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Genetic epilepsy syndromes

Gene: PEX2

Amber List (moderate evidence)

PEX2 (peroxisomal biogenesis factor 2)
EnsemblGeneIds (GRCh38): ENSG00000164751
EnsemblGeneIds (GRCh37): ENSG00000164751
OMIM: 170993, Gene2Phenotype
PEX2 is in 21 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, 3:36 p.m. | Last Modified: 26 Nov 2019, 3:36 p.m.
Panel Version: 1.471
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 5A and 5B. Type 5a: Shimozwa et al, 1992 - hom nonsense variant and in 1993 identified it in a Dutch patient with Zellweger syndrome. Gootjes et al, 2004 - 3 patients with Zellweger syndrome - identified hom mutations. Shimozawa et al,1999 - functional studies on 3 reported PEX2 variants. 5b doesn't seem to be associated with an epilepsy/seizure phenotype.
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 relevant phenotype in OMIM and as confirmed Gen2Phen gene. Seizures are a major feature of this phenotype (Genomics England clinical fellow Arianna Tucci). At least 4 variants reported in at least 4 unrelated cases.
Sources: Literature
Created: 7 Nov 2018, 5:03 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Peroxisome biogenesis disorder 5A (Zellweger) 614866

Publications

History Filter Activity

26 Nov 2019, Gel status: 2

Entity classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

Gene: pex2 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 PEX2.

6 Aug 2019, Gel status: 3

Added New Source

Rebecca Foulger (Genomics England curator)

Source NHS GMS was added to PEX2.

11 Dec 2018, Gel status: 3

Panel promoted to version 1.0

Sarah Leigh (Genomics England Curator)

Sarah Leigh: Associated with relevant pheno

7 Nov 2018, Gel status: 3

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: pex2 has been classified as Green List (High Evidence).

7 Nov 2018, Gel status: 3

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: pex2 has been classified as Green List (High Evidence).

7 Nov 2018, Gel status: 1

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

Sarah Leigh (Genomics England Curator)

gene: PEX2 was added gene: PEX2 was added to Genetic Epilepsy Syndromes. Sources: Literature Mode of inheritance for gene: PEX2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PEX2 were set to 1546315; 14630978; 14630978 Phenotypes for gene: PEX2 were set to Peroxisome biogenesis disorder 5A (Zellweger) 614866 Review for gene: PEX2 was set to GREEN