Ductal plate malformation
Gene: PEX3
PEX3 (peroxisomal biogenesis factor 3)
EnsemblGeneIds (GRCh38): ENSG00000034693
EnsemblGeneIds (GRCh37): ENSG00000034693
OMIM: 603164, Gene2Phenotype
PEX3 is in 18 panels
EnsemblGeneIds (GRCh38): ENSG00000034693
EnsemblGeneIds (GRCh37): ENSG00000034693
OMIM: 603164, Gene2Phenotype
PEX3 is in 18 panels
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Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Radboud University Medical Center, Nijmegen, Expert list
- Phenotypes
-
- ?Peroxisome biogenesis disorder 10B (617370)
- Peroxisome biogenesis disorder 10A (Zellweger) (614882)
- OMIM
- 603164
- Clinvar variants
- Variants in PEX3
- Penetrance
- None
- Panels with this gene
-
- 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
- Early onset or syndromic epilepsy
- Likely inborn error of metabolism
- Intellectual disability
- Ductal plate malformation
- Bilateral congenital or childhood onset cataracts
- 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: PEX3 was added gene: PEX3 was added to Ductal plate malformation (DPM). Sources: Radboud University Medical Center, Nijmegen, Expert list Mode of inheritance for gene: PEX3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PEX3 were set to ?Peroxisome biogenesis disorder 10B (617370); Peroxisome biogenesis disorder 10A (Zellweger) (614882)