Neonatal cholestasis
Gene: PEX1Comment on phenotypes: Added phenotypes suggested from external expert review.Created: 25 Jul 2018, 2:55 p.m.
Comment on phenotypes: Variants also associated with Heimler syndrome 1 234580 and Peroxisome biogenesis disorder 1B (NALD/IRD) 601539Created: 25 Jul 2018, 9:53 a.m.
Comment on list classification: Associated with relevant phenotype (Peroxisome biogenesis disorder 1A (Zellweger), 214100) in OMIM and as confirmed Gen2Phen gene. At least 5 variants reported in at least 3 unrelated cases. Supportive functional studies also provided.Created: 25 Jul 2018, 9:51 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Zellweger syndrome
This panel has been subjected to extensive internal and external review.
Gene: pex1 has been classified as Green List (High Evidence).
Phenotypes for gene: PEX1 were set to Neonatal and Adult Cholestasis; Peroxisome Biogenesis Disorder 1A (Zellweger), 214100; Zellweger syndrome
Gene: pex1 has been classified as Green List (High Evidence).
Publications for gene: PEX1 were set to 22871920; 9398847; 9398848
Phenotypes for gene: PEX1 were set to Neonatal and Adult Cholestasis; Peroxisome Biogenesis Disorder 1A (Zellweger), 214100
Gene: pex1 has been classified as Green List (High Evidence).
Victorian Clinical Genetics Services was added to PEX1. Panel: Cholestasis
UKGTN was added to PEX1. Panel: Cholestasis Model of inheritance for gene PEX1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene PEX1 were set to Neonatal and Adult Cholestasis, Peroxisome Biogenesis Disorder 1A (Zellweger)
PEX1 was added to Cholestasis panel. Sources: Emory Genetics Laboratory
PEX1 was created by Ellen McDonagh