Peroxisomal disorders
Gene: PEX1EnsemblGeneIds (GRCh38): ENSG00000127980
EnsemblGeneIds (GRCh37): ENSG00000127980
OMIM: 602136, Gene2Phenotype
PEX1 is in 20 panels
3 reviews
Sarah Leigh (Genomics England Curator)
Comment on phenotypes: Variants also reported in Heimler syndrome 1 234580 ARCreated: 23 Aug 2016, 12:05 p.m.
Ian Berry (Leeds Genetics Laboratory)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
PEROXISOME BIOGENESIS DISORDER 1B
Publications
Variants in this GENE are reported as part of current diagnostic practice
Ellen McDonagh (Genomics England Curator)
Confirmed DD gene for Peroxisome biogenesis disorder complementation group I, more than 3 unrelated cases and different variants reported in OMIM. 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 for Peroxisome biogenesis disorder 1A,B. Rated green on the inherited white matter disorders panel.Created: 19 Aug 2016, 12:02 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Peroxisome-Associated Disorders & Zellweger Syndrome; General Leukodystrophy & Mitochondrial Leukoencephalopathy; Peroxisome biogenesis disorder 1A,B; Peroxisome biogenesis disorder 1A (Zellweger)
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Illumina TruGenome Clinical Sequencing Services
- Emory Genetics Laboratory
- UKGTN
- Expert list
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- Peroxisome biogenesis disorder 1A (Zellweger) 214100
- Peroxisome biogenesis disorder 1B (NALD/IRD) 601539
- OMIM
- 602136
- Clinvar variants
- Variants in PEX1
- Penetrance
- Complete
- Panels with this gene
-
- Bilateral congenital or childhood onset cataracts
- Cholestasis
- Undiagnosed metabolic disorders
- Peroxisomal disorders
- Intellectual disability
- Early onset or syndromic epilepsy
- Childhood onset dystonia, chorea or related movement disorder
- DDG2P
- Retinal disorders
- 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
- Amelogenesis imperfecta
- Neonatal cholestasis
- Fetal anomalies
History Filter Activity
panel promoted to version 1
Sarah Leigh (Genomics England Curator)Promoted to V1 3rd October 2016
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for PEX1 were set to Peroxisome biogenesis disorder 1A (Zellweger) 214100; Peroxisome biogenesis disorder 1B (NALD/IRD) 601539
Created
Sarah Leigh (Genomics England Curator)PEX1 was created by sleigh
Added New Source
Sarah Leigh (Genomics England Curator)PEX1 was added to Peroxisomal disorderspanel. Sources: Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services,Emory Genetics Laboratory,UKGTN,Expert list