Peroxisomal disorders

Gene: PEX6

Green List (high evidence)

PEX6 (peroxisomal biogenesis factor 6)
EnsemblGeneIds (GRCh38): ENSG00000124587
EnsemblGeneIds (GRCh37): ENSG00000124587
OMIM: 601498, Gene2Phenotype
PEX6 is in 21 panels

2 reviews

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with phenotype in OMIM and G2P. Numerous variants reported. 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, 7:05 a.m.
Comment on phenotypes: Variants also reported in Heimler syndrome 2 616617
Created: 24 Aug 2016, 7:02 a.m.

Ian Berry (Leeds Genetics Laboratory)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
PEROXISOME BIOGENESIS DISORDER 4B

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: 4

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for PEX6 were set to Peroxisome biogenesis disorder 4A (Zellweger) 614862; Peroxisome biogenesis disorder 4B 614863

19 Aug 2016, Gel status: 4

Added New Source

Sarah Leigh (Genomics England Curator)

PEX6 was added to Peroxisomal disorderspanel. Sources: Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services,Emory Genetics Laboratory,UKGTN,Expert list

19 Aug 2016, Gel status: 0

Created

Sarah Leigh (Genomics England Curator)

PEX6 was created by sleigh