Malformations of cortical development
Gene: PEX26
PEX26 (peroxisomal biogenesis factor 26)
EnsemblGeneIds (GRCh38): ENSG00000215193
EnsemblGeneIds (GRCh37): ENSG00000215193
OMIM: 608666, Gene2Phenotype
PEX26 is in 19 panels
EnsemblGeneIds (GRCh38): ENSG00000215193
EnsemblGeneIds (GRCh37): ENSG00000215193
OMIM: 608666, Gene2Phenotype
PEX26 is in 19 panels
1 review
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
-
- Literature
- Expert Review Green
- Phenotypes
-
- Disorders of peroxisome biogenesis
- Peroxisome biogenesis disorder 7A (Zellweger), 61487
- Peroxisome biogenesis disorder 7B, 614873
- OMIM
- 608666
- Clinvar variants
- Variants in PEX26
- Penetrance
- None
- Publications
- Panels with this gene
-
- Structural eye disease
- Arthrogryposis
- Neonatal cholestasis
- Fetal anomalies
- Undiagnosed metabolic disorders
- White matter disorders and cerebral calcification - narrow panel
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
- Cholestasis
- Amelogenesis imperfecta
- Peroxisomal disorders
- DDG2P
- Adult onset leukodystrophy
- Inherited white matter disorders
- Fetal hydrops
- Malformations of cortical development
- Bilateral congenital or childhood onset cataracts
- Likely inborn error of metabolism
- Ductal plate malformation
History Filter Activity
23 Apr 2018, Gel status: 4
Set Phenotypes
Louise Daugherty (Genomics England Curator)Phenotypes for PEX26 were set to Disorders of peroxisome biogenesis; Peroxisome biogenesis disorder 7A (Zellweger), 61487; Peroxisome biogenesis disorder 7B, 614873
23 Apr 2018, Gel status: 4
Added New Source
Louise Daugherty (Genomics England Curator)PEX26 was added to Malformations of cortical development panel. Sources: Expert Review Green,Literature
23 Apr 2018, Gel status: 4
Created
Louise Daugherty (Genomics England Curator)PEX26 was created by Louise Daugherty