Malformations of cortical development

Gene: PEX5

Green List (high evidence)

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

2 reviews

Louise Daugherty (Genomics England Curator)

Comment on phenotypes: added MIMid
Created: 23 Apr 2018, 11:58 a.m.

Helen Brittain (Genomics England Curator)

Green List (high evidence)

personal communication with Clinical Genetics team in North Thames GMC noting the association between Zellweger syndrome and cortical malformations inc band heterotopia
Created: 23 Apr 2018, 11:42 a.m.

History Filter Activity

23 Apr 2018, Gel status: 4

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for PEX5 were set to Disorders of peroxisome biogenesis; Peroxisome biogenesis disorder 2A (Zellweger), 214110; Peroxisome biogenesis disorder 2B, 202370

23 Apr 2018, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

PEX5 was added to Malformations of cortical development panel. Sources: Expert Review Green,Literature

23 Apr 2018, Gel status: 4

Created

Louise Daugherty (Genomics England Curator)

PEX5 was created by Louise Daugherty