Malformations of cortical development
Gene: PEX5
PEX5 (peroxisomal biogenesis factor 5)
EnsemblGeneIds (GRCh38): ENSG00000139197
EnsemblGeneIds (GRCh37): ENSG00000139197
OMIM: 600414, Gene2Phenotype
PEX5 is in 19 panels
EnsemblGeneIds (GRCh38): ENSG00000139197
EnsemblGeneIds (GRCh37): ENSG00000139197
OMIM: 600414, Gene2Phenotype
PEX5 is in 19 panels
2 reviews
Louise Daugherty (Genomics England Curator)
Comment on phenotypes: added MIMidCreated: 23 Apr 2018, 11:58 a.m.
Helen Brittain (Genomics England Curator)
personal communication with Clinical Genetics team in North Thames GMC noting the association between Zellweger syndrome and cortical malformations inc band heterotopiaCreated: 23 Apr 2018, 11:42 a.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Literature
- Expert Review Green
- Phenotypes
-
- Disorders of peroxisome biogenesis
- Peroxisome biogenesis disorder 2A (Zellweger), 214110
- Peroxisome biogenesis disorder 2B, 202370
- OMIM
- 600414
- Clinvar variants
- Variants in PEX5
- Penetrance
- None
- Publications
- Panels with this gene
-
- Peroxisomal disorders
- Likely inborn error of metabolism
- Undiagnosed metabolic disorders
- Intellectual disability
- Inherited white matter disorders
- Fetal hydrops
- Fetal anomalies
- Adult onset leukodystrophy
- Structural eye disease
- Skeletal dysplasia
- Childhood onset dystonia, chorea or related movement disorder
- Ductal plate malformation
- DDG2P
- Bilateral congenital or childhood onset cataracts
- Neonatal cholestasis
- White matter disorders and cerebral calcification - narrow panel
- Arthrogryposis
- Malformations of cortical development
- Early onset or syndromic epilepsy
History Filter Activity
23 Apr 2018, Gel status: 4
Set Phenotypes
Louise Daugherty (Genomics England Curator)Phenotypes for PEX5 were set to Disorders of peroxisome biogenesis; Peroxisome biogenesis disorder 2A (Zellweger), 214110; Peroxisome biogenesis disorder 2B, 202370
23 Apr 2018, Gel status: 4
Added New Source
Louise Daugherty (Genomics England Curator)PEX5 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)PEX5 was created by Louise Daugherty