Early onset or syndromic epilepsy
Gene: PEX6

PEX6 (peroxisomal biogenesis factor 6)
EnsemblGeneIds (GRCh38): ENSG00000124587
EnsemblGeneIds (GRCh37): ENSG00000124587
OMIM: 601498, Gene2Phenotype
PEX6 is in 23 panels

3 reviews

Rebecca Foulger (Genomics England curator)

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 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

Created: 6 Aug 2019, 8:38 p.m.
Last Modified: 6 Aug 2019, 8:38 p.m.
Panel version: 1.473

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high evidence)

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

Created: 6 Aug 2019, 8:31 p.m.
Last Modified: 6 Aug 2019, 8:31 p.m.
Panel version: 1.188

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

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

Phenotypes
Peroxisome biogenesis disorder 4A (Zellweger) 614862; Peroxisome biogenesis disorder 4B 614863

Created: 13 Aug 2018, 2:32 p.m.

Panel version: 0.324

Details

Mode of Inheritance

BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Sources

Expert Review Amber
Wessex and West Midlands GLH
NHS GMS
Literature

Phenotypes

Peroxisome biogenesis disorder 4A (Zellweger) 614862
Peroxisome biogenesis disorder 4B 614863

OMIM

601498

Clinvar variants

Variants in PEX6

Penetrance

None

Publications

Panels with this gene

History Filter Activity

26 Nov 2019, Gel status: 2

Entity classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

Gene: pex6 has been classified as Amber List (Moderate Evidence).

6 Aug 2019, Gel status: 3

Added New Source

Rebecca Foulger (Genomics England curator)

Source Wessex and West Midlands GLH was added to PEX6.

6 Aug 2019, Gel status: 3

Added New Source

Rebecca Foulger (Genomics England curator)

Source NHS GMS was added to PEX6.

11 Dec 2018, Gel status: 3