Malformations of cortical development

Gene: PEX16

Green List (high evidence)

PEX16 (peroxisomal biogenesis factor 16)
EnsemblGeneIds (GRCh38): ENSG00000121680
EnsemblGeneIds (GRCh37): ENSG00000121680
OMIM: 603360, Gene2Phenotype
PEX16 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

Added New Source

Louise Daugherty (Genomics England Curator)

PEX16 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)

PEX16 was created by Louise Daugherty