Neonatal cholestasisGene: PEX11B
Associated with phenotypees in OMIM and as confirmed Gen2Phen gene. At least 2 variants reported in at least 2 cases, however, the phenotype associated with PEX11b does not appear to include hepatic features.
Created: 25 Jul 2018, 2:41 p.m.
Comment on phenotypes: This phenotype does not appear to include any hepatic involvement
Created: 25 Jul 2018, 2:38 p.m.
This panel has been subjected to extensive internal and external review.
Gene: pex11b has been classified as Red List (Low Evidence).
Mode of inheritance for gene: PEX11B was changed from to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PEX11B were set to ?Peroxisome biogenesis disorder 14B 614920
Publications for gene: PEX11B were set to 28129423; 22581968
Victorian Clinical Genetics Services was added to PEX11B. Panel: Cholestasis
PEX11B was added to Cholestasis panel. Sources: Emory Genetics Laboratory
PEX11B was created by Ellen McDonagh