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Genetic epilepsy syndromes

Gene: PEX13

Amber List (moderate evidence)

PEX13 (peroxisomal biogenesis factor 13)
EnsemblGeneIds (GRCh38): ENSG00000162928
EnsemblGeneIds (GRCh37): ENSG00000162928
OMIM: 601789, Gene2Phenotype
PEX13 is in 18 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, 3:35 p.m. | Last Modified: 26 Nov 2019, 3:35 p.m.
Panel Version: 1.469
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

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high evidence)

AR Perioxisome biogenesis disorder 11A and 11B. 11A - Al Dirbashi et al, 2009 - studied 2 unrelated Saudi patients - children of consang parents with Zellweger syndrome - both children had seizures alongside other features of Zellweger and died young. One patient had a hom deletion encompassing entire PEX3 gene and the other had a hom smaller out of frame del. Shimozawa et al - patient with severe Zellweger phenotype - hom nonsense variant. 11B - milder manifestion of type 11A.
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)

Associated with phenotypes in OMIM and as confirmed Gen2Phen gene. At least 3 variants reported in Peroxisome biogenesis disorder 11A (Zellweger) 614883. Seizures are a major feature of this phenotype (clinical fellow Arianna Tucci).
Sources: Literature
Created: 31 Oct 2018, 5:03 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Peroxisome biogenesis disorder 11A (Zellweger) 614883

Publications

History Filter Activity

26 Nov 2019, Gel status: 2

Entity classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

Gene: pex13 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 PEX13.

6 Aug 2019, Gel status: 3

Added New Source

Rebecca Foulger (Genomics England curator)

Source NHS GMS was added to PEX13.

11 Dec 2018, Gel status: 3

Panel promoted to version 1.0

Sarah Leigh (Genomics England Curator)

Sarah Leigh: Associated with phenotypes in

31 Oct 2018, Gel status: 3

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: pex13 has been classified as Green List (High Evidence).

31 Oct 2018, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Sarah Leigh (Genomics England Curator)

gene: PEX13 was added gene: PEX13 was added to Genetic Epilepsy Syndromes. Sources: Literature Mode of inheritance for gene: PEX13 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PEX13 were set to 10332040; 19449432 Phenotypes for gene: PEX13 were set to Peroxisome biogenesis disorder 11A (Zellweger) 614883 Review for gene: PEX13 was set to GREEN