Inherited white matter disorders
Gene: PEX5EnsemblGeneIds (GRCh38): ENSG00000139197
EnsemblGeneIds (GRCh37): ENSG00000139197
OMIM: 600414, Gene2Phenotype
PEX5 is in 19 panels
2 reviews
Sarah Leigh (Genomics England Curator)
Comment when marking as ready: Gene rated green and diagnostic-grade by expert reviewer. Associated with phenotype in OMIM and G2P. At least five variants reported across the three phenotypes. 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: 24 Aug 2016, 12:06 p.m.
Comment on phenotypes: Also associated with Rhizomelic chondrodysplasia punctata, type 5 616716Created: 24 Aug 2016, 11:58 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_649
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 biogenesis disorder 2A (Zellweger) 214110
- Peroxisome biogenesis disorder 2B 202370
- OMIM
- 600414
- Clinvar variants
- Variants in PEX5
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Bilateral congenital or childhood onset cataracts
- Undiagnosed metabolic disorders
- Peroxisomal disorders
- Intellectual disability
- Early onset or syndromic epilepsy
- Childhood onset dystonia, chorea or related movement disorder
- DDG2P
- Skeletal dysplasia
- Structural eye disease
- Inherited white matter disorders
- Fetal hydrops
- Adult onset leukodystrophy
- Malformations of cortical development
- Likely inborn error of metabolism
- White matter disorders and cerebral calcification - narrow panel
- Ductal plate malformation
- Arthrogryposis
- Neonatal cholestasis
- Fetal anomalies
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).
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been removed from the panel.
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for PEX5 were set to Peroxisome biogenesis disorder 2A (Zellweger) 214110; Peroxisome biogenesis disorder 2B 202370
Set publications
Sarah Leigh (Genomics England Curator)Publications for PEX5 were set to 26220973; 27290639
Created
Ian Berry (Leeds Genetics Laboratory)PEX5 was created by [email protected]
Added New Source
Ian Berry (Leeds Genetics Laboratory)PEX5 was added to Inherited white matter disorderspanel. Sources: Expert list