This Panel is marked as Internal
Peroxisomal biogenesis disorders
Gene: PEX1
PEX1 (peroxisomal biogenesis factor 1)
EnsemblGeneIds (GRCh38): ENSG00000127980
EnsemblGeneIds (GRCh37): ENSG00000127980
OMIM: 602136, Gene2Phenotype
PEX1 is in 20 panels
EnsemblGeneIds (GRCh38): ENSG00000127980
EnsemblGeneIds (GRCh37): ENSG00000127980
OMIM: 602136, Gene2Phenotype
PEX1 is in 20 panels
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Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert list
- UKGTN
- Emory Genetics Laboratory
- Illumina TruGenome Clinical Sequencing Services
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- Peroxisome biogenesis disorder 1A (Zellweger), 214100
- Zellweger Syndrome
- Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum, PEX1-related
- Refsum Disease, Infantile
- Zellweger Syndrome, ZS
- Adrenoleukodystrophy, Autosomal Neonatal Form
- Peroxisomal biogenesis disorders
- OMIM
- 602136
- Clinvar variants
- Variants in PEX1
- Penetrance
- Complete
- Panels with this gene
-
- Childhood onset dystonia, chorea or related movement disorder
- Cholestasis
- 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
- Retinal disorders
- Likely inborn error of metabolism
- Ductal plate malformation
- Amelogenesis imperfecta
- Arthrogryposis
- Neonatal cholestasis
- Fetal anomalies
- Undiagnosed metabolic disorders
History Filter Activity
7 Aug 2015, Gel status: 4
Added New Source
Eik Haraldsdottir (Genomics England)PEX1 was added to Peroxisomal biogenesis disorderspanel. Sources: Expert list
7 Aug 2015, Gel status: 4
Added New Source
Eik Haraldsdottir (Genomics England)PEX1 was added to Peroxisomal biogenesis disorderspanel. Sources: UKGTN
7 Aug 2015, Gel status: 3
Added New Source
Eik Haraldsdottir (Genomics England)PEX1 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 PEX1 was changed to BIALLELIC, autosomal or pseudoautosomal
7 Aug 2015, Gel status: 2
Added New Source
Eik Haraldsdottir (Genomics England)PEX1 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)PEX1 was added to Peroxisomal biogenesis disorderspanel. Sources: Radboud University Medical Center, Nijmegen