Neonatal cholestasisGene: PEX6
Comment on mode of inheritance: biallelic and monoallelic variants reported in Peroxisome biogenesis disorder 4B 614863, but this phenotype is not relevant to this panel
Created: 13 Aug 2018, 2:31 p.m.
Comment on phenotypes: Variants also associated with Peroxisome biogenesis disorder 4B 614863 and Heimler syndrome 2 616617
Created: 13 Aug 2018, 2:30 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
This panel has been subjected to extensive internal and external review.
Gene: pex6 has been classified as Green List (High Evidence).
Mode of inheritance for gene: PEX6 was changed from to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PEX6 were set to Peroxisome biogenesis disorder 4A (Zellweger) 614862
Publications for gene: PEX6 were set to 8670792; 8940266; 10408779
Victorian Clinical Genetics Services was added to PEX6. Panel: Cholestasis
PEX6 was added to Cholestasis panel. Sources: Emory Genetics Laboratory
PEX6 was created by Ellen McDonagh