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Gene: PEX26

Green List (high evidence)

PEX26 genes cause Zellweger spectrum disorder (ZSD) including Zellweger syndrome (ZS), Neonatal Adrenoleukodystrophy (NALD), and Infantile Refsum Disease (IRD). These historically distinct phenotypes are now considered different presentations within the same clinical and biochemical spectrum with ZS being the most severe presentation, NALD intermediate and IRD milder

Zellweger type -Affected newborns are hypotonic and feed poorly. They have distinctive facies, congenital malformations (neuronal migration defects associated with neonatal-onset seizures, renal cysts, and bony stippling [chondrodysplasia punctata] of the patella[e] and the long bones), and liver disease that can be severe. Infants with severe ZSD are significantly impaired and typically die during the first year of life, usually having made no developmental progress.

HGNC approved symbol/name: PEX26
Is the phenotype(s) severe and onset <18yo? Y

Created: 20 Jan 2025, 5:20 a.m. | Last Modified: 20 Jan 2025, 5:20 a.m.

Panel Version: 1.1235

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Peroxisome biogenesis disorder 7A (Zellweger) - MIM#614872, MONDO:0013938; Peroxisome biogenesis disorder 7B - MIM#614873, MONDO:0013939

Publications

• 12717447
• 15858711
• 17336976