Peroxisomal disorders

Gene: PEX5

Red List (low evidence)

Comment when marking as ready: Gene rated green and diagnostic-grade by expert reviewer. Associated with phenotype in OMIM and G2P. At least five variants reported across the three phenotypes. Not on the Minimum recommended gene list for broad spectrum genetic testing for single-nucleotide variants associated with leukodystrophies and genetic leukoencephalopathies reported in PMID: 25655951.

Created: 24 Aug 2016, 12:06 p.m.

Comment on phenotypes: Also associated with Rhizomelic chondrodysplasia punctata, type 5 616716

Created: 24 Aug 2016, 11:58 a.m.

Associated with phenotype in OMIM and G2P. At least five variants reported across the three phenotypes

Created: 23 Aug 2016, 2:27 p.m.

Comment on publications: PEX5 is not mentioned in PMID 25655951

Created: 23 Aug 2016, 2:25 p.m.

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
PEROXISOME BIOGENESIS DISORDER 2B

Publications

• 25655951

Variants in this GENE are reported as part of current diagnostic practice