This Panel is marked as Internal
Peroxisomal biogenesis disorders
Gene: PEX2
PEX2 (peroxisomal biogenesis factor 2)
EnsemblGeneIds (GRCh38): ENSG00000164751
EnsemblGeneIds (GRCh37): ENSG00000164751
OMIM: 170993, Gene2Phenotype
PEX2 is in 21 panels
EnsemblGeneIds (GRCh38): ENSG00000164751
EnsemblGeneIds (GRCh37): ENSG00000164751
OMIM: 170993, Gene2Phenotype
PEX2 is in 21 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
-
- Peroxisomal disorders
- Intellectual disability
- Likely inborn error of metabolism
- Undiagnosed metabolic disorders
- Inherited white matter disorders
- Hereditary ataxia with onset in adulthood
- Fetal hydrops
- Fetal anomalies
- Adult onset leukodystrophy
- Structural eye disease
- Childhood onset dystonia, chorea or related movement disorder
- Ductal plate malformation
- DDG2P
- Bilateral congenital or childhood onset cataracts
- Retinal disorders
- Neonatal cholestasis
- White matter disorders and cerebral calcification - narrow panel
- Arthrogryposis
- Malformations of cortical development
- Cholestasis
- Early onset or syndromic epilepsy
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