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Prepair 1000+

Gene: PEX12

Green List (high evidence)

PEX12 (peroxisomal biogenesis factor 12)
EnsemblGeneIds (GRCh38): ENSG00000108733
EnsemblGeneIds (GRCh37): ENSG00000108733
OMIM: 601758, Gene2Phenotype
PEX12 is in 18 panels

1 review

Lisa Norbart (Victorian Clinical Genetics Services)

Green List (high evidence)

The peroxisomal biogenesis disorder (PBD) 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.

The overlapping phenotypes of neonatal adrenoleukodystrophy (NALD) and infantile Refsum disease (IRD) represent the milder manifestations of the Zellweger syndrome spectrum (ZSS) of peroxisome biogenesis disorders. The clinical course of patients with the NALD and IRD presentation is variable and may include developmental delay, hypotonia, liver dysfunction, sensorineural hearing loss, retinal dystrophy, and visual impairment. Children with the NALD presentation may reach their teens, and those with the IRD presentation may reach adulthood.
Created: 31 Jan 2025, 3:41 a.m. | Last Modified: 31 Jan 2025, 3:41 a.m.
Panel Version: 1.1397

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Peroxisome biogenesis disorder 3A (Zellweger), MIM#614859; Peroxisome biogenesis disorder 3B, MIM#266510

History Filter Activity

2 Nov 2023, Gel status: 3

Set Phenotypes

Seb Lunke (Victorian Clinical Genetics Services)

Added phenotypes Peroxisome biogenesis disorder 3A (Zellweger), 614859 for gene: PEX12

1 Jun 2022, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: PEX12 was added gene: PEX12 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: PEX12 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PEX12 were set to Peroxisome biogenesis disorder 3A (Zellweger), 614859