This Panel is marked as Internal
Peroxisomal biogenesis disorders
Gene: PEX14
PEX14 (peroxisomal biogenesis factor 14)
EnsemblGeneIds (GRCh38): ENSG00000142655
EnsemblGeneIds (GRCh37): ENSG00000142655
OMIM: 601791, Gene2Phenotype
PEX14 is in 18 panels
EnsemblGeneIds (GRCh38): ENSG00000142655
EnsemblGeneIds (GRCh37): ENSG00000142655
OMIM: 601791, Gene2Phenotype
PEX14 is in 18 panels
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Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert list
- Emory Genetics Laboratory
- Illumina TruGenome Clinical Sequencing Services
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- Peroxisome biogenesis disorder 14B, 614920
- Peroxisome biogenesis disorder 13A (Zellweger), 614887
- Zellweger Syndrome
- Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum, PEX14-related
- Peroxisomal biogenesis disorders
- OMIM
- 601791
- Clinvar variants
- Variants in PEX14
- Penetrance
- Complete
- Panels with this gene
-
- Cholestasis
- Peroxisomal disorders
- Childhood onset dystonia, chorea or related movement disorder
- Undiagnosed metabolic disorders
- Structural eye disease
- Inherited white matter disorders
- Fetal hydrops
- Arthrogryposis
- Adult onset leukodystrophy
- Malformations of cortical development
- Likely inborn error of metabolism
- Intellectual disability
- Ductal plate malformation
- Bilateral congenital or childhood onset cataracts
- Fetal anomalies
- DDG2P
- Neonatal cholestasis
- White matter disorders and cerebral calcification - narrow panel
History Filter Activity
7 Aug 2015, Gel status: 3
Added New Source
Eik Haraldsdottir (Genomics England)PEX14 was added to Peroxisomal biogenesis disorderspanel. Sources: Expert list
7 Aug 2015, Gel status: 3
Added New Source
Eik Haraldsdottir (Genomics England)PEX14 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 PEX14 was changed to BIALLELIC, autosomal or pseudoautosomal
7 Aug 2015, Gel status: 2
Added New Source
Eik Haraldsdottir (Genomics England)PEX14 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)PEX14 was added to Peroxisomal biogenesis disorderspanel. Sources: Radboud University Medical Center, Nijmegen