Peroxisomal biogenesis disorders
Gene: PEX26EnsemblGeneIds (GRCh38): ENSG00000215193
EnsemblGeneIds (GRCh37): ENSG00000215193
OMIM: 608666, Gene2Phenotype
PEX26 is in 19 panels
1 review
Sarah Leigh (Genomics England Curator)
Comment when marking as ready: Gene rated green and diagnostic-grade by expert reviewer on Inherited White Matter disorder panel. Associated with phenotype in OMIM and G2P. Numerous variants reported. 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, 10:44 a.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert list
- UKGTN
- Emory Genetics Laboratory
- Illumina TruGenome Clinical Sequencing Services
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- Peroxisome biogenesis disorder 7A (Zellweger) 614872
- Peroxisome biogenesis disorder 7B 614873
- OMIM
- 608666
- Clinvar variants
- Variants in PEX26
- Penetrance
- Complete
- Panels with this gene
-
- Malformations of cortical development
- Peroxisomal disorders
- Likely inborn error of metabolism
- Cholestasis
- Undiagnosed metabolic disorders
- White matter disorders and cerebral calcification - narrow panel
- Inherited white matter disorders
- Amelogenesis imperfecta
- Fetal hydrops
- Structural eye disease
- Adult onset leukodystrophy
- Ductal plate malformation
- DDG2P
- Bilateral congenital or childhood onset cataracts
- Fetal anomalies
- Childhood onset dystonia, chorea or related movement disorder
- Neonatal cholestasis
- Arthrogryposis
- Intellectual disability
History Filter Activity
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for PEX26 were set to Peroxisome biogenesis disorder 7A (Zellweger) 614872; Peroxisome biogenesis disorder 7B 614873
Added New Source
Eik Haraldsdottir (Genomics England)PEX26 was added to Peroxisomal biogenesis disorderspanel. Sources: Expert list
Added New Source
Eik Haraldsdottir (Genomics England)PEX26 was added to Peroxisomal biogenesis disorderspanel. Sources: UKGTN
Added New Source
Eik Haraldsdottir (Genomics England)PEX26 was added to Peroxisomal biogenesis disorderspanel. Sources: Emory Genetics Laboratory
Set Mode of Inheritance
Eik Haraldsdottir (Genomics England)Model of inheritance for gene PEX26 was changed to BIALLELIC, autosomal or pseudoautosomal
Added New Source
Eik Haraldsdottir (Genomics England)PEX26 was added to Peroxisomal biogenesis disorderspanel. Sources: Illumina TruGenome Clinical Sequencing Services
Added New Source
Eik Haraldsdottir (Genomics England)PEX26 was added to Peroxisomal biogenesis disorderspanel. Sources: Radboud University Medical Center, Nijmegen