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Gene: PEX6

Green List (high evidence)

PEX6 (peroxisomal biogenesis factor 6)
EnsemblGeneIds (GRCh38): ENSG00000124587
EnsemblGeneIds (GRCh37): ENSG00000124587
OMIM: 601498, Gene2Phenotype
PEX6 is in 20 panels

1 review

Lauren Thomas (VIctorian Clinical Genetics Services)

Green List (high evidence)

Affected children present in the newborn period with profound hypotonia, seizures, and inability to feed. Children with this condition do not show any significant development and usually die in the first year of life.

Peroxisome biogenesis disorder-4B includes the overlapping phenotypes of neonatal adrenoleukodystrophy (NALD) and infantile Refsum disease (IRD), which represent milder manifestations of the Zellweger syndrome spectrum.

HGNC approved symbol/name: PEX6
Is the phenotype(s) severe and onset <18yo? Yes
Known technical challenges? No
Gene reported in 3 independent families: Yes

NOTE: Heimler syndrome 2, MIM# 616617, caused by compound het or homozygous variants in this gene. Causes sensorineural hearing loss, enamel hypoplasia of the secondary dentition, and nail abnormalities.
Created: 3 Mar 2025, 5 a.m. | Last Modified: 3 Mar 2025, 5 a.m.
Panel Version: 1.1566

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Peroxisome biogenesis disorder 4A (Zellweger), MIM# 614862; Peroxisome biogenesis disorder-4B, MIM# 614863

Publications

History Filter Activity

2 Nov 2023, Gel status: 3

Set Phenotypes

Seb Lunke (Victorian Clinical Genetics Services)

Added phenotypes Peroxisome biogenesis disorder 4A (Zellweger), 614862 for gene: PEX6

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: PEX6 was added gene: PEX6 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: PEX6 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PEX6 were set to Peroxisome biogenesis disorder 4A (Zellweger), 614862