This Panel is marked as Internal
Peroxisomal biogenesis disorders
Gene: PEX6
PEX6 (peroxisomal biogenesis factor 6)
EnsemblGeneIds (GRCh38): ENSG00000124587
EnsemblGeneIds (GRCh37): ENSG00000124587
OMIM: 601498, Gene2Phenotype
PEX6 is in 23 panels
EnsemblGeneIds (GRCh38): ENSG00000124587
EnsemblGeneIds (GRCh37): ENSG00000124587
OMIM: 601498, Gene2Phenotype
PEX6 is in 23 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 4A (Zellweger), 614862
- Zellweger Syndrome
- Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum, PEX6-related
- Refsum Disease, Infantile
- Zellweger Syndrome, ZS
- Adrenoleukodystrophy, Autosomal Neonatal Form
- Peroxisomal biogenesis disorders
- OMIM
- 601498
- Clinvar variants
- Variants in PEX6
- 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
- Childhood onset dystonia, chorea or related movement disorder
- Ductal plate malformation
- Amelogenesis imperfecta
- DDG2P
- Bilateral congenital or childhood onset cataracts
- Retinal disorders
- Neonatal cholestasis
- White matter disorders and cerebral calcification - narrow panel
- Ataxia and cerebellar anomalies - narrow panel
- Arthrogryposis
- Malformations of cortical development
- Cholestasis
- Early onset or syndromic epilepsy
History Filter Activity
7 Aug 2015, Gel status: 4
Added New Source
Eik Haraldsdottir (Genomics England)PEX6 was added to Peroxisomal biogenesis disorderspanel. Sources: Expert list
7 Aug 2015, Gel status: 4
Added New Source
Eik Haraldsdottir (Genomics England)PEX6 was added to Peroxisomal biogenesis disorderspanel. Sources: UKGTN
7 Aug 2015, Gel status: 3
Added New Source
Eik Haraldsdottir (Genomics England)PEX6 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 PEX6 was changed to BIALLELIC, autosomal or pseudoautosomal
7 Aug 2015, Gel status: 2
Added New Source
Eik Haraldsdottir (Genomics England)PEX6 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)PEX6 was added to Peroxisomal biogenesis disorderspanel. Sources: Radboud University Medical Center, Nijmegen