Malformations of cortical development

Gene: PEX13

Green List (high evidence)

PEX13 (peroxisomal biogenesis factor 13)
EnsemblGeneIds (GRCh38): ENSG00000162928
EnsemblGeneIds (GRCh37): ENSG00000162928
OMIM: 601789, Gene2Phenotype
PEX13 is in 18 panels

2 reviews

Louise Daugherty (Genomics England Curator)

Comment on phenotypes: added MIMid
Created: 23 Apr 2018, 11:48 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 PEX13 were set to Disorders of peroxisome biogenesis; Peroxisome biogenesis disorder 11A (Zellweger),614883

23 Apr 2018, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

PEX13 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)

PEX13 was created by Louise Daugherty