Malformations of cortical developmentGene: PEX5
Comment on phenotypes: added MIMid
Created: 23 Apr 2018, 11:58 a.m.
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.
Phenotypes for PEX5 were set to Disorders of peroxisome biogenesis; Peroxisome biogenesis disorder 2A (Zellweger), 214110; Peroxisome biogenesis disorder 2B, 202370
PEX5 was added to Malformations of cortical development panel. Sources: Expert Review Green,Literature
PEX5 was created by Louise Daugherty