Polymicrogyria and Schizencephaly

Gene: PEX5

Amber List (moderate evidence)

PEX5 (peroxisomal biogenesis factor 5)
EnsemblGeneIds (GRCh38): ENSG00000139197
EnsemblGeneIds (GRCh37): ENSG00000139197
OMIM: 600414, Gene2Phenotype
PEX5 is in 19 panels

1 review

Paul De Fazio (Victorian Clinical Genetics Services)

I don't know

Accounts for ~2% of Zellweger Spectrum Disorder (GeneReviews https://www.ncbi.nlm.nih.gov/books/NBK1448/). Reports of patients with polymicrogyria specifically were not identified, but as Zellweger has the potential to present with polymicrogyria this gene has been rated Amber.
Sources: Literature
Created: 26 Aug 2020, 7:35 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Peroxisome biogenesis disorder 2A (Zellweger) (MIM#214110)

Publications

Variants in this GENE are reported as part of current diagnostic practice

History Filter Activity

26 Aug 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: pex5 has been classified as Amber List (Moderate Evidence).

26 Aug 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: pex5 has been classified as Amber List (Moderate Evidence).

26 Aug 2020, Gel status: 0

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

Paul De Fazio (Victorian Clinical Genetics Services)

gene: PEX5 was added gene: PEX5 was added to Polymicrogyria and Schizencephaly. Sources: Literature Mode of inheritance for gene: PEX5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PEX5 were set to 21031596 Phenotypes for gene: PEX5 were set to Peroxisome biogenesis disorder 2A (Zellweger) (MIM#214110) Review for gene: PEX5 was set to AMBER gene: PEX5 was marked as current diagnostic