Bilateral congenital or childhood onset cataracts

Gene: PEX5

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Peroxisome biogenesis disorder 2A (Zellweger); Peroxisome biogenesis disorder 2B; Rhizomelic chondrodysplasia punctata, type 5

Publications

• Baroy et al (2015) Hum Mol Genet 24(20:5845-5854
• Ebberink et al (2009) Hum Mutat 30:93-98

Comment on list classification: Promoted to green due to expert review.

Created: 3 Jun 2016, 7:22 a.m.

The PEX5L gene is on the Manchester congenital cataracts panel, but after feedback from Sarah Waller, this is likely meant to be the PEX5 gene which has two isoforms; PEX5L and PEX5S.

Created: 2 Jun 2016, 3:07 p.m.

This is a confirmed DD gene for Zellweger syndrome, infantile refsum disease and adrenoleukodystrophy neonatal.

Created: 2 Jun 2016, 3:03 p.m.