - whole exome seq of adults with ID revealed a hom splicing variant in PEX3 thought to be milder pheno as the transcript is still producing a protein with residual activity. 10B: Maxit et al, 9 year old boy had had 23 isolated seizure-like episodes amongst other features. compound het PEX3 mutations, carried by unaff parents. No functional studies. Patient cells showed a mosaic pattern of catalase pos particles and peroxisomal membrane structures - consistent with a milder pheno.
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 in OMIM and as confirmed Gen2Phen gene. At least 3 homozygous variants reported in three unrelated cases.
Created: 13 Aug 2018, 1:26 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Peroxisome biogenesis disorder 10A (Zellweger) 614882
Gene: pex3 has been classified as Amber List (Moderate Evidence).
Source Wessex and West Midlands GLH was added to PEX3.
Source NHS GMS was added to PEX3.
Sarah Leigh: Associated with relevant pheno
Gene: pex3 has been classified as Green List (High Evidence).
PEX3 was added to Genetic Epilepsy Syndromes panel. Sources: Literature
PEX3 was created by Sarah Leigh