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Genetic epilepsy syndromes

Gene: PEX19

Amber List (moderate evidence)

PEX19 (peroxisomal biogenesis factor 19)
EnsemblGeneIds (GRCh38): ENSG00000162735
EnsemblGeneIds (GRCh37): ENSG00000162735
OMIM: 600279, Gene2Phenotype
PEX19 is in 19 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: 1.470
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 12A. Mohamed et al, 2010 - female infant of consang Saudi parents with Zellweger syndrome, patient had a severe course incl refractory seizures and died aged 16 months of sepsis. Hom fs variant identified. Matsuzonon et al, 1999 hom 1 bp ins in a patient with Zellweger syndrome - no clin info listed. Possibly add...
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 (Epilepsy (resistant to conventional anticonvulsant drugs)) in OMIM and as confirmed Gen2Phen gene. At least 2 homozygous variants reported in unrelated cases. In vitro analysis revealed absence of peroxisomes in patient's fibroblasts (PMID 20683989).
Created: 13 Aug 2018, 12:37 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Peroxisome biogenesis disorder 12A (Zellweger) 614886

Publications

History Filter Activity

26 Nov 2019, Gel status: 2

Entity classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

Gene: pex19 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 PEX19.

6 Aug 2019, Gel status: 3

Added New Source

Rebecca Foulger (Genomics England curator)

Source NHS GMS was added to PEX19.

11 Dec 2018, Gel status: 3

Panel promoted to version 1.0

Sarah Leigh (Genomics England Curator)

Sarah Leigh: Associated with relevant pheno

13 Aug 2018, Gel status: 3

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: pex19 has been classified as Green List (High Evidence).

13 Aug 2018, Gel status: 1

Added New Source

Sarah Leigh (Genomics England Curator)

PEX19 was added to Genetic Epilepsy Syndromes panel. Sources: Literature

13 Aug 2018, Gel status: 1

Created

Sarah Leigh (Genomics England Curator)

PEX19 was created by Sarah Leigh