Peroxisomal biogenesis disorders

Gene: PEX2

Green List (high evidence)

PEX2 (peroxisomal biogenesis factor 2)
EnsemblGeneIds (GRCh38): ENSG00000164751
EnsemblGeneIds (GRCh37): ENSG00000164751
OMIM: 170993, Gene2Phenotype
PEX2 is in 22 panels

1 review

Sarah Leigh (Genomics England Curator)

Gene rated green and diagnostic-grade by expert reviewer. Associated with phenotype in OMIM and G2P. At least six variants reported in three cases. 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, 10:39 a.m.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Emory Genetics Laboratory
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Peroxisome biogenesis disorder 5A (Zellweger), 614866
  • Peroxisome biogenesis disorder 5B, 614867
  • Zellweger Syndrome
  • Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum, PEX2-related
  • Peroxisomal biogenesis disorders
OMIM
170993
Clinvar variants
Variants in PEX2
Penetrance
Complete
Panels with this gene

History Filter Activity

7 Aug 2015, Gel status: 3

Added New Source

Eik Haraldsdottir (Genomics England)

PEX2 was added to Peroxisomal biogenesis disorderspanel. Sources: Expert list

7 Aug 2015, Gel status: 3

Added New Source

Eik Haraldsdottir (Genomics England)

PEX2 was added to Peroxisomal biogenesis disorderspanel. Sources: Emory Genetics Laboratory

7 Aug 2015, Gel status: 2

Set Mode of Inheritance

Eik Haraldsdottir (Genomics England)

Model of inheritance for gene PEX2 was changed to BIALLELIC, autosomal or pseudoautosomal

7 Aug 2015, Gel status: 2

Added New Source

Eik Haraldsdottir (Genomics England)

PEX2 was added to Peroxisomal biogenesis disorderspanel. Sources: Illumina TruGenome Clinical Sequencing Services

7 Aug 2015, Gel status: 1

Added New Source

Eik Haraldsdottir (Genomics England)

PEX2 was added to Peroxisomal biogenesis disorderspanel. Sources: Radboud University Medical Center, Nijmegen