Genetic Epilepsy
Gene: PEX1

PEX1 (peroxisomal biogenesis factor 1)
EnsemblGeneIds (GRCh38): ENSG00000127980
EnsemblGeneIds (GRCh37): ENSG00000127980
OMIM: 602136, Gene2Phenotype
PEX1 is in 21 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Seizures are part of the phenotype.
Created: 16 Apr 2024, 9:47 a.m. | Last Modified: 16 Apr 2024, 9:47 a.m.

Panel Version: 0.2590

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Peroxisome biogenesis disorder 1A (Zellweger) 214100

Created: 16 Apr 2024, 9:47 a.m.
Last Modified: 16 Apr 2024, 9:47 a.m.
Panel version: 0.2590

Elena Savva (Victorian Clinical Genetics Services)

Green List (high evidence)

*Genotype-phenotype correlation: severity is usually associated with the effect on peroxisome assembly, hence PTV variants that completely abolish activity are usually more severe than missense. PBD is caused by biallelic PTV, whereas milder HS is caused by a PTV in trans with a hypomorphic missense (GeneReviews; PMID: 26387595)

Few missense reported
Created: 27 Nov 2020, 1:25 a.m. | Last Modified: 27 Nov 2020, 1:25 a.m.

Panel Version: 0.5474

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Heimler syndrome 1 234580; Peroxisome biogenesis disorder 1A (Zellweger) 214100; . Peroxisome biogenesis disorder 1B (NALD/IRD) 601539

Publications

PMID: 26387595

Created: 27 Nov 2020, 1:25 a.m.
Last Modified: 27 Nov 2020, 1:25 a.m.
Panel version: Imported from Mendeliome panel version 0.5474

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Victorian Clinical Genetics Services
Australian Genomics Health Alliance Epilepsy Flagship

Phenotypes

Peroxisome biogenesis disorder 1A (Zellweger) 214100

OMIM

602136

Clinvar variants

Variants in PEX1

Penetrance

None

Publications

26387595

Panels with this gene