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Gene: PEX3

Green List (high evidence)

This gene causes a spectrum of disease with Peroxisome biogenesis disorder 10B MIM#617370 being more mild and Peroxisome biogenesis disorder 10A (Zellweger) MIM#614882 more severe. Both conditions sound severe enough to include on this panel with PBD 10B causing severe spastic paraparesis, developmental delay, and nephrocalcinosis among other features in a 9yo boy (OMIM).

However Peroxisome biogenesis disorder 10B MIM#617370 seems to have limited reports and the 2 OMIMs should probably be lumped into 1 condition as they represent a spectrum of disease. MONDO has peroxisome biogenesis disorder due to PEX3 defect MONDO:0100261

from OMIM: Zellweger syndrome (ZS) is an autosomal recessive multiple congenital anomaly syndrome resulting from disordered peroxisome biogenesis. Affected children present in the newborn period with profound hypotonia, seizures, and inability to feed. Characteristic craniofacial anomalies, eye abnormalities, neuronal migration defects, hepatomegaly, and chondrodysplasia punctata are present. Children with this condition do not show any significant development and usually die in the first year of life (summary by Steinberg et al., 2006).

Created: 18 Oct 2024, 5:16 a.m. | Last Modified: 18 Oct 2024, 5:16 a.m.

Panel Version: 1.420

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Peroxisome biogenesis disorder 10A (Zellweger) MIM#614882; Peroxisome biogenesis disorder 10B MIM#617370; Peroxisome biogenesis disorder due to PEX3 defect MONDO:0100261