This Panel is marked as Internal
Peroxisomal biogenesis disorders
Gene: PEX16
PEX16 (peroxisomal biogenesis factor 16)
EnsemblGeneIds (GRCh38): ENSG00000121680
EnsemblGeneIds (GRCh37): ENSG00000121680
OMIM: 603360, Gene2Phenotype
PEX16 is in 21 panels
EnsemblGeneIds (GRCh38): ENSG00000121680
EnsemblGeneIds (GRCh37): ENSG00000121680
OMIM: 603360, Gene2Phenotype
PEX16 is in 21 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 8A, (Zellweger), 614876
- Zellweger Syndrome
- Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum
- Peroxisomal biogenesis disorders
- OMIM
- 603360
- Clinvar variants
- Variants in PEX16
- Penetrance
- Complete
- Panels with this gene
-
- Peroxisomal disorders
- Intellectual disability
- Likely inborn error of metabolism
- Undiagnosed metabolic disorders
- Inherited white matter disorders
- Hereditary ataxia with onset in adulthood
- Fetal hydrops
- Fetal anomalies
- Adult onset leukodystrophy
- Structural eye disease
- Adult onset neurodegenerative disorder
- Childhood onset dystonia, chorea or related movement disorder
- Ductal plate malformation
- DDG2P
- Bilateral congenital or childhood onset cataracts
- Hereditary ataxia
- Neonatal cholestasis
- White matter disorders and cerebral calcification - narrow panel
- Ataxia and cerebellar anomalies - narrow panel
- Arthrogryposis
- Malformations of cortical development
History Filter Activity
7 Aug 2015, Gel status: 3
Added New Source
Eik Haraldsdottir (Genomics England)PEX16 was added to Peroxisomal biogenesis disorderspanel. Sources: Expert list
7 Aug 2015, Gel status: 3
Added New Source
Eik Haraldsdottir (Genomics England)PEX16 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 PEX16 was changed to BIALLELIC, autosomal or pseudoautosomal
7 Aug 2015, Gel status: 2
Added New Source
Eik Haraldsdottir (Genomics England)PEX16 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)PEX16 was added to Peroxisomal biogenesis disorderspanel. Sources: Radboud University Medical Center, Nijmegen