Neonatal cholestasisGene: PEX13
Comment on list classification: Promoted to green, after discussion with the Genomics England clinical team that Zellweger genes (with enough evidence to be causative of Zellweger) should be included for this panel.
Created: 8 Aug 2018, 4:57 p.m.
Associated with phenotypes in OMIM and as confirmed Gen2Phen gene. At least 3 variants reported in Peroxisome biogenesis disorder 11A (Zellweger) 614883 and 2 in Peroxisome biogenesis disorder 11B 614885 in a total of at least 6 unrelated cases. However, phenotypes do not appear to be relevant to the cholestasis panel.
Created: 25 Jul 2018, 3:31 p.m.
Comment on phenotypes: Neither phenotype appears to be relevant for the cholestasis panel
Created: 25 Jul 2018, 3:28 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Zellwegers syndrome; cholestasis
This panel has been subjected to extensive internal and external review.
Gene: pex13 has been classified as Green List (High Evidence).
Gene: pex13 has been classified as Red List (Low Evidence).
Phenotypes for gene: PEX13 were set to Peroxisome biogenesis disorder 11A (Zellweger) 614883; Peroxisome biogenesis disorder 11B 614885
Publications for gene: PEX13 were set to 10332040; 19449432
Mode of inheritance for gene: PEX13 was changed from to BIALLELIC, autosomal or pseudoautosomal
Victorian Clinical Genetics Services was added to PEX13. Panel: Cholestasis
PEX13 was added to Cholestasis panel. Sources: Emory Genetics Laboratory
PEX13 was created by Ellen McDonagh