Genetic epilepsy syndromesGene: PEX6
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, 3:37 p.m. | Last Modified: 26 Nov 2019, 3:37 p.m.
Panel Version: 1.473
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 4A, AD and AR 4B and Heimler syndrome 2. 4A - Fukuda et al, 1996 - Japanese girl - non consang parents - clonic seizures in the neonatal period - death at 7 months - PEX6 variants identifed. 4B milder manifestation of Zellweger syndrome - no mention of seizures in any of the patients described on OMIM - functional studies on the R860W variant undertaken. Heimler syndrome 2 - mildest end of the sprectrum with sensorineural hearing loss, enamel hypoplasia of the secondary dentition and nail abnormalities - seizures not a feature.
Created: 6 Aug 2019, 8:31 p.m. | Last Modified: 6 Aug 2019, 8:31 p.m.
Panel Version: 1.188
Comment on phenotypes: Variants also reported in Heimler syndrome 2 616617, but this phenotype dose not include seizures.
Created: 13 Aug 2018, 2:34 p.m.
Associated with relevant phenotypes in OMIM and as confirmed Gen2Phen gene. At least 6 variants reported in Peroxisome biogenesis disorder 4A (Zellweger) 614862, in at least 6 unrelated cases.
Created: 13 Aug 2018, 2:32 p.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Peroxisome biogenesis disorder 4A (Zellweger) 614862; Peroxisome biogenesis disorder 4B 614863
Gene: pex6 has been classified as Amber List (Moderate Evidence).
Source Wessex and West Midlands GLH was added to PEX6.
Source NHS GMS was added to PEX6.
Sarah Leigh: Associated with relevant pheno
Publications for gene: PEX6 were set to 8670792; 8940266; 10408779
Phenotypes for gene: PEX6 were set to Peroxisome biogenesis disorder 4A (Zellweger) 614862; Peroxisome biogenesis disorder 4B 614863
Gene: pex6 has been classified as Green List (High Evidence).
PEX6 was added to Genetic Epilepsy Syndromes panel. Sources: Literature
PEX6 was created by Sarah Leigh