Inherited white matter disorders
Gene: PEX26EnsemblGeneIds (GRCh38): ENSG00000215193
EnsemblGeneIds (GRCh37): ENSG00000215193
OMIM: 608666, Gene2Phenotype
PEX26 is in 19 panels
2 reviews
Sarah Leigh (Genomics England Curator)
Gene rated green and diagnostic-grade by expert reviewer. Associated with phenotype in OMIM and G2P. At least five variants reported for Peroxisome biogenesis disorder 7A (Zellweger) 614872 and four for Peroxisome biogenesis disorder 7B 614873. On the Minimum recommended gene list for broad spectrum genetic testing for single-nucleotide variants associated with leukodystrophies and genetic leukoencephalopathies reported in PMID: 25655951Created: 24 Aug 2016, 10:52 a.m.
Ian Berry (Leeds Genetics Laboratory)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
General Leukodystrophy & Mitochondrial Leukoencephalopathy
Publications
- Parikh et al. Molecular Genetics and Metabolism 114 (2015) 501_645
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- UKGTN
- Emory Genetics Laboratory
- Illumina TruGenome Clinical Sequencing Services
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- Peroxisome-Associated Disorders & Zellweger Syndrome
- OMIM
- 608666
- Clinvar variants
- Variants in PEX26
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Peroxisomal disorders
- Likely inborn error of metabolism
- Undiagnosed metabolic disorders
- Intellectual disability
- Inherited white matter disorders
- Fetal hydrops
- Adult onset leukodystrophy
- Structural eye disease
- Fetal anomalies
- Childhood onset dystonia, chorea or related movement disorder
- Ductal plate malformation
- Amelogenesis imperfecta
- DDG2P
- Bilateral congenital or childhood onset cataracts
- Neonatal cholestasis
- White matter disorders and cerebral calcification - narrow panel
- Arthrogryposis
- Malformations of cortical development
- Cholestasis
History Filter Activity
panel promoted to version 1
Ellen McDonagh (Genomics England Curator)6th Oct 2016: Panel promoted to version 1 after expert review and input, further curation and clinical input.
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set publications
Sarah Leigh (Genomics England Curator)Publications for PEX26 were set to 25655951
Upload gene information
Sarah Leigh (Genomics England Curator)PEX26 was added to Inherited white matter disorderspanel. Sources: Emory Genetics Laboratory,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Added New Source
Ian Berry (Leeds Genetics Laboratory)PEX26 was added to Inherited white matter disorderspanel. Sources: Expert list
Created
Ian Berry (Leeds Genetics Laboratory)PEX26 was created by [email protected]