Malformations of cortical development
Gene: PEX16
PEX16 (peroxisomal biogenesis factor 16)
EnsemblGeneIds (GRCh38): ENSG00000121680
EnsemblGeneIds (GRCh37): ENSG00000121680
OMIM: 603360, Gene2Phenotype
PEX16 is in 21 panels
EnsemblGeneIds (GRCh38): ENSG00000121680
EnsemblGeneIds (GRCh37): ENSG00000121680
OMIM: 603360, Gene2Phenotype
PEX16 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 8A, (Zellweger), 614876
- Zellweger Syndrome
- Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum
- Peroxisomal biogenesis disorders
- OMIM
- 603360
- Clinvar variants
- Variants in PEX16
- Penetrance
- None
- Publications
- Panels with this gene
-
- Ataxia and cerebellar anomalies - childhood onset
- Peroxisomal disorders
- Undiagnosed metabolic disorders
- Inherited white matter disorders
- Hereditary ataxia
- Fetal hydrops
- Fetal anomalies
- Malformations of cortical development
- Neurodegenerative disorders, adult onset
- Arthrogryposis
- Likely inborn error of metabolism
- Intellectual disability
- Dystonia, chorea or related movement disorder, childhood onset
- Ductal plate malformation
- Bilateral congenital or childhood onset cataracts
- Structural eye disease
- Neonatal cholestasis
- Hereditary ataxia, adult onset
- DDG2P
- Leukodystrophy, adult onset
- White matter disorders and cerebral calcification - childhood onset
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