Malformations of cortical development
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
2 reviews
Louise Daugherty (Genomics England Curator)
Comment on phenotypes: added MIMidCreated: 23 Apr 2018, 11:47 a.m.
Helen Brittain (Genomics England Curator)
personal communication with Clinical Genetics team in North Thames GMC noting the association between Zellweger syndrome and cortical malformations inc band heterotopiaCreated: 23 Apr 2018, 11:42 a.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- Peroxisome biogenesis disorder 14B, 614920
- OMIM
- 603867
- Clinvar variants
- Variants in PEX11B
- Penetrance
- None
- Panels with this gene
-
- Bilateral congenital or childhood onset cataracts
- Peroxisomal disorders
- Adult onset leukodystrophy
- Intellectual disability
- DDG2P
- Cytopenias and congenital anaemias
- Undiagnosed metabolic disorders
- Childhood onset dystonia, chorea or related movement disorder
- Fetal hydrops
- Malformations of cortical development
- Structural eye disease
- Ductal plate malformation
- Neonatal cholestasis
- Likely inborn error of metabolism
- Fetal anomalies
- Arthrogryposis
History Filter Activity
23 Apr 2018, Gel status: 4
Set Phenotypes
Louise Daugherty (Genomics England Curator)Phenotypes for PEX11B were set to Peroxisome biogenesis disorder 14B, 614920
23 Apr 2018, Gel status: 4
Added New Source
Louise Daugherty (Genomics England Curator)PEX11B was added to Malformations of cortical development panel. Sources: Expert Review Green
23 Apr 2018, Gel status: 4
Created
Louise Daugherty (Genomics England Curator)PEX11B was created by Louise Daugherty