This Panel is marked as Internal
Peroxisomal biogenesis disorders
Gene: PEX11B
PEX11B (peroxisomal biogenesis factor 11 beta)
EnsemblGeneIds (GRCh38): ENSG00000131779
EnsemblGeneIds (GRCh37): ENSG00000131779
OMIM: 603867, Gene2Phenotype
PEX11B is in 16 panels
EnsemblGeneIds (GRCh38): ENSG00000131779
EnsemblGeneIds (GRCh37): ENSG00000131779
OMIM: 603867, Gene2Phenotype
PEX11B is in 16 panels
0 reviews
Details
- Sources
-
- Expert list
- Emory Genetics Laboratory
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- Peroxisome biogenesis disorder 14B, 614920
- Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum
- Peroxisomal biogenesis disorders
- OMIM
- 603867
- Clinvar variants
- Variants in PEX11B
- Penetrance
- Complete
- Panels with this gene
-
- Cytopenias and congenital anaemias
- Peroxisomal disorders
- DDG2P
- Intellectual disability
- Adult onset leukodystrophy
- Fetal hydrops
- Malformations of cortical development
- Bilateral congenital or childhood onset cataracts
- Likely inborn error of metabolism
- Ductal plate malformation
- Structural eye disease
- Arthrogryposis
- Neonatal cholestasis
- Fetal anomalies
- Undiagnosed metabolic disorders
- Childhood onset dystonia, chorea or related movement disorder
History Filter Activity
7 Aug 2015, Gel status: 2
Added New Source
Eik Haraldsdottir (Genomics England)PEX11B was added to Peroxisomal biogenesis disorderspanel. Sources: Expert list
7 Aug 2015, Gel status: 2
Added New Source
Eik Haraldsdottir (Genomics England)PEX11B was added to Peroxisomal biogenesis disorderspanel. Sources: Emory Genetics Laboratory
7 Aug 2015, Gel status: 1
Added New Source
Eik Haraldsdottir (Genomics England)PEX11B was added to Peroxisomal biogenesis disorderspanel. Sources: Radboud University Medical Center, Nijmegen