Malformations of cortical development

Gene: PEX14

Green List (high evidence)

PEX14 (peroxisomal biogenesis factor 14)
EnsemblGeneIds (GRCh38): ENSG00000142655
EnsemblGeneIds (GRCh37): ENSG00000142655
OMIM: 601791, Gene2Phenotype
PEX14 is in 17 panels

2 reviews

Louise Daugherty (Genomics England Curator)

Comment on phenotypes: added MIMid
Created: 23 Apr 2018, 11:49 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 PEX14 were set to Disorders of peroxisome biogenesis; Peroxisome biogenesis disorder 13A (Zellweger), 614887

23 Apr 2018, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

PEX14 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)

PEX14 was created by Louise Daugherty