Ductal plate malformation
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
0 reviews
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Radboud University Medical Center, Nijmegen, Expert list
- Phenotypes
-
- Peroxisome biogenesis disorder 7A (Zellweger) (614872)
- Peroxisome biogenesis disorder 7B (614873)
- OMIM
- 608666
- Clinvar variants
- Variants in PEX26
- Penetrance
- None
- Panels with this gene
-
- Cholestasis
- Peroxisomal disorders
- Childhood onset dystonia, chorea or related movement disorder
- Undiagnosed metabolic disorders
- Structural eye disease
- Inherited white matter disorders
- Fetal hydrops
- Arthrogryposis
- Adult onset leukodystrophy
- Malformations of cortical development
- Likely inborn error of metabolism
- Intellectual disability
- Ductal plate malformation
- Bilateral congenital or childhood onset cataracts
- Amelogenesis imperfecta
- Fetal anomalies
- DDG2P
- Neonatal cholestasis
- White matter disorders and cerebral calcification - narrow panel
History Filter Activity
30 Nov 2018, Gel status: 1
Panel promoted to version 1.0
Ellen McDonagh (Genomics England Curator)Ivone Leong: Porous bile ducts reported in
12 Nov 2018, Gel status: 1
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ivone Leong (Genomics England Curator)gene: PEX26 was added gene: PEX26 was added to Ductal plate malformation (DPM). Sources: Radboud University Medical Center, Nijmegen, Expert list Mode of inheritance for gene: PEX26 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PEX26 were set to Peroxisome biogenesis disorder 7A (Zellweger) (614872); Peroxisome biogenesis disorder 7B (614873)