Neonatal cholestasis
Gene: PEX16Comment when marking as ready: Associated with the relevant phenotype in OMIM and as confirmed Gen2Phen gene. At least 3 variants reported in unrelated cases. Genomics England Clinical team consider Zellweger syndrome to be an appropriate phenotype for the Neonatal cholestasis panel.Created: 13 Aug 2018, 11:54 a.m.
Comment on phenotypes: Variants also reported in Peroxisome biogenesis disorder 8B 614877Created: 13 Aug 2018, 10:32 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Zellweger syndrome
This panel has been subjected to extensive internal and external review.
Gene: pex16 has been classified as Green List (High Evidence).
Publications for gene: PEX16 were set to 20681997; 9837814; 11890679
Gene: pex16 has been classified as Green List (High Evidence).
Mode of inheritance for gene: PEX16 was changed from to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PEX16 were set to Peroxisome biogenesis disorder 8A (Zellweger) 614876
Victorian Clinical Genetics Services was added to PEX16. Panel: Cholestasis
PEX16 was added to Cholestasis panel. Sources: Emory Genetics Laboratory
PEX16 was created by Ellen McDonagh