Malformations of cortical development

Gene: PEX6

Green List (high evidence)

PEX6 (peroxisomal biogenesis factor 6)
EnsemblGeneIds (GRCh38): ENSG00000124587
EnsemblGeneIds (GRCh37): ENSG00000124587
OMIM: 601498, Gene2Phenotype
PEX6 is in 21 panels

1 review

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 PEX6 were set to Disorders of peroxisome biogenesis; Peroxisome biogenesis disorder 4A (Zellweger), 614862; Peroxisome biogenesis disorder 4B, 614863

23 Apr 2018, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

PEX6 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)

PEX6 was created by Louise Daugherty