Neonatal cholestasis
Gene: PEX5Comment when marking as ready: Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene. At least 1 variant reported in a single case. Genomics England Clinical team consider Zellweger syndrome to be an appropriate phenotype for the Neonatal cholestasis panel.Created: 13 Aug 2018, 1:51 p.m.
Comment on list classification: based on PEX5 being listed as a "confirmed" gene for Zellweger in Gen2PhenCreated: 13 Aug 2018, 1:49 p.m.
Comment on phenotypes: Variants also associated with Peroxisome biogenesis disorder 2B 202370; Rhizomelic chondrodysplasia punctata, type 5 616716Created: 13 Aug 2018, 1:37 p.m.
This panel has been subjected to extensive internal and external review.
Gene: pex5 has been classified as Red List (Low Evidence).
Gene: pex5 has been classified as Red List (Low Evidence).
Gene: pex5 has been classified as Amber List (Moderate Evidence).
Gene: pex5 has been classified as Amber List (Moderate Evidence).
Phenotypes for gene: PEX5 were set to Peroxisome biogenesis disorder 2A (Zellweger) 214110
Mode of inheritance for gene: PEX5 was changed from to BIALLELIC, autosomal or pseudoautosomal
Victorian Clinical Genetics Services was added to PEX5. Panel: Cholestasis
PEX5 was added to Cholestasis panel. Sources: Emory Genetics Laboratory
PEX5 was created by Ellen McDonagh