This Panel is marked as Deleted
Cholestasis Victorian Clinical Genetics Services
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
0 reviews
Details
- Sources
-
- Victorian Clinical Genetics Services
- Expert Review Green
- OMIM
- 603360
- Clinvar variants
- Variants in PEX16
- Penetrance
- None
- Panels with this gene
-
- Peroxisomal disorders
- Intellectual disability
- Likely inborn error of metabolism
- Undiagnosed metabolic disorders
- Inherited white matter disorders
- Hereditary ataxia with onset in adulthood
- Fetal hydrops
- Fetal anomalies
- Adult onset leukodystrophy
- Structural eye disease
- Adult onset neurodegenerative disorder
- Childhood onset dystonia, chorea or related movement disorder
- Ductal plate malformation
- DDG2P
- Bilateral congenital or childhood onset cataracts
- Hereditary ataxia
- Neonatal cholestasis
- White matter disorders and cerebral calcification - narrow panel
- Ataxia and cerebellar anomalies - narrow panel
- Arthrogryposis
- Malformations of cortical development
History Filter Activity
12 Jun 2018, Gel status: 4
Added New Source
Sarah Leigh (Genomics England Curator)PEX16 was added to Cholestasis Victorian Clinical Genetics Services panel. Sources: Expert Review Green,Victorian Clinical Genetics Services
12 Jun 2018, Gel status: 4
Created
Sarah Leigh (Genomics England Curator)PEX16 was created by Sarah Leigh