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Genetic epilepsy syndromes

Gene: PEX5

Amber List (moderate evidence)

PEX5 (peroxisomal biogenesis factor 5)
EnsemblGeneIds (GRCh38): ENSG00000139197
EnsemblGeneIds (GRCh37): ENSG00000139197
OMIM: 600414, Gene2Phenotype
PEX5 is in 20 panels

3 reviews

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high evidence)

PEX gene (including PEX5) pathogenic variants are associated with Zellwegger spectrum disorders, which includes neonatal seizures as a symptom (Zellwegger spectrum disorders Genereviews, revised 2017)
Created: 6 Aug 2019, 8:31 p.m. | Last Modified: 6 Aug 2019, 8:31 p.m.
Panel Version: 1.188

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Peroxisome biogenesis disorder 2A (Zellweger), 214110 ; Peroxisome biogenesis disorder 2B, 202370; Rhizomelic chondrodysplasia punctata type 5, 616716

Publications

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 there is insufficient evidence to rate this gene Green. Better tested through the metabolic panel. Kept rating as Amber.
Created: 25 Nov 2019, 8:43 p.m. | Last Modified: 25 Nov 2019, 8:43 p.m.
Panel Version: 1.436
As discussed with members of the GMS Neurology Specialist Test Group on the Webex call Thursday 8th August 2019 for Clinical Indication R59 Early onset or syndromic epilepsy: Agreed that this gene can remain as Amber: PEX5 is Green on the 'Inborn errors of metabolism' panel (467) so will be Green on the Epilepsy Super panel (489).
Created: 13 Aug 2019, 4:22 p.m. | Last Modified: 15 Aug 2019, 8:07 a.m.
Panel Version: 1.223
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: Alison Callaway and John Taylor. 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
PMID:26220973. Baroy et al., 2015 identify a homozygous frameshift variant (p.Val242Glyfs(∗)33) in PEX5 in 4 patients from 2 Pakistani families with rhizomelic chondrodysplasia punctata. In the first family, 2 siblings report seizures and the middle sibling died in association with non-convulsive status epilepticus and pneumonia. Seizures were not reported in the single female from family B. The variant was not present in ExAC. Sanger sequencing confirmed the three siblings were homozygous for the c.722dupA variant and both parents were heterozygous.
Created: 4 Jul 2019, 2:29 p.m. | Last Modified: 4 Jul 2019, 2:29 p.m.
Panel Version: 1.127

Sarah Leigh (Genomics England Curator)

I don't know

Comment on phenotypes: Each phenotype lists seizures as a clinical feature.
Created: 13 Aug 2018, 1:46 p.m.
Comment on list classification: Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene. At least one variant reported in each of the phenotypes listed.
Created: 13 Aug 2018, 1:45 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Peroxisome biogenesis disorder 2A (Zellweger) 214110; Peroxisome biogenesis disorder 2B 202370; Rhizomelic chondrodysplasia punctata, type 5 616716

History Filter Activity

15 Aug 2019, Gel status: 2

Entity classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

Gene: pex5 has been classified as Amber List (Moderate Evidence).

6 Aug 2019, Gel status: 2

Added New Source

Rebecca Foulger (Genomics England curator)

Source Wessex and West Midlands GLH was added to PEX5.

6 Aug 2019, Gel status: 2

Added New Source

Rebecca Foulger (Genomics England curator)

Source NHS GMS was added to PEX5.

11 Dec 2018, Gel status: 2

Panel promoted to version 1.0

Sarah Leigh (Genomics England Curator)

Sarah Leigh: Comment on list classification

26 Sep 2018, Gel status: 2

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: pex5 has been classified as Amber List (Moderate Evidence).

26 Sep 2018, Gel status: 2

Added Tag

Sarah Leigh (Genomics England Curator)

Tag watchlist tag was added to gene: PEX5.

13 Aug 2018, Gel status: 2

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: PEX5 were set to 7719337; 26220973

13 Aug 2018, Gel status: 2

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: PEX5 were set to Peroxisome biogenesis disorder 2A (Zellweger) 214110; Peroxisome biogenesis disorder 2B 202370; Rhizomelic chondrodysplasia punctata, type 5 616716

13 Aug 2018, Gel status: 2

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: pex5 has been classified as Amber List (Moderate Evidence).

13 Aug 2018, Gel status: 1

Added New Source

Sarah Leigh (Genomics England Curator)

PEX5 was added to Genetic Epilepsy Syndromes panel. Sources: Literature

13 Aug 2018, Gel status: 1

Created

Sarah Leigh (Genomics England Curator)

PEX5 was created by Sarah Leigh