Ductal plate malformation
Gene: PEX1EnsemblGeneIds (GRCh38): ENSG00000127980
EnsemblGeneIds (GRCh37): ENSG00000127980
OMIM: 602136, Gene2Phenotype
PEX1 is in 20 panels
2 reviews
Anna de Burca (Oxford University Hospitals NHS Foundation Trust)
Although Zellweger syndrome is a cause of hepatic dysfunction, it is not associated with ductal plate malformations.Created: 26 Nov 2018, 10:05 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Ivone Leong (Genomics England Curator)
Comment on list classification: Demoted from amber to red. Based on the comment by Anna de Burca (Genomics England Curator).Created: 27 Nov 2018, 9:34 a.m.
Confirmed to be a causative gene for Peroxisome biogenesis disorder complementation group 1 on Gene2Phenotype. There are several patients with Zellweger syndrome who have a liver phenotype (don't know if this liver phenotype is relevant to DPM). Promoted from red to amber.Created: 12 Nov 2018, 1:55 p.m.
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- Expert list
- Phenotypes
-
- Peroxisome biogenesis disorder 1B (NALD/IRD) (601539)
- Peroxisome biogenesis disorder 1A (Zellweger) (214100)
- OMIM
- 602136
- Clinvar variants
- Variants in PEX1
- Penetrance
- None
- Publications
- Panels with this gene
-
- Childhood onset dystonia, chorea or related movement disorder
- Cholestasis
- White matter disorders and cerebral calcification - narrow panel
- Peroxisomal disorders
- Early onset or syndromic epilepsy
- DDG2P
- Intellectual disability
- Adult onset leukodystrophy
- Inherited white matter disorders
- Fetal hydrops
- Malformations of cortical development
- Bilateral congenital or childhood onset cataracts
- Retinal disorders
- Likely inborn error of metabolism
- Ductal plate malformation
- Amelogenesis imperfecta
- Arthrogryposis
- Neonatal cholestasis
- Fetal anomalies
- Undiagnosed metabolic disorders
History Filter Activity
Panel promoted to version 1.0
Ellen McDonagh (Genomics England Curator)Ivone Leong: Confirmed to be a causative ge
Entity classified by Genomics England curator
Ivone Leong (Genomics England Curator)Gene: pex1 has been classified as Red List (Low Evidence).
Entity classified by Genomics England curator
Ivone Leong (Genomics England Curator)Gene: pex1 has been classified as Red List (Low Evidence).
Set publications
Ivone Leong (Genomics England Curator)Publications for gene: PEX1 were set to
Added New Source, Status Update
Ivone Leong (Genomics England Curator)Source Expert Review Amber was added to PEX1. Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ivone Leong (Genomics England Curator)gene: PEX1 was added gene: PEX1 was added to Ductal plate malformation (DPM). Sources: Expert list Mode of inheritance for gene: PEX1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PEX1 were set to Peroxisome biogenesis disorder 1B (NALD/IRD) (601539); Peroxisome biogenesis disorder 1A (Zellweger) (214100)