Malformations of cortical development
Gene: PEX2
PEX2 (peroxisomal biogenesis factor 2)
EnsemblGeneIds (GRCh38): ENSG00000164751
EnsemblGeneIds (GRCh37): ENSG00000164751
OMIM: 170993, Gene2Phenotype
PEX2 is in 21 panels
EnsemblGeneIds (GRCh38): ENSG00000164751
EnsemblGeneIds (GRCh37): ENSG00000164751
OMIM: 170993, Gene2Phenotype
PEX2 is in 21 panels
1 review
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 5A (Zellweger), 614866
- Peroxisome biogenesis disorder 5B, 614867
- OMIM
- 170993
- Clinvar variants
- Variants in PEX2
- Penetrance
- None
- Publications
- Panels with this gene
-
- Intellectual disability
- White matter disorders and cerebral calcification - childhood onset
- Hereditary ataxia, adult onset
- Likely inborn error of metabolism
- Cholestasis
- Peroxisomal disorders
- Retinal disorders
- Bilateral congenital or childhood onset cataracts
- Leukodystrophy, adult onset
- Undiagnosed metabolic disorders
- Inherited white matter disorders
- Dystonia, chorea or related movement disorder, childhood onset
- Fetal hydrops
- Arthrogryposis
- Ductal plate malformation
- Fetal anomalies
- Structural eye disease
- Early onset or syndromic epilepsy
- DDG2P
- Neonatal cholestasis
- Malformations of cortical development
History Filter Activity
23 Apr 2018, Gel status: 4
Added New Source
Louise Daugherty (Genomics England Curator)PEX2 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)PEX2 was created by Louise Daugherty