Neonatal cholestasisGene: PEX7
Comment from: Dr Saikat Santra, Consultant in Clinical IMD, Birmingham Women’s and Children’s NHS Foundation Trust "PEX7 (rhizomelic chondrodysplasia punctata) which although a biogenesis disorder appears to be very limited to plasmalogen production and hence cholestasis (and even abnormal very long chain fatty acids) may not be seen."
Created: 28 Aug 2018, 1:40 p.m.
Comment when marking as ready: Not associated with phenotype in OMIM or in Gen2Phen
Created: 13 Aug 2018, 3:11 p.m.
This panel has been subjected to extensive internal and external review.
Gene: pex7 has been classified as Red List (Low Evidence).
Phenotypes for gene: PEX7 were set to Peroxisome biogenesis disorder 9B 614879; Rhizomelic chondrodysplasia punctata, type 1 215100
Victorian Clinical Genetics Services was added to PEX7. Panel: Cholestasis
PEX7 was added to Cholestasis panel. Sources: Emory Genetics Laboratory
PEX7 was created by Ellen McDonagh