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Genetic epilepsy syndromes

Gene: PEX3

Amber List (moderate evidence)

PEX3 (peroxisomal biogenesis factor 3)
EnsemblGeneIds (GRCh38): ENSG00000034693
EnsemblGeneIds (GRCh37): ENSG00000034693
OMIM: 603164, Gene2Phenotype
PEX3 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, 3:36 p.m. | Last Modified: 26 Nov 2019, 3:36 p.m.
Panel Version: 1.472
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 10A and 10B. 10A: Muntau et al, 2000 - 2 unrelated patients with Zellweger syndrome - in both seizures developed very early in life - 2 diff hom mutations in the PEX3 gene. Bjorgo et l, 2017 - whole exome seq of adults with ID revealed a hom splicing variant in PEX3 thought to be milder pheno as the transcript is still producing a protein with residual activity. 10B: Maxit et al, 9 year old boy had had 23 isolated seizure-like episodes amongst other features. compound het PEX3 mutations, carried by unaff parents. No functional studies. Patient cells showed a mosaic pattern of catalase pos particles and peroxisomal membrane structures - consistent with a milder pheno.
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. At least 3 homozygous variants reported in three unrelated cases.
Created: 13 Aug 2018, 1:26 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Peroxisome biogenesis disorder 10A (Zellweger) 614882

Publications

History Filter Activity

26 Nov 2019, Gel status: 2

Entity classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

Gene: pex3 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 PEX3.

6 Aug 2019, Gel status: 3

Added New Source

Rebecca Foulger (Genomics England curator)

Source NHS GMS was added to PEX3.

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: pex3 has been classified as Green List (High Evidence).

13 Aug 2018, Gel status: 1

Added New Source

Sarah Leigh (Genomics England Curator)

PEX3 was added to Genetic Epilepsy Syndromes panel. Sources: Literature

13 Aug 2018, Gel status: 1

Created

Sarah Leigh (Genomics England Curator)

PEX3 was created by Sarah Leigh