Inherited white matter disorders

Gene: PEX5

Green List (high evidence)

PEX5 (peroxisomal biogenesis factor 5)
EnsemblGeneIds (GRCh38): ENSG00000139197
EnsemblGeneIds (GRCh37): ENSG00000139197
OMIM: 600414, Gene2Phenotype
PEX5 is in 19 panels

2 reviews

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Gene rated green and diagnostic-grade by expert reviewer. Associated with phenotype in OMIM and G2P. At least five variants reported across the three phenotypes. Not on the Minimum recommended gene list for broad spectrum genetic testing for single-nucleotide variants associated with leukodystrophies and genetic leukoencephalopathies reported in PMID: 25655951.
Created: 24 Aug 2016, 12:06 p.m.
Comment on phenotypes: Also associated with Rhizomelic chondrodysplasia punctata, type 5 616716
Created: 24 Aug 2016, 11:58 a.m.

Ian Berry (Leeds Genetics Laboratory)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
General Leukodystrophy & Mitochondrial Leukoencephalopathy

Publications

  • Parikh et al. Molecular Genetics and Metabolism 114 (2015) 501_649

Variants in this GENE are reported as part of current diagnostic practice

History Filter Activity

6 Oct 2016, Gel status: 4

panel promoted to version 1

Ellen McDonagh (Genomics England Curator)

6th Oct 2016: Panel promoted to version 1 after expert review and input, further curation and clinical input.

24 Aug 2016, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

24 Aug 2016, Gel status: 0

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been removed from the panel.

24 Aug 2016, Gel status: 0

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for PEX5 were set to Peroxisome biogenesis disorder 2A (Zellweger) 214110; Peroxisome biogenesis disorder 2B 202370

24 Aug 2016, Gel status: 0

Set publications

Sarah Leigh (Genomics England Curator)

Publications for PEX5 were set to 26220973; 27290639

4 Aug 2016, Gel status: 0

Created

Ian Berry (Leeds Genetics Laboratory)

PEX5 was created by [email protected]

4 Aug 2016, Gel status: 0

Added New Source

Ian Berry (Leeds Genetics Laboratory)

PEX5 was added to Inherited white matter disorderspanel. Sources: Expert list