Ductal plate malformation
Gene: PEX1
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
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
Ivone Leong: Confirmed to be a causative ge
Gene: pex1 has been classified as Red List (Low Evidence).
Gene: pex1 has been classified as Red List (Low Evidence).
Publications for gene: PEX1 were set to
Source Expert Review Amber was added to PEX1. Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
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)