Peroxisomal 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)

Red List (low evidence)

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.
Associated with phenotype in OMIM and G2P. At least five variants reported across the three phenotypes
Created: 23 Aug 2016, 2:27 p.m.
Comment on publications: PEX5 is not mentioned in PMID 25655951
Created: 23 Aug 2016, 2:25 p.m.

Ian Berry (Leeds Genetics Laboratory)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
PEROXISOME BIOGENESIS DISORDER 2B

Publications

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

History Filter Activity

3 Oct 2016, Gel status: 4

panel promoted to version 1

Sarah Leigh (Genomics England Curator)

Promoted to V1 3rd October 2016

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: 3

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: 3

Set publications

Sarah Leigh (Genomics England Curator)

Publications for PEX5 were set to 26220973; 27290639

23 Aug 2016, Gel status: 3

Set publications

Sarah Leigh (Genomics England Curator)

Publications for PEX5 were set to 26220973; 27290639; 26220973

23 Aug 2016, Gel status: 3

Set publications

Sarah Leigh (Genomics England Curator)

Publications for PEX5 were set to 26220973; 27290639

19 Aug 2016, Gel status: 3

Added New Source

Sarah Leigh (Genomics England Curator)

PEX5 was added to Peroxisomal disorderspanel. Sources: Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services,Emory Genetics Laboratory

19 Aug 2016, Gel status: 0

Created

Sarah Leigh (Genomics England Curator)

PEX5 was created by sleigh