Neonatal cholestasis
Gene: PEX2Comment on list classification: Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene. At least 3 variants reported in at least 4 unrelated cases, together with supportive functional studies.Created: 25 Jul 2018, 10:06 a.m.
Comment on phenotypes: Variants also associated to Peroxisome biogenesis disorder 5B 614867Created: 25 Jul 2018, 10:01 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Zellweger syndrome
This panel has been subjected to extensive internal and external review.
Phenotypes for gene: PEX2 were set to Neonatal and Adult Cholestasis; Peroxisome Biogenesis Disorder 5A (Zellweger), 614866
Gene: pex2 has been classified as Green List (High Evidence).
Publications for gene: PEX2 were set to 1546315; 14630978; 2454948
Gene: pex2 has been classified as Green List (High Evidence).
Phenotypes for gene: PEX2 were set to Neonatal and Adult Cholestasis; Peroxisome Biogenesis Disorder 5A (Zellweger) 614866
Victorian Clinical Genetics Services was added to PEX2. Panel: Cholestasis
UKGTN was added to PEX2. Panel: Cholestasis Model of inheritance for gene PEX2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene PEX2 were set to Neonatal and Adult Cholestasis, Peroxisome Biogenesis Disorder 5A (Zellweger)
PEX2 was added to Cholestasis panel. Sources: Emory Genetics Laboratory
PEX2 was created by Ellen McDonagh