Neonatal cholestasisGene: PEX12
Comment on list classification: Associated with phenotypes in OMIM and as confirmed Gen2Phen gene. At least 7 variants reported in at least 4 cases.
Created: 25 Jul 2018, 3:17 p.m.
Comment on phenotypes: Peroxisome biogenesis disorder 3A (Zellweger) 614859 includes clinical features of hepatomegaly and intrahepatic biliary dysgenesis. Genomics Clinical team consider Zellweger syndrome to be an appropriate phenotype for the Neonatal cholestasis panel.
Created: 25 Jul 2018, 2:58 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Zellwegers syndrome; cholestasis
This panel has been subjected to extensive internal and external review.
Gene: pex12 has been classified as Green List (High Evidence).
Gene: pex12 has been classified as Amber List (Moderate Evidence).
Publications for gene: PEX12 were set to 9090384; 9354782
Phenotypes for gene: PEX12 were set to Peroxisome biogenesis disorder 3A (Zellweger) 614859; Peroxisome biogenesis disorder 3B 266510
Mode of inheritance for gene: PEX12 was changed from to BIALLELIC, autosomal or pseudoautosomal
Victorian Clinical Genetics Services was added to PEX12. Panel: Cholestasis
PEX12 was added to Cholestasis panel. Sources: Emory Genetics Laboratory
PEX12 was created by Ellen McDonagh