Malformations of cortical development

Gene: PEX11B

Green List (high evidence)

PEX11B (peroxisomal biogenesis factor 11 beta)
EnsemblGeneIds (GRCh38): ENSG00000131779
EnsemblGeneIds (GRCh37): ENSG00000131779
OMIM: 603867, Gene2Phenotype
PEX11B is in 16 panels

2 reviews

Louise Daugherty (Genomics England Curator)

Comment on phenotypes: added MIMid
Created: 23 Apr 2018, 11:47 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 PEX11B were set to Peroxisome biogenesis disorder 14B, 614920

23 Apr 2018, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

PEX11B was added to Malformations of cortical development panel. Sources: Expert Review Green

23 Apr 2018, Gel status: 4

Created

Louise Daugherty (Genomics England Curator)

PEX11B was created by Louise Daugherty