Ductal plate malformation
Gene: PEX14
PEX14 (peroxisomal biogenesis factor 14)
EnsemblGeneIds (GRCh38): ENSG00000142655
EnsemblGeneIds (GRCh37): ENSG00000142655
OMIM: 601791, Gene2Phenotype
PEX14 is in 18 panels
EnsemblGeneIds (GRCh38): ENSG00000142655
EnsemblGeneIds (GRCh37): ENSG00000142655
OMIM: 601791, Gene2Phenotype
PEX14 is in 18 panels
1 review
Ivone Leong (Genomics England Curator)
Porous bile ducts reported in one patient.Created: 12 Nov 2018, 1:55 p.m.
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- Radboud University Medical Center, Nijmegen, Expert list
- Phenotypes
-
- Peroxisome biogenesis disorder 13A (Zellweger) (614887)
- OMIM
- 601791
- Clinvar variants
- Variants in PEX14
- 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
- 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
Added New Source
Ivone Leong (Genomics England Curator)Source Expert Review Red was added to PEX14.
12 Nov 2018, Gel status: 1
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ivone Leong (Genomics England Curator)gene: PEX14 was added gene: PEX14 was added to Ductal plate malformation (DPM). Sources: Radboud University Medical Center, Nijmegen, Expert list Mode of inheritance for gene: PEX14 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PEX14 were set to Peroxisome biogenesis disorder 13A (Zellweger) (614887)