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.

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