Inherited white matter disorders
Gene: PEX13EnsemblGeneIds (GRCh38): ENSG00000162928
EnsemblGeneIds (GRCh37): ENSG00000162928
OMIM: 601789, Gene2Phenotype
PEX13 is in 18 panels
2 reviews
Ellen McDonagh (Genomics England Curator)
Comment on list classification: Gene rated green and diagnostic-grade by expert reviewer, confirmed DD gene for PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP 13, more than 3 unrelated cases with different variants reported in OMIM. It is not 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: 19 Aug 2016, 1:18 p.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_651
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- Peroxisome-Associated Disorders & Zellweger Syndrome
- Peroxisome biogenesis disorder 11A (Zellweger)
- Peroxisome biogenesis disorder 11B
- OMIM
- 601789
- Clinvar variants
- Variants in PEX13
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Peroxisomal disorders
- Childhood onset dystonia, chorea or related movement disorder
- Undiagnosed metabolic disorders
- Structural eye disease
- Inherited white matter disorders
- Fetal hydrops
- Arthrogryposis
- Adult onset leukodystrophy
- Malformations of cortical development
- Early onset or syndromic epilepsy
- Likely inborn error of metabolism
- Intellectual disability
- Ductal plate malformation
- Bilateral congenital or childhood onset cataracts
- Fetal anomalies
- DDG2P
- Neonatal cholestasis
- White matter disorders and cerebral calcification - narrow panel
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
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for PEX13 were set to Peroxisome-Associated Disorders & Zellweger Syndrome; Peroxisome biogenesis disorder 11A (Zellweger); Peroxisome biogenesis disorder 11B
Set publications
Ellen McDonagh (Genomics England Curator)Publications for PEX13 were set to 25655951
Set publications
Ellen McDonagh (Genomics England Curator)Publications for PEX13 were set to 25655951;Peroxisome biogenesis disorder 11A (Zellweger);Peroxisome biogenesis disorder 11B
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been removed from the panel.
Added New Source
Ian Berry (Leeds Genetics Laboratory)PEX13 was added to Inherited white matter disorderspanel. Sources: Expert list
Created
Ian Berry (Leeds Genetics Laboratory)PEX13 was created by [email protected]