Peroxisomal disorders
Gene: PEX3EnsemblGeneIds (GRCh38): ENSG00000034693
EnsemblGeneIds (GRCh37): ENSG00000034693
OMIM: 603164, Gene2Phenotype
PEX3 is in 18 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 four 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, 10:55 a.m.
Ian Berry (Leeds Genetics Laboratory)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
PEROXISOME BIOGENESIS DISORDER 10A (ZELLWEGER)
Publications
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
- Radboud University Medical Center, Nijmegen
- Illumina TruGenome Clinical Sequencing Services
- Emory Genetics Laboratory
- Expert list
- Phenotypes
-
- Peroxisome biogenesis disorder 10A (Zellweger) 614882
- OMIM
- 603164
- Clinvar variants
- Variants in PEX3
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- White matter disorders and cerebral calcification - narrow panel
- Peroxisomal disorders
- Early onset or syndromic epilepsy
- DDG2P
- Intellectual disability
- Adult onset leukodystrophy
- Inherited white matter disorders
- Fetal hydrops
- Malformations of cortical development
- Bilateral congenital or childhood onset cataracts
- Likely inborn error of metabolism
- Ductal plate malformation
- Structural eye disease
- Arthrogryposis
- Neonatal cholestasis
- Fetal anomalies
- Undiagnosed metabolic disorders
- Childhood onset dystonia, chorea or related movement disorder
History Filter Activity
panel promoted to version 1
Sarah Leigh (Genomics England Curator)Promoted to V1 3rd October 2016
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Upload gene information
Sarah Leigh (Genomics England Curator)PEX3 was added to Peroxisomal disorderspanel. Sources: UKGTN
Set publications
Sarah Leigh (Genomics England Curator)Publications for PEX3 were set to 23245813; 25655951; 10968777
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for PEX3 were set to Peroxisome biogenesis disorder 10A (Zellweger) 614882
Created
Sarah Leigh (Genomics England Curator)PEX3 was created by sleigh
Added New Source
Sarah Leigh (Genomics England Curator)PEX3 was added to Peroxisomal disorderspanel. Sources: Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services,Emory Genetics Laboratory,Expert list