This Panel is marked as Internal
Peroxisomal biogenesis disorders
Gene: PEX5
PEX5 (peroxisomal biogenesis factor 5)
EnsemblGeneIds (GRCh38): ENSG00000139197
EnsemblGeneIds (GRCh37): ENSG00000139197
OMIM: 600414, Gene2Phenotype
PEX5 is in 19 panels
EnsemblGeneIds (GRCh38): ENSG00000139197
EnsemblGeneIds (GRCh37): ENSG00000139197
OMIM: 600414, Gene2Phenotype
PEX5 is in 19 panels
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Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Emory Genetics Laboratory
- Illumina TruGenome Clinical Sequencing Services
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- Peroxisome biogenesis disorder 2A (Zellweger), 214110
- Zellweger Syndrome
- Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum, PEX5-related
- OMIM
- 600414
- Clinvar variants
- Variants in PEX5
- Penetrance
- Complete
- Panels with this gene
-
- White matter disorders and cerebral calcification - childhood onset
- Peroxisomal disorders
- Early onset or syndromic epilepsy
- Dystonia, chorea or related movement disorder, childhood onset
- Likely inborn error of metabolism
- Bilateral congenital or childhood onset cataracts
- Intellectual disability
- Undiagnosed metabolic disorders
- Leukodystrophy, adult onset
- Inherited white matter disorders
- Fetal hydrops
- Arthrogryposis
- Ductal plate malformation
- Fetal anomalies
- Structural eye disease
- Skeletal dysplasia
- DDG2P
- Neonatal cholestasis
- Malformations of cortical development
History Filter Activity
7 Aug 2015, Gel status: 3
Added New Source
Eik Haraldsdottir (Genomics England)PEX5 was added to Peroxisomal biogenesis disorderspanel. Sources: Emory Genetics Laboratory
7 Aug 2015, Gel status: 2
Set Mode of Inheritance
Eik Haraldsdottir (Genomics England)Model of inheritance for gene PEX5 was changed to BIALLELIC, autosomal or pseudoautosomal
7 Aug 2015, Gel status: 2
Added New Source
Eik Haraldsdottir (Genomics England)PEX5 was added to Peroxisomal biogenesis disorderspanel. Sources: Illumina TruGenome Clinical Sequencing Services
7 Aug 2015, Gel status: 1
Added New Source
Eik Haraldsdottir (Genomics England)PEX5 was added to Peroxisomal biogenesis disorderspanel. Sources: Radboud University Medical Center, Nijmegen