Peroxisomal disorders
Gene: PEX2EnsemblGeneIds (GRCh38): ENSG00000164751
EnsemblGeneIds (GRCh37): ENSG00000164751
OMIM: 170993, Gene2Phenotype
PEX2 is in 21 panels
2 reviews
Sarah Leigh (Genomics England Curator)
Associated with phenotype in OMIM and G2P. At least three variants reported Peroxisome biogenesis disorder 5A (Zellweger) 614866 and five reported in Peroxisome biogenesis disorder 5B 614867. 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: 23 Aug 2016, 1:31 p.m.
Ian Berry (Leeds Genetics Laboratory)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
PEROXISOME BIOGENESIS DISORDER 5B
Publications
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Radboud University Medical Center, Nijmegen
- Illumina TruGenome Clinical Sequencing Services
- Emory Genetics Laboratory
- Expert list
- Phenotypes
-
- Peroxisome biogenesis disorder 5A (Zellweger), 614866
- Peroxisome biogenesis disorder 5B, 614867
- OMIM
- 170993
- Clinvar variants
- Variants in PEX2
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Undiagnosed metabolic disorders
- White matter disorders and cerebral calcification - narrow panel
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
- Cholestasis
- Peroxisomal disorders
- Retinal disorders
- DDG2P
- Adult onset leukodystrophy
- Inherited white matter disorders
- Fetal hydrops
- Malformations of cortical development
- Bilateral congenital or childhood onset cataracts
- Likely inborn error of metabolism
- Hereditary ataxia with onset in adulthood
- Ductal plate malformation
- Structural eye disease
- Arthrogryposis
- Early onset or syndromic epilepsy
- Neonatal cholestasis
- Fetal anomalies
History Filter Activity
panel promoted to version 1
Sarah Leigh (Genomics England Curator)Promoted to V1 3rd October 2016
Set publications
Sarah Leigh (Genomics England Curator)Publications for PEX2 were set to 23430938; 21392394; 25655951
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for PEX2 were set to Peroxisome biogenesis disorder 5A (Zellweger), 614866; Peroxisome biogenesis disorder 5B, 614867
Added New Source
Sarah Leigh (Genomics England Curator)PEX2 was added to Peroxisomal disorderspanel. Sources: Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services,Emory Genetics Laboratory,Expert list
Created
Sarah Leigh (Genomics England Curator)PEX2 was created by sleigh