Neonatal cholestasis
Gene: PEX14Comment on list classification: Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene. At least 3 variants reported (two nonsense variants and one 41kb deletion that removes exon 3 resulting in a frameshift, and premature protein truncation).Created: 25 Jul 2018, 4 p.m.
Comment on phenotypes: Peroxisome biogenesis disorder 13A (Zellweger) 614887 phenotype includes Hepatomegaly and CholestasisCreated: 25 Jul 2018, 3:47 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Zellwegers syndrome; cholestasis
This panel has been subjected to extensive internal and external review.
Gene: pex14 has been classified as Green List (High Evidence).
Gene: pex14 has been classified as Green List (High Evidence).
Publications for gene: PEX14 were set to 15146459; 18285423; 26627464
Phenotypes for gene: PEX14 were set to Peroxisome biogenesis disorder 13A (Zellweger) 614887
Mode of inheritance for gene: PEX14 was changed from to BIALLELIC, autosomal or pseudoautosomal
Victorian Clinical Genetics Services was added to PEX14. Panel: Cholestasis
PEX14 was added to Cholestasis panel. Sources: Emory Genetics Laboratory
PEX14 was created by Ellen McDonagh